Armadillos: Burrowing, chiefly nocturnal mammals of the family Dasypodidae having bodies and heads encased in small bony plates. They are widely distributed in the warmer parts of the Americas.Chemistry Techniques, Analytical: Methodologies used for the isolation, identification, detection, and quantitation of chemical substances.Syndrome: A characteristic symptom complex.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)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.Abnormalities, MultipleMyelodysplastic 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.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.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.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.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)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.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.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.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)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).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)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.).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)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.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.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.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.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.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.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.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.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.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)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.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.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.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.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.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.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.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.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.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)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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.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.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)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.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.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.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).Felty Syndrome: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.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.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.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.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).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.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)ACTH Syndrome, Ectopic: Symptom complex due to ACTH production by non-pituitary neoplasms.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.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.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)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.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.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.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.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)Short Bowel Syndrome: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.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.Infant, Newborn: An infant during the first month after birth.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.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.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).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.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.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.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.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)Goldenhar Syndrome: Mandibulofacial dysostosis with congenital eyelid dermoids.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)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).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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.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.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).Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.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.White spot syndrome virus 1: A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.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.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.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.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.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.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)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)Hepatorenal Syndrome: Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.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.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.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.Adie Syndrome: A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)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.Polyradiculoneuropathy: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Ovarian Hyperstimulation Syndrome: A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. (1/15)

Coffin-Lowry syndrome (CLS) is characterized by cognitive impairment, characteristic facial and digital findings and skeletal anomalies. The gene implicated in CLS encodes RSK2, a serine/threonine kinase acting in the Ras/MAPK signalling pathway. In humans, RSK2 belongs to a family of four highly homologous proteins (RSK1-RSK4), encoded by distinct genes. RSK2 mutations in CLS patients are extremely heterogeneous. No consistent relationship between specific mutations and the severity of the disease or the expression of uncommon features has been established. Together, the data suggest an influence of environmental and/or other genetic components on the presentation of the disease. Obvious modifying genes include those encoding other RSK family members. In this study we have determined the expression of RSK1, 2 and 3 genes in various human tissues, during mouse embryogenesis and in mouse brain. The three RSK mRNAs were expressed in all human tissues and brain regions tested, supporting functional redundancy. However, tissue specific variations in levels suggest that they may also serve specific roles. The mouse Rsk3 gene was prominently expressed in the developing neural and sensory tissues, whereas Rsk1 gene expression was the strongest in various other tissues with high proliferative activity, suggesting distinct roles during development. In adult mouse brain, the highest levels of Rsk2 expression were observed in regions with high synaptic activity, including the neocortex, the hippocampus and Purkinje cells. These structures are essential components in cognitive function and learning. Based on the expression levels, our results suggest that in these areas, the Rsk1 and Rsk3 genes may not be able to fully compensate for a lack of Rsk2 function.  (+info)

Coffin-Lowry syndrome: odontologic characteristics. Review of the literature and presentation of a clinical case. (2/15)

A description is made of the general and odontologic characteristics of Coffin-Lowry syndrome, with a review of the literature and the report of a clinical case.  (+info)

Ataxia telangiectasia mutated proteins, MAPKs, and RSK2 are involved in the phosphorylation of STAT3. (3/15)

Phosphorylation at Ser(727) is known to be required for complete activation of STAT3 by diverse stimuli including UV irradiation, but the kinase(s) responsible for phosphorylating STAT3 (Ser(727)) is still not well discerned. In the present study, we observed that activation of ATM is required for a UVA-stimulated increase in Ser(727) phosphorylation of STAT3 as well as in activation and phosphorylation of p90 ribosomal protein S6 kinases (RSKs). Moreover, UVA-stimulated activation of upstream kinases, such as c-Jun N-terminal kinases (JNKs) and ERKs, involved in mediating phosphorylation of RSKs and STAT3 was defective or delayed in ATM-deficient cells. Furthermore, we provide evidence that RSK2-deficient cells were defective for UV-induced Ser(727) phosphorylation of STAT3, and the defect was restored after ectopic expression of transfected full-length RSK2. In vitro experiments showed that active RSK2 and JNK1 induce the phosphorylation of STAT3 precipitates from immunoprecipitation but not from glutathione S-transferase (GST) pull-down. Interestingly, the GST fusion STAT3 proteins mixed together with STAT3 immunoprecipitates can be phosphorylated by JNK. However, the in vitro phosphorylation of STAT3 was reduced by the GST-STAT3 beta protein, a dominant negative form of STAT3. Taken together, our results demonstrate that the STAT3 phosphorylation at Ser(727) is triggered by active RSK2 or JNK1 in the presence of a downstream kinase or a cofactor, and thereby the intracellular phosphorylation process is stimulated through a signaling pathway involving ATM, MAPKs, RSK2, and an as yet unidentified kinase or cofactor. Additionally, RSK2-mediated phosphorylation of STAT3 (Ser(727)) was further determined to be required for basal and UVA-stimulated STAT3 transcriptional activities.  (+info)

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. (4/15)

Coffin-Lowry syndrome (CLS) is caused by mutations in the RSK2 gene encoding a protein kinase of the Ras signalling pathway. We have studied two point mutations which cause aberrant splicing but do not concern the invariant GT or AG nucleotides of splice sites. The first, an A-->G transition at position +3 of the 5' splice site of exon 6, results in vivo and in vitro in exon skipping and premature translation termination. The natural 5' splice site, although intrinsically weak, is not transactivated under normal conditions. Consequently, replacement of an A/U by a G/U base pairing with U1 snRNA reduces its strength below a critical threshold. The second mutation, an A-->G transition 11 nt upstream of exon 5, creates a new AG near the natural 3' splice site. In vitro this synthetic 3' AG is used exclusively by the splicing machinery. In vivo this splicing event is also observed, but is underestimated because the resulting RSK2 mRNA contains premature stop codons which trigger the nonsense-mediated decay process. We show that a particular mechanism is involved in the aberrant splicing of exon 5, implying involvement of the natural 3' AG during the first catalytic step and the new 3' AG during the second step. Thus, our results explain how these mutations cause severe forms of CLS.  (+info)

Essential role of RSK2 in c-Fos-dependent osteosarcoma development. (5/15)

Inactivation of the growth factor-regulated S6 kinase RSK2 causes Coffin-Lowry syndrome in humans, an X-linked mental retardation condition associated with progressive skeletal abnormalities. Here we show that mice lacking RSK2 develop a progressive skeletal disease, osteopenia due to impaired osteoblast function and normal osteoclast differentiation. The phenotype is associated with decreased expression of Phex, an endopeptidase regulating bone mineralization. This defect is probably not mediated by RSK2-dependent phosphorylation of c-Fos on serine 362 in the C-terminus. However, in the absence of RSK2, c-Fos-dependent osteosarcoma formation is impaired. The lack of c-Fos phosphorylation leads to reduced c-Fos protein levels, which are thought to be responsible for decreased proliferation and increased apoptosis of transformed osteoblasts. Therefore, RSK2-dependent stabilization of c-Fos is essential for osteosarcoma formation in mice and may also be important for human osteosarcomas.  (+info)

p90 ribosomal S6 kinase 2 exerts a tonic brake on G protein-coupled receptor signaling. (6/15)

G protein-coupled receptors (GPCRs) are essential for normal central CNS function and represent the proximal site(s) of action for most neurotransmitters and many therapeutic drugs, including typical and atypical antipsychotic drugs. Similarly, protein kinases mediate many of the downstream actions for both ionotropic and metabotropic receptors. We report here that genetic deletion of p90 ribosomal S6 kinase 2 (RSK2) potentiates GPCR signaling. Initial studies of 5-hydroxytryptamine (5-HT)(2A) receptor signaling in fibroblasts obtained from RSK2 wild-type (+/+) and knockout (-/-) mice showed that 5-HT(2A) receptor-mediated phosphoinositide hydrolysis and both basal and 5-HT-stimulated extracellular signal-regulated kinase 1/2 phosphorylation are augmented in RSK2 knockout fibroblasts. Endogenous signaling by other GPCRs, including P2Y-purinergic, PAR-1-thrombinergic, beta1-adrenergic, and bradykinin-B receptors, was also potentiated in RSK2-deficient fibroblasts. Importantly, reintroduction of RSK2 into RSK2-/- fibroblasts normalized signaling, thus demonstrating that RSK2 apparently modulates GPCR signaling by exerting a "tonic brake" on GPCR signal transduction. Our results imply the existence of a novel pathway regulating GPCR signaling, modulated by downstream members of the extracellular signal-related kinase/mitogen-activated protein kinase cascade. The loss of RSK2 activity in humans leads to Coffin-Lowry syndrome, which is manifested by mental retardation, growth deficits, skeletal deformations, and psychosis. Because RSK2-inactivating mutations in humans lead to Coffin-Lowry syndrome, our results imply that alterations in GPCR signaling may account for some of its clinical manifestations.  (+info)

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (7/15)

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.  (+info)

Protein nutrition as therapy for a genetic disorder of bone? (8/15)

Bone formation is controlled by a network of transcription factors and signaling molecules. In this issue, , studying the role of the transcription factor ATF4 in a new mouse model of neurofibromatosis type I skeletal defects, demonstrate striking effects of changing dietary protein on bone formation abnormalities.  (+info)

*Coffin-Lowry syndrome

The Coffin-Lowry Syndrome Foundation acts as a clearinghouse for information on Coffin-Lowry syndrome and hosts a forum for ... Coffin-Lowry Syndrome Foundation "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. ... GeneReviews/UW/NIH entry on Coffin-Lowry syndrome Coffin-Lowry Syndrome Foundation http://ghr.nlm.nih.gov/condition/coffin- ... Coffin-Lowry was first described by Grange S. Coffin (b. 1923) in 1966 and independently by Robert Brian Lowry (b. 1932) in ...

*RPS6KA3

Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). RPS6KA3 has been shown to interact with CREB- ... Jacquot S, Zeniou M, Touraine R, Hanauer A (January 2002). "X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, ... Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germline mosaicism in Coffin-Lowry syndrome". ... GeneReviews/NCBI/NIH/UW entry on Coffin-Lowry syndrome Molecular and Cellular Biology portal. ...

*X-linked recessive inheritance

Coffin-Lowry syndrome; severe mental retardation sometimes associated with abnormalities of growth, cardiac abnormalities, ... Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss. Androgen insensitivity syndrome; variable ... Hunter's Syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, ... Progressive liver damage, skin lesions, and brittle hair may also be seen Siderius X-linked mental retardation syndrome; cleft ...

*Perivascular space

... and Coffin-Lowry syndrome. Dilation is also a common characteristic of diseases or disorders of vascular pathologies, including ... CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome) is a ... A third group disorders typically associated with VRS dilation are neuroectodermal syndromes. This includes polycystic brains ... These include diseases from metabolic and genetic disorders such as mannosidosis, myotonic dystrophy, Lowe syndrome, ...

*Human genetics

One example of an X-linked trait is Coffin-Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This ... "Cri Du Chat Syndrome (Cat Cry Syndrome)". Encyclopedia of Special Education. Wiley. Retrieved 27 September 2013. "Klinefelter ... Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely ... "Genetics of Marfan Syndrome". Medscape. WebMD LLC. Stafford, Kate; Mannor, Michael. "Mutations and Genetic Disease". Genetic ...

*Ribosomal s6 kinase

Mutations in this gene have been associated with Coffin-Lowry syndrome, a disease characterised by severe psychomotor ...

*Lujan-Fryns syndrome

The disorder soon became known as Lujan-Fryns syndrome. Fragile X syndrome Aarskog syndrome Coffin-Lowry syndrome FG syndrome ... Lujan-Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, is an X- ... Lujan-Fryns syndrome is a rare X-linked dominant syndrome, and is therefore more common in males than females. Its prevalence ... Marfanoid habitus describes a group of physical features common to Marfan syndrome. Including Marfan syndrome and LFS, ...

*Sex linkage

Alport's syndrome Aarskog-Scott syndrome Coffin-Lowry syndrome (CLS) idiopathic hypoparathyroidism incontinentia pigmenti ... ALD Duchenne muscular dystrophy Hunter syndrome Menkes disease (kinky hair syndrome) Glucose-6-phosphate dehydrogenase ... Ornithine carbamoyltransferase deficiency Rett syndrome (RS) vitamin D resistant rickets (XLH) fragile X syndrome Females ... B Fabry's disease Wiskott-Aldrich syndrome Bruton's agammaglobulinemia Color blindness Complete androgen insensitivity syndrome ...

*Bone disease

Ambe Avascular necrosis or Osteonecrosis Arthritis Bone spur (Osteophytes) Craniosynostosis Coffin-Lowry syndrome ... Hereditary multiple exostoses Klippel-Feil syndrome Metabolic Bone Disease Multiple myeloma Nail-patella syndrome ... Fibrodysplasia ossificans progressiva Fibrous dysplasia Fong Disease (or Nail-patella syndrome) Fracture Giant cell tumor of ...

*List of neurological conditions and disorders

... demyelinating polyneuropathy Chronic pain Cockayne syndrome Coffin-Lowry syndrome Coma Complex regional pain syndrome ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... ataxia Fibromyalgia Foville's syndrome Fetal alcohol syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... Shaken baby syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Snatiation Sotos syndrome ...

*Micrognathism

Catel-Manzke syndrome Bloom syndrome Coffin-Lowry syndrome congenital rubella Cri du chat syndrome DiGeorge's syndrome Ehlers- ... Marfan syndrome Noonan syndrome Pierre Robin syndrome Prader-Willi syndrome Progeria Russell-Silver syndrome Seckel syndrome ... Patau syndrome) Trisomy 18 (Edwards syndrome) Wolf-Hirschhorn syndrome X0 syndrome (Turner syndrome) It can be detected by the ... Danlos syndrome fetal alcohol syndrome Hallermann-Streiff syndrome Hemifacial microsomia (as part of Goldenhar syndrome) ...

*X-linked intellectual disability

Coffin-Lowry syndrome MASA syndrome MECP2 duplication syndrome X-linked alpha thalassemia mental retardation syndrome mental ... MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of ... It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. X-linked intellectual ... Several X-linked syndromes include intellectual disability as part of the presentation. These include: ...

*List of OMIM disorder codes

PDSS2 Coffin-Lowry syndrome; 303600; RPS6KA3 Cohen syndrome; 216550; COH1 Cold-induced autoinflammatory 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- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...

*Börjeson-Forssman-Lehmann syndrome

Wilson-Turner syndrome, Bardet-Biedl syndrome, Smith-Fineman-Myers syndrome (Chudley-Lowry syndrome), and Coffin-Siris syndrome ... Other diseases that may need to be distinguished from BFLS include Prader-Willi syndrome, Coffin-Lowry syndrome, Klinefelter ... Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disease that causes intellectual disability, obesity, and growth ... "Börjeson-Forssman-Lehman Syndrome - NORD (National Organization for Rare Disorders)". Retrieved 2015-07-25. "Börjeson-Forssman- ...

*List of diseases (C)

... of Coffin-Lowry syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Hayden syndrome Cohen- ... CCA syndrome Ccge syndrome CCHS CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 CDG syndrome ... articular syndrome Chudley-Lowry-Hoar syndrome Chudley-Rozdilsky syndrome Chudley-Mccullough syndrome Churg-Strauss syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...

*List of syndromes

CLOVES syndrome COACH syndrome Cobb syndrome Cockayne syndrome Coffin-Lowry syndrome Coffin-Siris syndrome Cogan syndrome Cohen ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... hematuria syndrome Long face syndrome Long QT syndrome Loose anagen syndrome Lown-Ganong-Levine syndrome Lowry-MacLean syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ...

*List of MeSH codes (C10)

... coffin-lowry syndrome MeSH C10.597.606.643.455.500 --- fragile x syndrome MeSH C10.597.606.643.455.562 --- glycogen storage ... cri-du-chat syndrome MeSH C10.597.606.643.210 --- de lange syndrome MeSH C10.597.606.643.220 --- down syndrome MeSH C10.597. ... melas syndrome MeSH C10.228.140.163.100.540 --- menkes kinky hair syndrome MeSH C10.228.140.163.100.545 --- merrf syndrome MeSH ... rett syndrome MeSH C10.597.606.643.690 --- prader-willi syndrome MeSH C10.597.606.643.700 --- rubinstein-taybi syndrome MeSH ...

*List of MeSH codes (C16)

... coffin-lowry syndrome MeSH C16.320.322.500.500 --- fragile x syndrome MeSH C16.320.322.500.625 --- lesch-nyhan syndrome MeSH ... coffin-lowry syndrome MeSH C16.320.400.525.500 --- fragile x syndrome MeSH C16.320.400.525.625 --- lesch-nyhan syndrome MeSH ... branchio-oto-renal syndrome MeSH C16.131.260.190 --- cri-du-chat syndrome MeSH C16.131.260.210 --- de lange syndrome MeSH ... branchio-oto-renal syndrome MeSH C16.320.180.190 --- cri-du-chat syndrome MeSH C16.320.180.210 --- de lange syndrome MeSH ...

*List of eponymously named diseases

Edward Alfred Cockayne Coffin-Lowry syndrome - Grange Coffin, Robert Lowry Coffin-Siris syndrome - Grange Coffin, Evelyn Siris ... Hakaru Hashimoto Havisham syndrome (a.k.a. Diogenes syndrome, Miss Havisham syndrome, and Plyushkin syndrome) - Miss Havisham, ... Havisham syndrome, Miss Havisham syndrome, Plyushkin syndrome)- Diogenes of Sinope (the particular usage, Diogenes syndrome, is ... syndrome - Moritz Simmonds Sipple's syndrome - John H. Sipple Sjögren's syndrome - Henrik Sjögren Sjögren-Larsson syndrome - ...
Find all books from Icon Health Publications James N Parker Philip M Parker - The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 9780497009564
Ribosomal s6 kinase 2 is a growth factor activated serine/threonine kinase and member of the ERK signaling pathway. Mutations in the Rsk2 gene cause Coffin-Lowry syndrome, a rare syndromic form of intellectual disability. The Rsk2 KO mouse model was shown to have learning and memory defects. We focused on the investigation of the emotional behavioral phenotype of Rsk2 KO mice mainly in the IntelliCage. They exhibited an anti-depressive, sucrose reward seeking phenotype and showed reduced anxiety. Spontaneous activity was increased in some conventional tests. However, KO mice did not show defects in place learning, working memory and motor impulsivity. In addition, we found changes of the monoaminergic system in HPLC and qRT-PCR experiments. Taken together, RSK2 not only plays a role in cognitive processes but also in emotional and reward-related behaviors. ...
Coffee Break Abduction is a American Double / Imperial Stout style beer brewed by Pipeworks Brewing Company in Chicago, IL. 4.22 average with 902 ratings, reviews and opinions.
Information about Langston University nutrition major. You can enter nursing with either an associates degree or BSN. As a licensed vocational nurse (LVN), you may provide patient care under the supervision of a registered nurse (RN).
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CLS hat ein Panel an verschiedenen Maus-Zelllinien isoliert aus unterschiedlichen Geweben. Eine bersicht ber alle derzeitigen murinen Zelllinien k nnen Sie hier Panel Maus Zelllinien. als PDF herunterladen. Die Informationen sind unterteilt in Tabelle 1, die allgemeine Daten enth lt, sowie in Tabelle 2, die Zellmarker, Tumorantigene, Mutationen sowie Zytokine, soweit bekannt, auflistet.. ...
Is there a way to have a metaclass similar to our ClasscallMetaclass at all, in Python3?? I just tested, having class Classcall(type): def __call__(cls, *args, **opts): try: classcall = cls.__classcall__ except AttributeError: return type.__call__(cls, *args, **opts) return classcall(cls, *args, **opts) class MyUniqueRepresentation: __metaclass__ = Classcall @staticmethod def __classcall__(cls, *args, **opts): out = super(cls,cls).__new__(cls, *args, **opts) print(classcall got,type(out), cls) cls.__init__(out,*args,**opts) out._reduction = (type(out), args, opts) return out Loading the above into python2, I get ,,, class Foo(MyUniqueRepresentation): ... def __init__(self, a,b): ... self.a = a ... self.b = b ... ,,, A = Foo(A,B) (classcall got, ,class __main__.Foo,, ,class __main__.Foo,) ,,, A._reduction (,class __main__.Foo,, (A, B), {}) But doing the same in python3, it gives ,,, class Foo(MyUniqueRepresentation): ... def __init__(self, a,b): ... self.a = a ... self.b = b ... ...

Brief clinical report: early recognition of the Coffin-Lowry syndrome.  - PubMed - NCBIBrief clinical report: early recognition of the Coffin-Lowry syndrome. - PubMed - NCBI

We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic ... Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the ... Brief clinical report: early recognition of the Coffin-Lowry syndrome.. Wilson WG, Kelly TE. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/7282775?dopt=Abstract

Coffin-Lowry Syndrome - UK Genetic Testing NetworkCoffin-Lowry Syndrome - UK Genetic Testing Network

Please note that this website is no longer being updated from April 2018. If you are interested in requesting any of the tests listed, please contact the laboratories directly. Laboratory contact details are available by using the "Find a Laboratory" search function. Alternatively, details are available after selecting a test and clicking on the blue "Service Level" title ...
more infohttps://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/coffin-lowry-syndrome-86/

Coffin-Lowry Syndrome Foundation - Resource Directory - About Special KidsCoffin-Lowry Syndrome Foundation - Resource Directory - About Special Kids

The Coffin-Lowry Syndrome Foundation was formed in 1991 to serve as a clearinghouse for information on the syndrome, a support ... There is no charge for membership or information related to Coffin-Lowry Syndrome. Donations are encouraged, however, as they ...
more infohttp://www.aboutspecialkids.org/Directory/Provider/1154/Coffin-Lowry-Syndrome-Foundation/

Coffin-Lowry syndrome - WikipediaCoffin-Lowry syndrome - Wikipedia

The Coffin-Lowry Syndrome Foundation acts as a clearinghouse for information on Coffin-Lowry syndrome and hosts a forum for ... Coffin-Lowry Syndrome Foundation "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. ... GeneReviews/UW/NIH entry on Coffin-Lowry syndrome Coffin-Lowry Syndrome Foundation http://ghr.nlm.nih.gov/condition/coffin- ... Coffin-Lowry was first described by Grange S. Coffin (b. 1923) in 1966 and independently by Robert Brian Lowry (b. 1932) in ...
more infohttps://en.wikipedia.org/wiki/Coffin%E2%80%93Lowry_syndrome

Frontiers | Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review | PediatricsFrontiers | Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review | Pediatrics

... an X-linked syndrome. The case we reported here manifests its signature characteristic of short stature, facial dysmorphism, ... an X-linked syndrome. The case we reported here manifests its signature characteristic of short stature, facial dysmorphism, ... Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, ... Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, ... Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature ...
more infohttps://www.frontiersin.org/articles/10.3389/fped.2018.00430/full

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.  - PubMed ...Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. - PubMed ...

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.. ... We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to ... These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin-Lowry syndrome. Early diagnosis ... These "new" clinical manifestations expand the phenotype of Coffin-Lowry syndrome and constitute an additional indication of ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/7681250?dopt=Abstract

OPUS Würzburg | Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal...OPUS Würzburg | Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal...

Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and ... Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in ... Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and ... Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and ...
more infohttps://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/14518

Coffin-Lowry syndrome             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramCoffin-Lowry syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Coffin-Lowry syndrome ... Are there any foods or supplements that have been shown to benefit people with Coffin-Lowry syndrome? How might Coffin-Lowry be ... Coffin-Lowry Syndrome Foundation Attn: Mary C. Hoffman 675 Kalmia Pl NW Issaquah, WA 98027 Telephone: 425-427-0939 (Best time ... Coffin-Lowry syndrome. is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary ...
more infohttps://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=26681

9780497009564 - Icon Health Publications   James N  Parker  Philip M  Parker - The Official Parents Sourcebook on Coffin-Lowry...9780497009564 - Icon Health Publications James N Parker Philip M Parker - The Official Parent's Sourcebook on Coffin-Lowry...

The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. At find-more- ... The Official Parent's Sourcebook on Coffin-Lowry Syndrome A Revised and Updated Directo. - new book ... The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. - new book ... The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. - new book ...
more infohttps://www.find-more-books.com/book/isbn/9780497009564.html

Facial Injuries| Facial Disorders | MedlinePlusFacial Injuries| Facial Disorders | MedlinePlus

Coffin-Lowry syndrome (National Library of Medicine) * Genetics Home Reference: Freeman-Sheldon syndrome (National Library of ... Coffin Lowry Syndrome (National Institute of Neurological Disorders and Stroke) * Hemifacial Spasm (National Institute of ... Moebius Syndrome (National Institute of Neurological Disorders and Stroke) * Parry-Romberg (Syndrome) (National Institute of ... Melkersson-Rosenthal Syndrome (National Institute of Neurological Disorders and Stroke) * ...
more infohttps://medlineplus.gov/facialinjuriesanddisorders.html

Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlusCraniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus

Coffin Lowry Syndrome (National Institute of Neurological Disorders and Stroke) * Craniosynostosis (Mayo Foundation for Medical ... Flat Head Syndrome (Positional Plagiocephaly) (Nemours Foundation) Also in Spanish * Guide to Understanding Apert Syndrome ( ... Genetics Home Reference: Nager syndrome (National Library of Medicine) * Genetics Home Reference: oral-facial-digital syndrome ... Genetics Home Reference: 3MC syndrome (National Library of Medicine) * Genetics Home Reference: Aarskog-Scott syndrome ( ...
more infohttps://medlineplus.gov/craniofacialabnormalities.html

Conditions that affect the hands, One Handed Typing and one handed keyboards might be needed.Conditions that affect the hands, One Handed Typing and one handed keyboards might be needed.

Coffin-Lowry syndrome ... short, tapered fingers D. Diabetes ... hand numbness, hand tingling Diabetic Peripheral Neuropathy ... VATER syndrome, Fanconi syndrome, TAR syndrome, Aase syndrome, Nager syndrome, Treacher Collins syndrome, Roberts syndrome, ... Marfan syndrome ... long fingers, spider-like fingers McCune-Albright Syndrome ... enlarged hands Mobius syndrome ... missing ... Sjogrens Syndrome ... limb tingling Sotos Syndrome ... large hands Spinal Muscular Atrophy type III ... fine tremor of the ...
more infohttp://www.aboutonehandtyping.com/conditions.html

Pediatric Restrictive Cardiomyopathy: Background, Pathophysiology, EtiologyPediatric Restrictive Cardiomyopathy: Background, Pathophysiology, Etiology

Cardiomyopathy in Coffin-Lowry syndrome. Am J Med Genet A. 2004 Jul 15. 128(2):176-8. [Medline]. ... Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol. 2005 ... Associated syndromes and noncardiac conditions include scleroderma, amyloidosis, sarcoidosis, Gaucher disease, Hurler disease, ... and RSK2 in Coffin-Lowry syndrome. [17, 18, 19] ... Hypereosinophilic syndrome (also known as Loeffler endocarditis ...
more infohttps://emedicine.medscape.com/article/895392-overview

Plus itPlus it

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. Cell 2004; ...
more infohttp://diabetes.diabetesjournals.org/content/58/11/2565

Table of Contents - March 01, 2003, 111 (3) | PediatricsTable of Contents - March 01, 2003, 111 (3) | Pediatrics

Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome Gregg B. Nelson, Jin S. Hahn ... Health Supervision for Children With Turner Syndrome Jaime L. Frías, Marsha L. Davenport, Committee on Genetics, Section on ... Toe Tourniquet Syndrome in Association With Maternal Hair Loss R. Scott Strahlman ... Survey of Current Practice of Pediatric Electrophysiologists for Asymptomatic Wolff-Parkinson-White Syndrome Robert M. Campbell ...
more infohttps://pediatrics.aappublications.org/content/111/3

Coordinated transcriptional regulation of bone homeostasis by Ebf1 and Zfp521 in both mesenchymal and hematopoietic lineages |...Coordinated transcriptional regulation of bone homeostasis by Ebf1 and Zfp521 in both mesenchymal and hematopoietic lineages |...

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. Cell. 117: ... Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development ...
more infohttp://jem.rupress.org/content/210/5/969

Encyclopedia of Human Genetics and Disease - Greenwood - Literati by CredoEncyclopedia of Human Genetics and Disease - Greenwood - Literati by Credo

CHARGE Syndrome. *Chediak-Higashi Syndrome (CHS). *Cockayne Syndrome. *Coffin-Lowry Syndrome (CLS) ...
more infohttps://corp.credoreference.com/component/booktracker/edition/10772.html

250.000 Papers & Essays! BIGGEST ESSAYS BANK. Essays, Free Term Papers, Free Research Papers and papers, courseworks....250.000 Papers & Essays! BIGGEST ESSAYS BANK. Essays, Free Term Papers, Free Research Papers and papers, courseworks....

Coffin-Lowry Syndrome. 4 pages, 1028 words. Cognative Development: Therories of Locke and Descartes. 8 pages, 2156 words. ...
more infohttp://essaysbank.com/essays/178

ICD-9-CM Diagnosis Code 759.89 : Other specified congenital anomaliesICD-9-CM Diagnosis Code 759.89 : Other specified congenital anomalies

Cleft palate-lateral synechia syndrome. *Cockayne syndrome. *Coffin-Lowry syndrome. *Coffin-Siris syndrome ... Laurence-moon-biedl syndrome and laurence-moon-biedl-bardet syndrome are no longer considered as valid terms in that patients ... Multiple malformation syndrome with facial-limb defects as major feature. *Multiple malformation syndrome with limb defect as ... Birt-Hogg-Dube syndrome 759.89. *Brachman-de Lange syndrome (Amsterdam dwarf, intellectual disabilities, and brachycephaly) ...
more infohttp://www.icd9data.com/2015/Volume1/740-759/759/759.89.htm

List of Syndromes - CureResearch.comList of Syndromes - CureResearch.com

Click murmur syndrome ... see Mitral-valve prolapse *Coffin-Lowry syndrome *Complex regional pain syndrome ... see Reflex ... XO syndrome ... see Turner Syndrome *XXX syndrome ... see Triple-X syndrome *XXXX syndrome ... type of Triple-X syndrome *XXXXX ... Restless Legs Syndrome *Rett Syndrome ... see Retts syndrome *Retts syndrome *Reyes Syndrome *Rubella congenital syndrome S ... XXXY syndrome ... type of Klinefelter syndrome *XXY syndrome ... see Klinefelter syndrome *XYY syndrome ... see Jacobs syndrome ...
more infohttp://cureresearch.com/lists/syndromes.htm

Swollen head - RightDiagnosis.comSwollen head - RightDiagnosis.com

Coffin-Lowry syndrome ... hydrocephalus*Cohen-Hayden syndrome ... large head*Colestyramine -- Teratogenic Agent ... ... FG Syndrome ... large head*FG syndrome 1 ... large head*FG syndrome 2 ... large head*FG syndrome 3 ... large head*FG syndrome 4 ... 3-M Syndrome - large head *3C syndrome - large head *Aase Smith syndrome - hydrocephaly *Aase Syndrome - Hydrocephaly *Aase- ... 3-M Syndrome ... large head*3C syndrome ... large head. A. *Aase Smith syndrome ... hydrocephaly*Aase Syndrome ... Hydrocephaly ...
more infohttps://www.rightdiagnosis.com/sym/swollen_head.htm

Free Essays, Term Papers, Research Paper, Book Reports. Over 180.000 Essays!Free Essays, Term Papers, Research Paper, Book Reports. Over 180.000 Essays!

Coffin-Lowry Syndrome. 4 / 1028. Cognative Development: Therories of Locke and Descartes. 8 / 2156. ...
more infohttps://manyessays.com/essays/173

p53 functions as a negative regulator of osteoblastogenesis, osteoblast-dependent osteoclastogenesis, and bone remodeling | JCBp53 functions as a negative regulator of osteoblastogenesis, osteoblast-dependent osteoclastogenesis, and bone remodeling | JCB

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. Cell. 117: ... It is also reported that Li-Fraumeni syndrome patients develop osteosarcoma as a component tumor and that p53 is mutated in 24 ... Germline TP53 mutations and Li-Fraumeni syndrome. Hum. Mutat. 21:313-320. ...
more infohttp://jcb.rupress.org/content/172/1/115
  • We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. (nih.gov)
  • Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. (mendelian.co)
  • We report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. (biomedsearch.com)
  • Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. (biomedsearch.com)
  • We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. (nih.gov)
  • Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. (biomedsearch.com)