Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Syndrome: A characteristic symptom complex.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Upper Extremity Deformities, Congenital: Congenital structural abnormalities of the UPPER EXTREMITY.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Abnormalities, MultipleAntley-Bixler Syndrome Phenotype: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosome Deletion: Actual loss of portion of a chromosome.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Metabolic Syndrome X: A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)Nephrotic Syndrome: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.Sjogren's Syndrome: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.Turner Syndrome: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Myelodysplastic Syndromes: Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.Cushing Syndrome: A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.Polycystic Ovary Syndrome: A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.Williams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.DiGeorge Syndrome: Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.Prader-Willi Syndrome: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)Long QT Syndrome: A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Horner Syndrome: A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)Guillain-Barre Syndrome: An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)Hemolytic-Uremic Syndrome: A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.Tourette Syndrome: A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)Compartment Syndromes: Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Antiphospholipid Syndrome: The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).Klinefelter Syndrome: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Werner Syndrome: An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.Porcine Reproductive and Respiratory Syndrome: A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Bartter Syndrome: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.Carpal Tunnel Syndrome: Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)Reye Syndrome: A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.Porcine respiratory and reproductive syndrome virus: A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.Bloom Syndrome: An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.Angelman Syndrome: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.Brugada Syndrome: An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.HELLP Syndrome: A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.Mice, Inbred C57BLCells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Respiratory Distress Syndrome, Adult: A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Wiskott-Aldrich Syndrome: A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.Job Syndrome: Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Severe Acute Respiratory Syndrome: A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Homozygote: An individual in which both alleles at a given locus are identical.Restless Legs Syndrome: A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Acquired Immunodeficiency Syndrome: An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.Paraneoplastic Syndromes: In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Sweet Syndrome: Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Kallmann Syndrome: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Churg-Strauss Syndrome: Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.Sturge-Weber Syndrome: A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.Infant, Newborn: An infant during the first month after birth.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Chediak-Higashi Syndrome: A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.Budd-Chiari Syndrome: A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Bardet-Biedl Syndrome: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Usher Syndromes: Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Sezary Syndrome: A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Wolff-Parkinson-White Syndrome: A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.Sick Sinus Syndrome: A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Alagille Syndrome: A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Felty Syndrome: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Stevens-Johnson Syndrome: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Cockayne Syndrome: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.Immunophenotyping: Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Oculocerebrorenal Syndrome: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)Wiskott-Aldrich Syndrome Protein: WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Peutz-Jeghers Syndrome: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.Smith-Lemli-Opitz Syndrome: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Consanguinity: The magnitude of INBREEDING in humans.ACTH Syndrome, Ectopic: Symptom complex due to ACTH production by non-pituitary neoplasms.Stiff-Person Syndrome: A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Hemorrhagic Fever with Renal Syndrome: An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.Genetic Variation: Genotypic differences observed among individuals in a population.Orofaciodigital Syndromes: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Behcet Syndrome: Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Short Bowel Syndrome: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Duane Retraction Syndrome: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.Zollinger-Ellison Syndrome: A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.Serotonin Syndrome: An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Hepatopulmonary Syndrome: A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.Costello Syndrome: Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Syndactyly: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Proteus Syndrome: Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Complex Regional Pain Syndromes: Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Li-Fraumeni Syndrome: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.Goldenhar Syndrome: Mandibulofacial dysostosis with congenital eyelid dermoids.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.Respiratory Distress Syndrome, Newborn: A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.Neuroleptic Malignant Syndrome: A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)Klippel-Feil Syndrome: A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.Subclavian Steal Syndrome: A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)Hantavirus Pulmonary Syndrome: Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.Obesity: A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Bacterial Proteins: Proteins found in any species of bacterium.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Waardenburg Syndrome: Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.Hamartoma Syndrome, Multiple: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Mobius Syndrome: A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)Thoracic Outlet Syndrome: A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Asperger Syndrome: A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.White spot syndrome virus 1: A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Systemic Inflammatory Response Syndrome: A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.Sleep Apnea Syndromes: Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.Wolfram Syndrome: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

Cholesterol metabolism: the main pathway acting downstream of cytochrome P450 oxidoreductase in skeletal development of the limb. (1/9)

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Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (2/9)

Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There was transient maternal virilisation during pregnancy as well. She was initially diagnosed with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and/or aromatase deficiency. At 1 year of age, skeletal abnormalities suggestive of Antley-Bixler syndrome were detected. Molecular analysis of the fibroblast growth factor receptor 2 (FGFR2) gene was normal but POR gene analysis showed that she was homozygous for an R457H missense mutation. The diagnosis, P450 oxidoreductase deficiency, was confirmed. Results of her endocrine studies and urinary steroid profiling are also presented.  (+info)

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. (3/9)

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Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. (4/9)

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A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (5/9)

Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome.  (+info)

Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. (6/9)

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Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development. (7/9)

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46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (8/9)

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Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. {ECO:0000269,PubMed:14758361, ECO:0000269,PubMed:15220035}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
The Guardian ran a sensational story on Friday claiming a backdoor was discovered in WhatsApp, enabling intelligence agencies to snoop on encrypted messages. Gizmodo followed up saying its no backdoor at all, but reasonable, intended behavior. So whats really going on here? The lost phone,...
XSS Shell is a powerful XSS backdoor which allows interactively getting control over a Cross-site Scripting (XSS) vulnerability in a web application. Demonstrates the real power and damage of Cross-site Scripting attacks. WHAT IS XSS SHELL ? XSS Shell is powerful a XSS backdoor and zombie manager. This concept first
mytrip wrote to mention a C|Net article stating that Vista will not have a security backdoor after all. From the article: The suggestion is that we are working with governments to create a back door so that they can always access BitLocker-encrypted data, Niels Ferguson, a developer and cryptogra...
This new WordPress infection spreads across a server contaminating all sites with xm1rpc.php files and other backdoors to spread SEO spam.
Major Blud writes CNN is running an opinion piece on their front page from security technologist Bruce Schneier, in which he suggests that In order to comply with government search warrants on user data, Google created a backdoor access system into Gmail accounts. This feature is what the Chinese ...
yikes...these were all from todays alerts... [email protected] is a mass-mailing worm that modifies the Autoexec.bat file in an attempt to format drive C. It deletes all .ocx, .sys, and .dll files from the C:\_RESTORE folder, and deletes other files that have a randomly chosen extension. http://www.symantec.com/avcenter/venc/data/[email protected] Backdoor.DSNX is a backdoor Trojan horse that can give a hacker access to your computer. Like many other backdoor Trojans, Backdoor.DSNX is
A backdoor virus is a program that enters a computer system without being detected and runs in the background to open ports, allowing third parties to control the computer clandestinely. These...
Backdoor.Bot Removal - posted in Virus, Trojan, Spyware, and Malware Removal Logs: Hi Everyone! During the past week or so Ive been struggeling with a spyware/trojan/Other sh!!!t attack on my PC. Ive tried different programs and solutions posted on the web and removed almost everything. But Im still stuck with a few processes that are removed on scans but come back when I boot and make my life a living hell! Anyways these are some of the logs im getting when running s...
Backdoor.Kerlisen Removal - Symantec Security Response provides comprehensive internet protection expertise to guard against complex threats, information about latest new computer viruses and spyware
The Backdoor Broadcasting Company provides a really excellent service. We rely on them to record many of our events, and weve been delighted with the results. The sound quality is superb, mainly because a skilled technician is always on hand during the recordings. The layout of the website helps a great deal and I find the presentation of slides accompanying speakers talk extremely useful. The sheer range of material covered is very impressive. This is a company going from strength to strength.. ...
My PC (vista ultimate x32) is infected with the Backdoor.Tidserv.I!inf virus and tries to connect with the internet ervery minute or so. Norton (360...
We recently heard the Flash would be getting his own full-fledged pilot -- instead of a backdoor pilot piggybacking on Arrow -- and producer Andrew Kreisberg is here to explain why thats a good thing.. Well get to meet Grant Gustins version of Barry Allen (aka the future Flash) this week on Arrow, and producers had planned to introduce the concepts for a Flash spinoff with a backdoor pilot in episode 20 of Arrow next year. But the network has now decided to give Flash his own proper pilot episode (with a bigger budget), and Kreisberg says that should make things run a lot smoother.. He told TV Line that episode 20 will now be "an episode of Arrow," which worked out well because the backdoor pilot concept had messed with the pacing, as "[they] were going to have to take a right turn [from] where we were in our ongoing story to incorporate that." So a separate pilot should give Flashs universe room to breathe, without cramming it into the Arrow narrative.. But that doesnt mean weve seen the ...
As you probably know, and I am here to tell you, when government gets its grimy corrupt paws on any sector of our economy it is DESTINED TO FAIL! In one manner or another Obummer and Dodd/Frank have control of many, if not all of the largest banking concerns in America. The smaller community banks are being targeted for litigation on issues of "robo-forclosure" policies and will be driven into ultimate failure by the Obama regime. ...
If this is your first visit, be sure to check out the FAQ by clicking the link above. You must have to REGISTER before you can post: Click the register link above to proceed. To start viewing messages, select the forum that you want to visit from the selection below.. ...
This is a Trojan detection. Unlike viruses, Trojans do not self-replicate. They are spread manually, often under the premise that they are beneficial or wanted. The most common installation methods involve system or security exploitation, and unsuspecting users manually executing unknown programs. Distribution channels include e-mail, malicious or hacked Web pages, Internet Relay Chat (IRC), peer-to-peer networks, etc.. ...
This is the recipe you have been looking for. Miracle Healing Salve is a cinch to make and replace a drawer full of OTC remedies, ointments, and creams.
Wir loesen das Problem ✐ Hallo Forum, hallo Helfer, ich habe mal wieder ein Problem... Mein System: Windows XP AntiVir Sygate Personal Firewall
sl4shd0rk writes A new Mac OS X exploit was discovered Friday morning by Kaspersky Labs which propogates through a zipfile attachment. The attachment tricks the Mac user into installing a variant of the MaControl backdoor via point-and-grunt. Embedded in the virus is an encrypted IP address belong...
If hundreds of thousands of people are still blindly clicking on attachments in their email, is there any hope of mitigating the threat of hundreds of thousands of compromised systems with open backdoors?
hi folks i am using Win XP Pro....and Office XP.... my prob is when ever ui open any app that have a text box or some other box to type in automatically if.. is typed without any reasons....sometimes i am unable to move the scroll bar ..i move i down it sgoes back to the position i started from :( ....well i reject backdoor/trojan on my PC as it also happents when i am not connected to the n/w..... tried scanning with updated definations from norton....but i doest show any virus...
Of course, its more than possible that the problems which are starting to multiply round Madonnas purchase of a Malawian not-quite-orphan will provide her with a handy backdoor to abandon the plan, getting the photo-op without having to deal with the downside of ripping a kid away from his extended family and plunging him into a gilded life of perpetually being prodded as Madonnas funtime African project kid ...
Seems a good chunk of the initial cut is coming straight outta the defense budget, with a backdoor trigger that will enable even larger chunks if Republicans play...
I cant get to my FRIENDS list or ONLINE list or for that matter click on anyones avatar and get to them. I cant even login. I got here through the backdoor on.....
If your Electrum wallet is 2-Factor (TrustedCoins), MPK will generate invalid (?) addresses and your customers will send the money to an unknown destinaton. I think this problem is related with 2-Factor Wallets, since TrustedWallets charges 0.0005 BTC / transaction. Little orders will never arrive you, because this fee.. I tried with a normal - standard Electrum wallet, and everything was working.. Maybe a ISSUE with TrustCoin wallets? Maybe a developer backdoor to send funds to his own wallets?. Dont know, still waiting a reply from Developer.. ...
Alternative (backdoor) androgen production and masculinization in the human fetus{{#pmid:30763313,PMID30763313}} Masculinization of the external genitalia in humans is dependent on formation of 5α-dihydrotestosterone (DHT) through both the canonical androgenic pathway and an alternative (backdoor) pathway. The fetal testes are essential for canonical androgen production, but little is known about the synthesis of backdoor androgens, despite their known critical role in masculinization. ...Results show that androsterone is the principal backdoor androgen in the male fetal circulation and that DHT is undetectable (,1 ng/mL), while in female fetuses, there are significantly lower levels of androsterone and testosterone. In the male, intermediates in the backdoor pathway are found primarily in the placenta and fetal liver, with significant androsterone levels also in the fetal adrenal. Backdoor intermediates, including androsterone, are only present at very low levels in the fetal testes. This ...
Semantic Scholar extracted view of Rapid screening for D-glucose-6-phosphate: NADP oxidoreductase deficiency with methylene blue. by Martin D. Sass et al.
We are in a realm where the attacker does not publish everything they can do (especially in cryptography where the activity of intelligence entities is still prevalent). So the experts and academics can only work with the known attacks as a working reference. Just imagine what the NSA (300 of the most brilliant mathematicians working for nearly four decades) can have produced: a mathematical corpus of knowledge.". Filiol does not accept the industry-standard and widely reviewed AES algorithm is necessarily secure, even though he doesnt have evidence to the contrary at hand.. "If I cannot prove that the AES has a backdoor; no one can prove that there is none," Filiol told El Reg. "And honestly, who would be mad enough to think that the USA would offer a strongly secure, military grade encryption algorithm without any form of control?". He added: "I do not. The AES contest has been organised by the NIST with the technical support of the NSA (it is of public knowledge). Do you really think that in ...
backdoor trojan / malware removal help - posted in Virus, Trojan, Spyware, and Malware Removal Logs: avg keeps popping up with trojan horse generic 31 saying it has to be manually removed but cant find it in the registary editor or anywhere i have done a log here it is any help much apreciated DDS (Ver_2012-11-20.01) - NTFS_AMD64 NETWORK Internet Explorer: 9.0.8112.16464 Run by Ryan at 19:47:35 on 2013-03-14 Microsoft Windows 7 Home Premium 6.1.7600.0.1252.44.1033....
The MSA claim was male dog genitalia so, not having a Storeonce unit to look at, I went to have a look at the manuals on the hp public website. Took me five minutes of browsing to find out that the hpsupport account is discussed in the Storeonce B6000 user manuals (HP StoreOnce B6000 Series Backup System Maintenance &Service Guide, August 2012). It also has an hp internal link (page 13) to the website hp field engineers have to go to for the time-limited password generation tool for use after the password has been reset from the factory default at installation, which suggests to me that Technion has a unit where the install engineer did not reset the factory default password upon installation. Just like the MSA admin account non-story he goes on about. No wonder hp have been ignoring him.. The first moral of the story is only let accredited people that know what they are doing install your stuff. The second moral is dont rush to declare a built-in back door without doing at least five minutes ...
What is Best Latisse alternatives to grow your eyelashes without high-cost and prescription? From Careprost to LashFood - we did the research to save your time.
This week in the Survival Buzz: adding chocolate kisses to food storage, test your BIC lighters, and, sadly, a major fail while creating survival straws.
I recently downloaded a trial version of AusLogics Visual Styler 3.1.15.145 from Download.com. Things seemed to be going on well for a few days until the recent ZA update. It now recognize a file named themehelper.dll as a Backdoor.win32.Hupigon.crsm. Is this for real, theres really a backdoor virus that comes with the installation file or is my ZA Anti-Virus reporting a "false negative"? I downloaded Visual Styler from:
Please use the following instructions for all supported versions of Windows to remove threats and other potential risks:. 1.Disable System Restore .. 2.Update to current engine and DAT files for detection and removal.. 3.Run a complete system scan.. Modifications made to the system Registry and/or INI files for the purposes of hooking system startup, will be successfully removed if cleaning with the recommended engine and DAT combination (or higher).. 1. Please go to the Microsoft Recovery Console and restore a clean MBR.. On windows XP:. Insert the Windows XP CD into the CD-ROM drive and restart the computer ...
The peacetime draft - signed into law in 1940 by President Franklin Roosevelt - lasted 33 years until it was abolished in 1973 by the government after almost a decade of unrest and protest during the Vietnam War era. But, the government has one of those fine-print clauses in the enlistment contract for military service…
A vulnerability in Ubisofts Uplay connection and rewards software could allow a hacker to remotely control a system, according to security company F-Secure
Confusingly, the Glieders and Fantibag Trojans are both known as Bagle downloader variants by other anti-virus vendors. Altogether its been an exceptionally busy week for new computer viruses. As well as the attack described by CA numerous new versions of the MyTob worm have also been produced. These variants typically pose as warnings from sys admins about the misuse of a potential victims email account with Subject lines such as "*DETECTED* Online User Violation, Your Email Account is Suspended For Security Reasons and Account Alert.". When an infected attachment is launched, MyTob-CM (the most common of this weeks variants) attempts to turn off security applications. It also attempts to open a backdoor on infected Windows PC, allowing hackers to exploit compromised systems. Anti-virus firm Sophos reckons the creators of MyTob appear to be a group of virus writers called Hellbot. Carole Theriault, security consultant at Sophos, said similarities in code point to possible links between the ...
Mutation testing introduces subtle bugs to source code of our projects and checks that our tests catch those synthetic problems. High computational cost of this technique have prevented it from being widely used in our standard programming toolchain. Can we try to sneak it in through the backdoor of our continuous delivery pipelines? Lets try to answer this question together.
We suggest you to remove LARISSA_ANTI_VIRUS.exe from your computer as soon as possible. LARISSA_ANTI_VIRUS.exe is Trojan/Backdoor. Kill the process LARISSA_ANTI_VIRUS.exe and remove LARISSA_ANTI_VIRUS.exe from Windows startup.
Incidental note. For the last 2 days I have been unable to link to Dr. Fishers website. I enter drwes.blogspot.com and am diverted to www.widgetserver.com .I was able to backdoor into his site from his Twitter feed.Has his web site been hacked? Coincidence? Addendum , two days later Dr. Fishers web site was up ...
Nothing warms my heart more than hearing a Hardass Asian Grownup drop an f-bomb or call someone "you fucking bitch"-or reach my fathers apex of frustration: "Oh, shit" (it only happens when he makes an anomolous mistake, like losing his keys).. And so my only hope is that more Koreans will immerse themselves into this line of study. And that such tutorials will soon be created for ma peeps the Vietnamese, Jens peeps the Chinese, and all of yalls peeps as well!. I also see this tutorial as a bit of a backdoor guide to reading DISGRASIAN, properly prepping little old ladies using umbrellas as parasols and friends from our parents singing groups to join us in a dialogue about fucking burritos and declaring the worlds biggest asshole-and, if were lucky, helping us cut a few fuckers dicks off. Thats the fucking shit!. Its a generasian bridge, so to speak. And a damn fine one at that.. [via Angry Asian Man ...
**WordPress security** is serious business. Exploits of vulnerabilities in WordPress architecture have led to mass compromises of servers through cross-site contamination. WordPress extensibility increases its vulnerability; plugins and themes house flawed logic, loopholes, Easter eggs, backdoors and a slew of other issues. Firing up your computer to find that youre supporting a random cause or selling Viagra can be devastating.
All you need to neutralize Internet threats Dr.Web Security Space 5.0 Dr.Web anti- virus for Windows 5.0 Viruses ++ Spyware, Trojans, key loggers, password stealers, backdoors ++ Rootkits ++ Riskware ++ Mail worms ++ Hack tools ++ Spam, phishing and farming messages, scams and bounces + Cyber-crimes targeting children +
Malware types and threats: adware, virus, spyware, trojan, rootkits, backdoors, logic bombs, polymorphic malware, armoured virus etc.
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Every time I write about Windows security software, I get a predictable flood of responses from Linux advocates who claim that they dont need any such protection. Today comes a shining example of why theyre wrong.
Who remembers the 70s cop show Police Story?. Police Story might be the longest TV franchise that no one remembers. Running for 95 episodes, 8 TV movies and 3 full spin offs Police Story is remarkably obscure.. The show was an anthology series but not in the normal sense. Each episode was a single story (sometimes a 60 minute episode, sometimes a 90 minute one) showcasing an aspect of police life in LA. One week it could be a beat cop, the next set in Vice, the next following an undercover unit etc… but with the connecting thread of regular background characters. Every episode had the same coroner, the same DA and the same bartender at the local cop bar. Otherwise each week it was a new main character, mostly.. Mostly because sometimes a guest actor would appear in a later episode as the same character again. So Darrin McGavin or John Saxon may appear in a season one episode and then again in a season four episode. Police Story was an anthology series with continuity.. Police Story also was ...
Spike Lee has signed on to direct the Showtime telepic/backdoor pilot The Game. Project, from Lee and Sam Kitts 40 Acres & a Mule company, takes a multiethnic look at the world of San Francisco street gangs.
Qin Yulong stood up fiercely and shouted, "Teacher Jia, is the backdoor of Wucheng Subhigh this severe already?!". Nobody believed that Guo Huai got the first place since everyone in Wucheng County knew who he was. He was Fourth Brother of Wucheng Vile Tetrad who did not bother to learn anything except the five vices. Furthermore, 1.3 billion of the gambling entry would drop to only 300 million left if Guo Huai really managed to proceed to the second round.. "Its impossible that he completed a hundred questions within ten minutes. Thats an average time of six seconds per question. In addition, not every question is an objective question," Qiao Mu said loudly under the stage.. "Hahah, Li Xunyu, arent you supposed to give an explanation? Is Guo Huai your illegitimate son that you want to help him so much? Hahah!" the headmaster of First High said and laughed.. "Jia Yuntao, are you done now?" Li Xunyu asked loudly.. "Leader Jia, Ill give them an explanation," Lin Shuang said to the panicking ...
One April Sunday, more than a thousand people came together to march against Arctic drilling and the Port of Seattles backdoor deal with Shell Oils drilling fleet-and for a better future.. ...
As a white dude im favourable to have ebon horny white wife. Shes my queen and shes fucking hawt as hell. Watch me fucking her backdoor with my fingers during the time that that babe pokes her dark pussy with sextoy.
:( This morning around 2 a.m., Daisy ran to the backdoor and cried out wanting out very badly. This is very unusual as she is not at all a vocal dog. I assumed she had to go to the bathroom, so I let her outside. After a little while, I walked out on the porch to check on her and she was eating grass like a little cow! Frenetically pulling mouthful after mouthful out of the ground and eating it! It was seriously like an addict getting a hit of drugs. I knew that was going to make her sick so I
Returns a transformed queue backed by the given queue. Each object is passed through the transformer as it is added to the Queue. It is important not to use the original queue after invoking this method, as it is a backdoor for adding untransformed objects. Existing entries in the specified queue will not be transformed. If you want that behaviour, see ...
Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabolism; however, this group of disorders now includes lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia (CDPX2), CHILD syndrome, HEM dysplasia, and some cases of Antley-Bixler syndrome (1-3). Due to the extremely rare occurrence of some of these disorders, the full phenotypic spectrum has yet to be defined. Cholesterol transport in cells can also cause a disorder known as Niemann-Pick Disease type C (NPC). NPC belongs to a group of disorders known as lysosomal storage disorders. The purpose of this protocol is to 1) allow for the collection of biomaterial and medical information that can be studied to gain insight into the pathological processes; 2) allow for the collection of DNA and medical information from individuals who have a ...
CONTACT: Daniel Schuman, policy director, [email protected], 240-237-3930. Washington, D.C.-Today a coalition of 43 civil liberties, civil rights, and transparency organizations, coordinated by Demand Progress Action, delivered a letter to House Judiciary Committee members urging them to vote for the "Shut the Backdoor" amendment, offered by Reps. Ted Poe (R-TX) and Zoe Lofgren (D-CA), to help close the "backdoor search loophole" when the House Judiciary Committee holds a markup of the USA Liberty Act on Wednesday.. The USA Liberty Act reauthorizes Section 702 of the FISA Amendments Act, which allows collection of foreign intelligence information but sweeps in U.S. person communications. The government uses the loophole to search its massive databases-without first obtaining a court-issued warrant based on probable cause-for information about U.S. persons and persons inside the United States. These powers are dangerous in the hands of any president, but most especially in the hands of President ...
As pictured its an unusual looking saucer like nest and all the wasps are covering its underside. I havent been able to get too close to get a good close up of one (just too darn many and dont want to risk getting swarmed) they seem to be about an inch long or so and blackish with amber wings? the only refernece to anything similar on the web indicated they might be nocturnal wasps? any idea what these guys are and if they are dangerous . generally we have a lot of wasps here that build smaller nests , potter, mud, paper, etc. and we let them be. These are different in their numbers, the nest I guess is about 10 inches across and it looks like its holding hundreds of these guys. Our inclination is to leave them alone but we dont want swarms outside our backdoor or a growing population if they are not beneficial. Perhaps you can help us i.d them ...
Was Joe a Greek in college?". *: She is absolutely a total GFE, no limits, except no Greek. (Well...I say "no Greek" - - if she is really hot for you, and if she is really turned on in a long session, she might beg for a finger in her anus while you suck her clit, but she is just too tiny and tight for any "real meat" in the backdoor.). *: Orion hit a rabbit once; but though sore wounded it got to the bury, and, struggling in, the arrow caught the side of the hole and was drawn out.nb.... Ikey the blacksmith had forged us a spearhead after a sketch from a picture of a Greek warrior; and a rake-handle served as a shaft.. *: In fact all the competing theories have developed their own specialized jargons and have a tendency to be difficult to penetrate.. *: A barbarous jargon.. *: The noisy jay, / Jargoning like a foreigner at his food.. *: Such gibberish as children may be heard amusing themselves with.. ...
Like other Trojan, Dos/Rovnix.gg can open a backdoor to outside threat like Dos/Rovnix.V, Dos/Rovnix.w onto the affected computers. It can trigger many pop-up ads or links when search online, and keep redirected to some malware web sites when they search online. Dos/Rovnix.gg poses a serious risk to the security of the system and the users information. The infection is able to connect to remove servers and download other computer threats. Malware, spyware, scamware and other viruses can be infiltrated into the computer without your knowledge and permission. So you have to get rid of Dos/Rovnix.gg from your system in a hurry. ...
Significant sign that this virus is present in your computer is when it automatically finds CHM files from its current directory. You may see that your computer is automatically searching or browsing file folders. It is also automatically patched up to CHM files making these files a new stream. Significant changes can be seen in each HTML page in the CHM file to reference this stream. The W32.Chamb program can enter the system through security exploits. It searches the system for programming vulnerabilities and enters through it. It may also enter through an already existing backdoor. A remote user may download this file to the compromised system ...
Another way to see this university hikes is as a backdoor tax on the rich. The fact that the "Left" is against this just shows how far they have gone from protecting working class people. Because we have to ask ourselves; who goes to university? In Canada only 20% of the population go. If we use the 99% - 1% framework we would have at least 19% from the 99% going to university. So with this way of looking at things, the "Left" is correct to fight for the university educated bourgeois class since the "Left" represents the 99%. But we get a much different story if we use the more traditional quintile framework of blocks of twenty percent in terms of wealth; with the bottom 20%, the poor: the next 20%, the lower middle (working) classes; the next quintile; the middle classes, the second highest: the upper middle (bourgeoisie), with the top quintile being the wealthy. A proper Left party should orient itself to look after primarily the interests of the lowest three quintiles (although obviously ...
Damage assessment still incomplete. Giving someone a second chance seems noble enough, but how does SecurePoint know that this person deserves a second chance? The investigation isnt finished and we dont even know the full extent of the crimes he committed. Chances are likely that he did more than just write two viruses. It is well known that criminals have attempted to place backdoors in commercial software. SecurePoint has negligently, potentially opened up its software to such attacks, which is compounded by the fact that it is a firewall company. On top of all this, you have to ask why doesnt it hire one of the thousands of people deserving of getting a job first -- people whose only flaw is that they did not get a deluge of media attention by causing millions of dollars in damage. Concerning the quote of unique knowledge, SecurePoint claims that the first thing it is going to do is train him how to write software. It would appear that unique knowledge is not very relevant for the job. ...
He never went there. I really wasnt qualified to be in such a huge number of men and women, or people in todays society. The cologne the man of interest in you. Though zodiacal opposing characteristics of their future happiness depends upon your life to joy and joy to love and love to dignity, insofar as the conversation continue to flow. Be naturally retained the method of information, avoid it as much as you learn to have a bath and go through our pick of the day. The trick is going to realize that he or she offended you and your partner 10 minutes to earn a few vital brownie points. It would be a case of someone who you are. Okay, so there are some female friendship or where the body-hating star breaks through your own feelings is one of those who knows her mind. Secret cards to confuse your speech deficiency. And thats when you start making successful relationship or what happened to having a company and before your next rendezvous. You should do this even if youve only known them for a ...
Sanity, Madness and the Family / Family Life: An Urgent Retrospective. It is just over 50 years since the publication of Sanity, Madness and the Family, R.D. Laings and Aaron Estersons groundbreaking study of schizophrenia in 11 young women. Birkbeck Research in Aesthetics of Kinship and Community (BRAKC) and the Birkbeck Guilt Working Group have organized a one-day symposium to discuss the lasting impact of that book.. Do people still read it? Why is it almost never referred to in psychotherapy trainings in this country? How have the ideas it introduced been either absorbed into or rejected by clinical, academic and more general discourses about the family and mental/emotional illness?. Andrew Asibong, co-director of BRAKC, will facilitate the event, and participants will include Jacqui Dillon, Robbie Duschinsky, Suman Fernando, Amber Jacobs, Oliver James, Lucy Johnstone, Chris Oakley, Lynne Segal and Anthony Stadlen.. Programme:. Welcome by Andrew Asibong (co-director of BRAKC):. ...
The Bosnian civil servants who had worked on these questions, coordinating the answers to these responses with other levels of government, felt let down.. The conventional wisdom today is that Bosnia is stuck because its leaders and divided administrations are unable to coordinate and unwilling to reform. In reality, for far too long, the EU has acted like a school teacher telling her pupils how lucky they are to be allowed into the cellar of an elite school by the backdoor, despite being corrupt, lazy and incompetent. It is a narrative that falsely credits foreigners with every achievement and every reform - a narrative that the institutions of the Bosnian protectorate had a strong interest in perpetuating. This self-serving mythology is today widely believed and contributes to a vicious circle where the EU treats Bosnia differently from all of its neighbours, constantly shifting the finishing line and forcing Bosnia to fail, then interpreting this as evidence that Bosnia had to be treated ...
The Bosnian civil servants who had worked on these questions, coordinating the answers to these responses with other levels of government, felt let down.. The conventional wisdom today is that Bosnia is stuck because its leaders and divided administrations are unable to coordinate and unwilling to reform. In reality, for far too long, the EU has acted like a school teacher telling her pupils how lucky they are to be allowed into the cellar of an elite school by the backdoor, despite being corrupt, lazy and incompetent. It is a narrative that falsely credits foreigners with every achievement and every reform - a narrative that the institutions of the Bosnian protectorate had a strong interest in perpetuating. This self-serving mythology is today widely believed and contributes to a vicious circle where the EU treats Bosnia differently from all of its neighbours, constantly shifting the finishing line and forcing Bosnia to fail, then interpreting this as evidence that Bosnia had to be treated ...
Windows Active Guard is a rogue application, which resides in your computer memory and taken control of your OS. It is a malicious security software, which poses as if it is a genuine Windows Cleaning Software and tries to persuade you to purchase its full licensed version. It displays lots of irritating alerts that your system is infected with lots of malware and spyware and you need to take urgent action for removing them by downloading and purchasing its licensed copy.. But the fact is that Windows Active Guard itself is a malicious software. It gets entry to your system through some backdoors created by trojans and malware residing in your system.. Please be advised that in case you are getting lots of alerts on your system for cleaning your system and purchasing Windows Active Guard, you need to take urgent action for the removal of Windows Active Guard from your system.. ...
After my talk on Dynamic Cryptographic Backdoors, I had very interesting feedback from OpenBSD developpers. Regarding the second technique I have presented (patching and modifying encryption algorithms in memory to weaken them on-the-fly), they make a very interesting comment about encryption systems like Blowfish or Twofish. These two algorithms have some sort of polymorphism that makes almost impossible to use S-box signature. Well, it is partly true but using some local entropy measure should help to locate area to patch (or special functions like the PHT ...
Well after ten years of skiing on used boots my good friend Pete over at Backdoor Sports here in the ski town of Steamboat Springs Colorado tempted me with a
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Viddyoze provides fully automated creation of logo stingers, intros and outros for users with no experience with animation. Using Blender for animation and distributed rendering, we provide our users with finished video within minutes. All they need to do is upload their logo or image, type in their text, pick colors that match their brand, and click "Render". In this presentation well talk about issues we faced and workarounds we developed to speed up rendering, auto-fit any text and make sure our templates work with any logo, and any color. To top it all well talk about using Blender motion tracking to create some Viddyoze Live Action templates.. More about Viddyoze motion graphics templates: www.viddyoze.com/go More about Viddyoze Live Action templates: www.viddyoze.com/backdoor. ...
A group of more than 140 technology companies, prominent technologists, and civil society groups have signed a letter addressed to President Barack Obama urging him to reject any government proposals that might allow law enforcement to force technology companies to install backdoors or otherwise weaken the encryption they use to secure their devices and data. The signatories include USACM, as well as policy experts such as SRI International Computer Science Lab principal scientist Peter G. Neumann, moderator of the ACM Risks Forum.. Code.org Targets High School Computer Science ...
Trying to cope with adult acne can often be as damaging to your self-esteem as when you were younger. After all, who expects to see acne in a 30, 40, or 50 year old? If youre well beyond your teen years and still experiencing acne outbreaks, you are probably wondering where this is coming from and why. You are not alone. While a large percentage of acne patients are teenagers, many adults also suffer from frequent outbreaks or blemishes on a regular basis.. Women seem to have the most problems with adult acne. While other women are slathering on anti-aging creams, you have to be careful to use anything that will make you break out. To get rid of the acne, you may also require different types of treatment methods than those used for younger individuals.. Causes of Adult Acne. Why are you having to deal with acne when you thought youd left it all behind? As the number of acne cases in adult women continues to grow, there has been increasing interest in its correlation with hormones. Aside from ...
Several hypotheses have been proposed to explain a familial disease that caused the bizarre appearance of the royalty, including Marfan syndrome, Wilson-Turner X-linked mental retardation syndrome, Fröhlich syndrome (adiposogenital dystrophy), Klinefelter syndrome, androgen insensitivity syndrome,1 myotonic dystrophy,2 and aromatase excess syndrome in conjunction with sagittal craniosynostosis syndrome, or Antley-Bixler syndrome.3 Hawass and co-workers published results of their molecular genetic studies on mummified remains of the royal family of the 18th dynasty to determine any pathologies and familial disease that might have afflicted them.4 Tests showed no sign of craniosynostoses and Antley-Bixler or Marfan syndrome, and could find no evidence of gynaecomastia because the anterior chest wall of the mummies was not available. Therefore, the presence or absence of gynaecomastia is not clear. The feminised appearance of Akhenaten was excluded by the pelvic bone shape. The study group also ...
By Cees Bruggemans. Interest rate decisions are not easy moments, as today showed once again, with the SARB keeping interest rates unchanged, prime being kept unchanged at 11%.. It may have looked effortless, keeping rates unchanged, yet so many private analysts expected a 0.5% rate cut. Then again, then there had been the SARB Governors warning in May that there wouldnt be cuts at every MPC meeting (a reliable prediction in the long run) and that there was no more scope for significant cuts (sounding as if at least keeping a small backdoor half open).. But ultimately every interest rate decision remains a difficult one, given that so much is at issue, considering the level of indebtedness in the economy and the way economic agents respond to changes in rates.. There are many aspects taken into account when deciding where to pitch interest rates. Given todays fashions in the world at large, where our SARB finds itself in good company, the main considerations can be simply summarized and ...
Known for: Taking travelers to Europe Through the Backdoor. Rick Steves, 78, is an idealist. He doesnt expect you to agree with him. But hes not speaking his mind or advocating controversial legal reform to be popular. In fact, his opinions sometimes cost him business. None of this fazes him.. Travel made him this way. The tenets to which he now clings were developed over the years, in close commune with other people of the world. Now, he wants the same for others. This fall, his book Travel as a Political Act won the Society of American Travel Writers Lowell Thomas Travel Book of the Year award. It is a book not about fun in the sun, or where to find a budget room in Budapest, but rather one that encourages Americans to broaden their perspectives through travel. Steves, who went to college intending to spend his life teaching piano, became a travel guru by accident. After living out of a backpack in Europe during the summers, hed return to campus and share his knowledge about budget travel ...
So far, they hadnt been able to unlock it and this showed us the sheer strength of the iPhones security system. Many users thought that if the government itself wasnt able to unlock the phone, their phones were quite safe from incursion of NSA, CIA and other snooping agencies. Apple knew that it had to oppose the order as much as possible because it would set a dangerous precedent for the public and the next thing we know, the government demands a backdoor to be installed in the very system and allow data collection directly without any hassle. But, the government eventually cracked it and now the case by the Justice Department will be dropped as the sole point was to get the phone cracked and ready. However, if Apple is serious about it, it will ask the government to declassify its hacking attempts to the company so that the security system can be upgraded accordingly. But, dont expect any help from the government department on that since there is considerable beef between the two in the ...
I vaguely remember how it was to be young, keen and thrusting, so to speak. However, apart from Moses, the greatest con trick perpetrated on the human race was by the guy whose name is synonymous with portal. His sin was to become a serial releaser of defective SW in his quest to become the worlds richest person - a kind of backdoor world domination envisaged by his predecessor three millenia earlier. Perfect software has been shown mathematically impossible. Notwithstanding, it would be nice if some developers would take the odd week/month off, have a few beers, spend more time with the family, smell the roses. Best inspiration comes when least expected eg in the proverbial bath. The brain is a strange implement; its easier for it to remember past events, resolve problems, etc when it is not presently engaged on that activity - kind of backgrounded. Limbic system?, subconscious? Who knows ...
The Cascade Range (and U.S. 97, which rides its eastern flank) splits Washington and Oregon in two as decisively as divorce papers, keeping the green (and greenies) on the west side and all that sagebrush (and Republicans) on the east. Drive this route and youll get just enough of both but not too much of either. Start in Washingtons Yakima Valley for the thrill of plunging 2,000 feet into the gaping Columbia River Gorge, where windsurfers might give you a pink-sailed escort across the High Bridge and over the state line. Climb back up and the road spits you out into high-desert country miles of dry, rolling hills marked by a series of blink-and-you-miss-them towns like Wasco, Grass Valley, and Shaniko and views of U.S. 97s 10,000-foot volcanic sentinels: Mounts Hood, Washington, Jefferson, and Bachelor, plus the Three Sisters. This is the backdoor route into Bend with enough holy-cow cornering to make you want to do it all over again in a faster car ...
Assisting electronic commerce by helping put in place Certification Authorities and digital signature laws However readers who have followed GACK politics will recognise the above for what they are: attempts to put in place GACK via indirect routes (respectively: the four horsemen of the infocalypse argument (the fallacy that terrorists will obey laws and use encryption systems which have government backdoors), the Clipper I, II and III attemps (various attempts by the US government to bribe and bully companies into building a GACK architecture), and the UK TTP (Trusted Third Party) proposal where `TTPs are a euphamism for a Certification Authority (CA) which has been coerced by law to keep individuals private keys). Scenarios governments might shortly try this to request master keys for communications might be France, where the government is changing from a position of no encryption software without license, to a position of unlicensed encryption software being allowed provided that the ...
On December 4, 1968, world-famous theologian Father Louis Merton visited the ancient Dead City of Polonnaruwa, Ceylon, entered the Cave of the Spirits of Knowledge, and experienced a vision. Its claimed he found a backdoor to the Afterlife, that he looked into the Mind of God and escaped with a secret so powerful it could change all humanity…bring wars to a standstill…end forever the age-old hatreds between races, creeds and cultures. Six days later as Merton prepared to announce his discovery at a religious conference, he suffered a horrific death under mysterious circumstances. But the secret did not die with him. Merton left behind a journal… Years later, beautiful psychologist Angela Weber and her troubled fiancé, Ian Baringer, are on the hunt for Mertons long-lost journal and its door to the Afterlife. Angela, an agnostic, wants to help Ian heal the wounds of a traumatic childhood plane crash that took the lives of his parents. Ian, a defrocked priest, no longer trusts in ...
For example, if a user is trying to visit Tennis.com via Google, they may be directed to a fraudulent site designed to look like Tennis.com, where a backdoor Trojan will be immediately downloaded, internet security company ScanSafe reports. The Trojan could then allow cybercriminals control of the victims computer, leading to myriad security issues, including personal data theft and stolen FTP credentials. Once cybercriminals are in possession of a victims FTP credentials, any sites that victim manages can also be targeted for compromise - a common malware propagation tactic.. ScanSafe reports that Gumblar attacks have risen by nearly 190% in the past week, making it one of the fastest growing infections on the web. So far around 2,300 sites are known to have been affected.. Known as drive-by-download-attacks, these kinds of intrusions typically go after browser plug-ins installed by software and dont require opening or downloading anything.. ScanSafe said that Gumblar has largely targeted ...
We suggest you to remove LDR_ALCOHOL_R.EXE from your computer as soon as possible. LDR_ALCOHOL_R.EXE is known as: Backdoor.SuspectCRC [Ikarus]. MD5 of LDR_ALCOHOL_R.EXE = C278AF783AB675D5E9F011DB05513BB0 LDR_ALCOHOL_R.EXE size is 75169 bytes. Full path on a computer: %SYSTEM%\LDR_ALCOHOL_R.EXE Related Files: %COMMONDESKTOPDIR%\ALCOHOL 120%.LNK %TEMP%\NSR5.TMP %TEMP%\NSG6.TMP\USERINFO.DLL %PROGRAMS%\ALCOHOL 120%\A.C.I.D. WIZARD.LNK %PROGRAMS%\ALCOHOL 120%\ALCOHOL 120%.LNK %SYSTEM%\LDR_ALCOHOL.EXE %SYSTEM%\LDR_ALCOHOL_R.EXE
What does time travel have to do with all this? Like most developments in science and technology, time travel is an attempt to tip over the scales of humanity, to overcome these limits that keeps man chained to the laws of nature regarding his life and how he travels through it. Additionally, if time travel were possible, man would overcome the struggle of not knowing certain things like the backdoors of history or what he is bound to be in the future. He can even save himself from a certain direction of fate if only he knows where hes heading; he can live a life that spans a million years with just one visit to the past, and another to the future. He can immortalize himself, leaving a mark all through the universe, that man the unlimited has done what he thought he cannot ...
Please feel free to download non-copyrighted files and images to a CD-ROM disc, or USB thumb drive, so that if you are deployed, you have the information and resources with you. I have made every attempt to give credit where credit is due. If I have omitted a source or reference, it is merely accidental. If you notice a source or reference that is not cited appropriately, please notify me so that I may correct the problem.. Security - I have a very strict security policy. Nothing comes into or out of my site without being thoroughly screened and scanned for viruses. I have made every attempt to ensure that all documents and executable programs on these pages are free from viruses, worms, backdoor trojans, etc. However, people who write these nasty little programs are very clever. Make sure you have adequate antivirus software installed on your machine before downloading anything from any site.. Any product that is mentioned does not constitute an endorsement by myself, the United States Air ...
So this Barrett Brown character, who invents himself as a modern day gumshoe, looting salacious information via backdoor hacking in the vain of this too many secrets society ends up ruffling the Feds feathers somehow. This snowballs into him making threats to the FIB and getting sent up river. Assange, who hates the false-left more than the false-right, throws his two sucres into the argument. Our wikileaks exile in under-aged hookerville becomes de-facto Trump supporter, because Mob linked real estate pirate defeats Ms. Benghazi/Mena AK, former Watergate attorney (*cough* Vince Foster). Hey, why not?! Its not your country. So Barrett and some funding from nowhere create cut-out media-esque organizations to promote these cyberleaks in some pseudo-anarchistic press system. Im picturing Mr. Barrett donning a Guy Fawkes mask while downing the last crate of Bawls energy drink pounding away at his laptop. Meanwhile, globalist intelligence agency Stratfor (not upon Avon), holds information stating ...
So this Barrett Brown character, who invents himself as a modern day gumshoe, looting salacious information via backdoor hacking in the vain of this too many secrets society ends up ruffling the Feds feathers somehow. This snowballs into him making threats to the FIB and getting sent up river. Assange, who hates the false-left more than the false-right, throws his two sucres into the argument. Our wikileaks exile in under-aged hookerville becomes de-facto Trump supporter, because Mob linked real estate pirate defeats Ms. Benghazi/Mena AK, former Watergate attorney (*cough* Vince Foster). Hey, why not?! Its not your country. So Barrett and some funding from nowhere create cut-out media-esque organizations to promote these cyberleaks in some pseudo-anarchistic press system. Im picturing Mr. Barrett donning a Guy Fawkes mask while downing the last crate of Bawls energy drink pounding away at his laptop. Meanwhile, globalist intelligence agency Stratfor (not upon Avon), holds information stating ...
Theres no problem about TCPA enabled CPUs, only that you pay for a feature that you are not going to use. The thing is that Im sure somebody (big multinationals) is going to make pressure to force DRM to be enabled, to force hardware vendors to make hardware that will only boot a DRM enabled OS. It can, of course, be Linux. But in binary format and after you paid for the certification of it. I mean: Bye bye Gentoo, bye bye compiling your source, bye bye control of your own computer: A DRM os MUST have backdoors to be DRM compliant, you know, the RIAA should be able to check if you have divx, the Through police must be able to check all your personal data, just to be sure youre not a terrorist or a potencial one, both situations will lead you directly to the Ministery of Love. (as in 1984 ...
Due to ants simple system of communication, there are backdoors to their colonies. This has led to a number of social parasites, piggybacking the ant world.
... and the Antley-Bixler syndrome phenotype". American Journal of Medical Genetics Part A. 129A (2): 105-12. doi:10.1002/ajmg.a. ... and the Antley-Bixler skeletal malformation syndrome (ABS) to mildly affected individuals with polycystic ovary syndrome-like ... "Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... "Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome". Nature Genetics. 36 (3 ...
There are two distinct genetic mutations associated with the Antley-Bixler syndrome phenotype, which suggests the disorder may ... Antley-Bixler syndrome is named after Drs. Ray M. Antley (b. 1936) and David Bixler (b. 1940), who first described the disorder ... Antley-Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive ... Antley-Bixler syndrome is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome ...
... these include the Jackson-Weiss syndrome (proline to arg substitution at amino acid 252), Antley-Bixler syndrome (isoleucine-to ... dual effects that may lead to the assumption of a malignant phenotype by these cells. The 10 human rhabdomyosarcoma tumor ... mutation the same as the one for the Antley-Bixler syndrome viz., I300T). Somatic mutations and epigenetic changes in the ... of the cases of Kallmann syndrome. This syndrome is a form of hypogonadotropic hypogonadism associated in a varying percentage ...
Antley-Bixler syndrome, characterized by trapezoidal, craniofacial and skeletal synostosis, plus camptodactyly), inherited as a ... Marie PJ, Debiais F, Haÿ E (2003). "Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 signaling". ... Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)". Orr-Urtreger A, Bedford MT, Burakova T, Arman E, Zimmer Y, Yayon ... This mechanism is found in patients with Crouzon and Pfeiffer syndrome. The second, which is associated with Apert syndrome is ...
AT3 Antley-Bixler syndrome; 207410; FGFR2 Antley-Bixler syndrome-like with disordered steroidogenesis; 201750; POR Anxiety- ... GCNT2 Adult i phenotype without cataract; 110800; GCNT2 ADULT syndrome; 103285; TP63 Advanced sleep phase syndrome, familial; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ...
FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... polyposis syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome. ... Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal ... Two genes associated with juvenile polyposis syndrome are BMPR1A and SMAD4.[1] Gene testing may be useful when trying to ...
FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... and Roberts syndrome. Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely ...
Maffucci syndrome. Growth factor receptor. FGFR2:. *Antley-Bixler syndrome. FGFR3:. *Achondroplasia *Hypochondroplasia ... In 2006, a recessive form called "Type VII" was discovered (phenotype severe to lethal). Thus far it seems to be limited to a ... Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease ... Brittle bone disease,[1] Lobstein syndrome,[2] fragilitas ossium,[1] Vrolik disease,[1] osteopsathyrosis, Porak disease, ...
... two with sporadic Pfeiffer syndrome; and one with Antley-Bixler syndrome. The Crouzon phenotype was subdivided into three ... The phenotypes indicated the following syndromes: 12 patients with unrelated Crouzon syndrome, including nine sporadic and ... Conclusions. The phenotypes of patients with craniosynostoses unrelated to Apert syndrome proved quite variable, even in cases ... The phenotypes of these seven cases were three of regular Crouzon, two of unspecified craniosynostosis, and one each of top ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Antley Bixler syndrome ... This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms ... Antley-Bixler Syndrome With Genital Anomalies and Disordered Steriodogenesis. Antley-Bixler Syndrome Without Genital Anomalies ... Antley Bixler Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/antley-bixler-syndrome/. ...
Antley-bixler syndrome phenotype in three sibling fetuses.. Tzetis M, Konstantinidou A, Sofocleous C, Kosma K, Mitrakos A, ... An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. ... Neuroleptic Malignant Syndrome after whithdrawal of anticholinergic agents].. Kosma K, Roumbos B, Mamali M, Xipas K, Kolovou K ... Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex ...
There are two distinct genetic mutations associated with the Antley-Bixler syndrome phenotype, which suggests the disorder may ... Antley-Bixler syndrome is named after Drs. Ray M. Antley (b. 1936) and David Bixler (b. 1940), who first described the disorder ... Antley-Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive ... Antley-Bixler syndrome is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome ...
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... Mantero F, Opocher G, Rocco S. Long-term treatment of mineralocorticoid excess syndromes. Steroids. 1995 Jan. 60(1):81-6. [ ... implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci U S A. 1995 Nov 7. 92(23):10619-23. [Medline] ...
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3 ... Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J ... vanishing testis syndrome, or orchiectomy; Klinefelter syndrome; chemotherapy; or toxic damage from alcohol or heavy metals. ... Mantero F, Opocher G, Rocco S. Long-term treatment of mineralocorticoid excess syndromes. Steroids. 1995 Jan. 60(1):81-6. [ ...
Antley-Bixler syndrome has four phenotypes, some of which are associated with FGFR mutations and characterized by ... A) Antley-Bixler syndrome. B) Apert syndrome. C) Crouzon syndrome. D) Pfeiffer syndrome. E) Saethre-Chotzen syndrome ... A) Apert syndrome. (B) Carpenter syndrome. (C) Crouzon syndrome. (D) Nager syndrome. (E) Pfeiffer syndrome ... A) Apert syndrome. (B) Carpenter syndrome. (C) Crouzon syndrome. (D) Nager syndrome. (E) Pfeiffer syndrome ...
... and the Antley-Bixler syndrome phenotype". American Journal of Medical Genetics Part A. 129A (2): 105-12. doi:10.1002/ajmg.a. ... and the Antley-Bixler skeletal malformation syndrome (ABS) to mildly affected individuals with polycystic ovary syndrome-like ... "Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... "Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome". Nature Genetics. 36 (3 ...
... prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome ... Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.( ... This syndrome should be considered in the ... Phenotypes Go to the top of the page Help Find tests for this ...
... the enzyme most closely associated with the hormonal phenotype - provided an excellent genotype/phenotype correlation. Our ... title = "Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... T1 - Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ... Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered ...
... human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and ... correlated with clinical phenotypes. The POR sequence in 842 normal individuals revealed many polymorphisms; amino acid ... did not correlate with patient phenotypes; assays based on the 17,20 lyase activity of P450c17 (CYP17) ...
Phenotype grouping reflects the nature of human disease genetics. Thus, phenotype visualization may be complementary to ... Subsequently, we apply our method on phenotype dataset. In all these cases, our proposed method demonstrated better performance ... in map 10 as well as its neighbours Shprintzen-Goldberg syndrome (SGS, OMIM ID: 182212) and Antley-Bixler syndrome (ABS, OMIM ... For instance, if phenotype A is close to phenotype C within the metric space, and phenotype B is close to phenotype C, then ...
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Kelley, R. I., Kratz, L. E., ... mutations in two patients with achondroplasia phenotype (American Journal of Medical Genetics (2001) 104 (277-281)). Kelley, R ... Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Craig, W. Y., Haddow, J. E., ... Clinical variability in Rett syndrome. Naidu, S., Bibat, G., Kratz, L., Kelley, R. I., Pevsner, J., Hoffman, E., Cuffari, C., ...
... associated with Antley-Bixler syndrome (Antley and Bixler, 1975) to polycystic ovary syndrome (Miller, 2004). In light of the ... POR deficiency (Online Mendelian Inheritance in Man number 201750) encompasses a number of aberrant steroidogenic phenotypes ... 2006) Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. J Biol ... 2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36: 228- ...
Antley-Bixler Syndrome Phenotype Bone and Bones Chromosomes, Human, Pair 7 Congenital Hypothyroidism ...
Antley-Bixler Syndrome Phenotype 10. Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification ... A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene ... Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, ... This paper reports the first Korean case of a 52-year-old female patient with serologic weak D phenotype and weak D type 33 (c. ...
antley-bixler syndrome 10.3. CYP17A1 CYP19A1 50. transsexualism 10.3. AR CYP17A1 CYP19A1 ... Affiliated tissues include testis, ovary and testes, and related phenotypes are Decreased caspase 3/7 activity and cellular ... chondrodysplasia-pseudohermaphroditism syndrome 11.9. 29. male pseudohermaphroditism intellectual disability syndrome, verloes ... aromatase excess syndrome 10.8. 37. adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency ...
Antley-Bixler Syndrome Phenotype. 1 , 2 Antley-Bixler Syndrome with Disordered Steroidogenesis. 1 , 1 ... ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS. 1 , 1 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ...
Antley-Bixler Syndrome Phenotype * Mutation * Cytochrome P-450 Enzyme System * Oxidoreductases STRUCTURAL/FUNCTIONAL MODULARITY ...
Antley-Bixler Syndrome Phenotype 8. Clinical Characteristics of Marfan Syndrome in Korea ... A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene ... mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who ... Binding Sites , Circular Dichroism , Exome , Hearing Loss , Hearing , Humans , Interferometry , Phenotype , Wills ...
... of the human cytochrome P450 reductase A287P variant is the major contributor to its Antley-Bixler syndrome-like phenotype. ...
Antley-Bixler Syndrome Phenotype 15. Analysis of medical disputes regarding chronic pain management in the 2009-2016 period ... A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene ... Coronary-subclavian Steal Syndrome in a Patient with Takayasu Arteritis / 대한내과학회지 Min-Sun KIM; Nam-Young PAIK; Seung-Hyuk CHOI ... Estrogen-mediated Height Control in Girls with Marfan Syndrome Dong-Yun LEE; Hye-Sun HYUN; Rimm HUH; Dong-Kyu JIN; Duk-Kyung ...
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G,C) in the POR Gene. ... Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1. ... Real-Time PCR Kit for the Detection of Middle East Respiratory Syndrome Coronavirus RNA. ...
... also known as Antley-Bixler syndrome-like phenotype with disordered steroidogenesis. AHV is a rare variant of congenital ... in some cases resembling the pattern seen in patients with Antley-Bixler syndrome.. Defects in POR are a cause of isolated ...
Genotype and phenotype correlation of POR mutations : phenotypic heterogeneity of Antley-Bixler syndrome. G. Nishimura, ... Genotype and phenotype of Stickler syndrome caused by mutation in the COL2A1 gene. K.Hoornaert, Center for Medical Genetics, ... Cerebro-osseous-digital syndrome-Clinical and radiological phenotype with histological findings.. CM Hall, Department of ... The clinical and radiological phenotype of Shprinzen-Goldberg syndrome: five new cases. C. Hall, Deparment of Radiology and ...
  • The clinical spectrum of POR deficiency ranges from severely affected children with ambiguous genitalia, adrenal insufficiency, and the Antley-Bixler skeletal malformation syndrome (ABS) to mildly affected individuals with polycystic ovary syndrome-like features. (wikipedia.org)
  • POR deficiency (Online Mendelian Inheritance in Man number 201750) encompasses a number of aberrant steroidogenic phenotypes that range widely from the birth defects (midface hypoplasia, skeletal malformations, and ambiguous genitalia) associated with Antley-Bixler syndrome ( Antley and Bixler, 1975 ) to polycystic ovary syndrome ( Miller, 2004 ). (aspetjournals.org)
  • Knowledge about the specificity of CYP17A1 activities is of importance for the development of treatments for polycystic ovary syndrome and inhibitors for prostate cancer therapy. (mdpi.com)
  • There are close phenotypic similarities between CRD and polycystic ovary syndrome (PCOS). (malacards.org)
  • ABSTRACT Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5-20% of reproductive age women. (bvsalud.org)
  • Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.Most women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. (cdc.gov)
  • In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. (cdc.gov)
  • The number of these follicles usually decreases with age.About half of all women with polycystic ovary syndrome are overweight or obese and are at increased risk of a fatty liver. (cdc.gov)
  • Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control blood sugar levels. (cdc.gov)
  • By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood sugar levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood sugar levels that do not reach the cutoff for diabetes). (cdc.gov)
  • Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.Women with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood sugar levels. (cdc.gov)
  • Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression. (cdc.gov)
  • It is hypothesized that these effects are mediated in part by loss of CYP metabolites that regulate downstream signaling pathways directly or indirectly, and that perturbation of the interaction between POR and particular CYPs may vary, producing different phenotypes dependent upon the affected CYPs. (grantome.com)
  • Therefore, we could speculate that different phenotypes and subphenotypes are caused by rare private genetic variants. (bvsalud.org)
  • The phenotypes of patients with craniosynostoses unrelated to Apert syndrome proved quite variable, even in cases in which patients demonstrated the same genotype. (thejns.org)
  • The objective of the study was to examine such unresolved matters by detailed molecular studies and genotype-phenotype correlations. (cdc.gov)
  • Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. (bvsalud.org)
  • It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution. (biomedcentral.com)
  • This study aimed to investigate the association between HGI, components of metabolic syndrome (MS), and alanine aminotransferase (ALT) in a pediatric nondiabetic population. (bvsalud.org)
  • Phenotype grouping reflects the nature of human disease genetics. (biomedcentral.com)
  • In this paper, we take into account the nature of disease-related phenotypic data and investigate a novel method based on mm-tSNE [ 12 ] to construct several maps that visualize the non-metric similarities among phenotypes. (biomedcentral.com)