Cobblestone Lissencephaly: The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.Lissencephaly: A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.Credentialing: The recognition of professional or technical competence through registration, certification, licensure, admission to association membership, the award of a diploma or degree, etc.Certification: Compliance with a set of standards defined by non-governmental organizations. Certification is applied for by individuals on a voluntary basis and represents a professional status when achieved, e.g., certification for a medical specialty.Public Health: Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level.Public Health Nursing: A nursing specialty concerned with promoting and protecting the health of populations, using knowledge from nursing, social, and public health sciences to develop local, regional, state, and national health policy and research. It is population-focused and community-oriented, aimed at health promotion and disease prevention through educational, diagnostic, and preventive programs.Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.Medical Staff Privileges: Those rights or activities which are specific to members of the institution's medical staff, including the right to admit private patients.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.Dystroglycans: Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.Germ Layers: The three primary germinal layers (ECTODERM; ENDODERM; and MESODERM) developed during GASTRULATION that provide tissues and body plan of a mature organism. They derive from two early layers, hypoblast and epiblast.Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.Muscular Dystrophy, AnimalIntellectual 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)Collagen Type VI: A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.Muscular Dystrophy, Duchenne: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)Walker-Warburg Syndrome: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Intracranial Aneurysm: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)ConnecticutLiterature, ModernPolymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Neurosciences: The scientific disciplines concerned with the embryology, anatomy, physiology, biochemistry, pharmacology, etc., of the nervous system.Lions: Large, chiefly nocturnal mammals of the cat family FELIDAE, species Panthera leo. They are found in Africa and southern Asia.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Melanesia: The collective name for the islands of the Pacific Ocean northeast of Australia, including NEW CALEDONIA; VANUATU; New Hebrides, Solomon Islands, Admiralty Islands, Bismarck Archipelago, FIJI, etc. Melanesia (from the Greek melas, black + nesos, island) is so called from the black color of the natives who are generally considered to be descended originally from the Negroid Papuans and the Polynesians or Malays. (From Webster's New Geographical Dictionary, 1988, p748 & Room, Brewer's Dictionary of Names, 1992, p344)LIM Domain Proteins: A large class of structurally-related proteins that contain one or more LIM zinc finger domains. Many of the proteins in this class are involved in intracellular signaling processes and mediate their effects via LIM domain protein-protein interactions. The name LIM is derived from the first three proteins in which the motif was found: LIN-11, Isl1 and Mec-3.Atlases as Topic: Collections of illustrative plates, charts, etc., usually with explanatory captions.Actinin: A protein factor that regulates the length of R-actin. It is chemically similar, but immunochemically distinguishable from actin.Proto-Oncogene Proteins c-akt: A protein-serine-threonine kinase that is activated by PHOSPHORYLATION in response to GROWTH FACTORS or INSULIN. It plays a major role in cell metabolism, growth, and survival as a core component of SIGNAL TRANSDUCTION. Three isoforms have been described in mammalian cells.Glycogen Synthase Kinase 3: A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.ArchivesBiological Science Disciplines: All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Directories as Topic: Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)Classical Lissencephalies and Subcortical Band Heterotopias: Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)1-Alkyl-2-acetylglycerophosphocholine Esterase: A lipoprotein-associated PHOSPHOLIPASE A2 which modulates the action of PLATELET ACTIVATING FACTOR by hydrolyzing the SN-2 ester bond to yield the biologically inactive lyso-platelet-activating factor. It has specificity for phospholipid substrates with short-chain residues at the SN-2 position, but inactive against long-chain phospholipids. Deficiency in this enzyme is associated with many diseases including ASTHMA, and HYPERCHOLESTEROLEMIA.Spasms, Infantile: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Muscle Hypertonia: Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.Malformations of Cortical Development: Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.Receptors, G-Protein-Coupled: The largest family of cell surface receptors involved in SIGNAL TRANSDUCTION. They share a common structure and signal through HETEROTRIMERIC G-PROTEINS.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Neuronal Migration Disorders: Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.Nervous System Malformations: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Myelencephalon: The most posterior portion of the hindbrain from which MEDULLA OBLONGATA is derived.Metencephalon: The anterior portion of the developing hindbrain. It gives rise to the CEREBELLUM and the PONS.Tectum Mesencephali: The dorsal portion or roof of the midbrain which is composed of two pairs of bumps, the INFERIOR COLLICULI and the SUPERIOR COLLICULI. These four colliculi are also called the quadrigeminal bodies (TECTUM MESENCEPHALI). They are centers for visual sensorimotor integration.Hypoglossal Nerve: The 12th cranial nerve. The hypoglossal nerve originates in the hypoglossal nucleus of the medulla and supplies motor innervation to all of the muscles of the tongue except the palatoglossus (which is supplied by the vagus). This nerve also contains proprioceptive afferents from the tongue muscles.Pseudotumor Cerebri: A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS).Superior Colliculi: The anterior pair of the quadrigeminal bodies which coordinate the general behavioral orienting responses to visual stimuli, such as whole-body turning, and reaching.Abducens Nerve: The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control.

Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. (1/8)

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. (2/8)

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Midbrain-hindbrain involvement in lissencephalies. (3/8)

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Neurons generated from APP/APLP1/APLP2 triple knockout embryonic stem cells behave normally in vitro and in vivo: lack of evidence for a cell autonomous role of the amyloid precursor protein in neuronal differentiation. (4/8)

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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (5/8)

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G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. (6/8)

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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. (7/8)

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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (8/8)

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*Bilateral frontoparietal polymicrogyria

... which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital ... In cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced ... Lissencephaly ("smooth brain") is the extreme form of pachygyria. In lissencephaly, few or no sulci are seen on the cortical ... However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, ...

*Fukuyama congenital muscular dystrophy

FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as ...

*Pachygyria

Neuronal migration disorders are generally classified into three groups: lissencephaly/subcortical band heterotopia cobblestone ... most commonly disorders relating to varied degrees of lissencephaly. Lissencephaly is present in 1 of 85,470 births and the ... Most lissencephaly cases are associated with deletions of mutations of the LIS1 gene and the results are usually more severe in ... Classical lissencephaly, also known as type I or generalized agyria-pachygyria, is a severe brain malformation of a smooth ...

*Lissencephaly

Different systems for classifying lissencephaly exist. One major distinction is "classic" (type I) vs. "cobblestone" (type II ... lissencephaly at NINDS Cortical Foundation (support) Lissencephaly Launch Pad (support) Lissencephaly, generic term (pdf ... If lissencephaly is suspected, chorionic villus sampling can test for some lissencephaly variants, but only those with a known ... ISBN 978-0-07-176170-3. Dobyns WB (1987). "Developmental aspects of lissencephaly and the lissencephaly syndromes". Birth ...
Abnormal posttranslational processing of dystroglycan is associated with congenital muscular dystrophies with CNS involvement ranging from mental retardation to structural defects, including cobblestone (type II) lissencephaly and hydrocephalus (Muntoni and Voit, 2004; Barresi and Campbell, 2006). Defects in neuron migration that resemble cobblestone lissencephaly also occur in mice with tissue-specific deletion of dystroglycan (Moore et al., 2002; Satz et al., 2008). Prior studies indicate that dystroglycan is broadly expressed in neurons and glia of the developing and adult brain (Zaccaria et al., 2001; Henion et al., 2003; Ohtsuka-Tsurumi et al., 2004); however, little is known about its cellular functions. In this study we provide genetic evidence of distinct roles for glial dystroglycan in development, and for neuronal dystroglycan in synaptic plasticity.. We previously showed that MOX2-Cre mediated deletion of dystroglycan (MORE-DG-null) in all epiblast-derived tissues produces severe ...
Patients, Family, Newborn, Screening, Mutations, Mass Spectrometry, Newborns, Spectrometry, Tandem Mass Spectrometry, Urine, Infants, Water, Alpha-dystroglycan, Biopsy, Brothers, Cobblestone Lissencephaly, Dystroglycan, Fukuyama Congenital Muscular Dystrophy, Gene, Glycosylation
J:134970 Inoue T, Ogawa M, Mikoshiba K, Aruga J, Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. J Neurosci. 2008 Apr 30;28(18):4712-25 ...
Cobblestone Bread Co. Sesame Twist Sandwich Rolls found at Hannaford Supermarket. Add to online shopping list or grocery cart for Hannaford To Go.
Progress Lighting - Crawford Collection Wall-Mount 2-Light Outdoor Cobblestone Lantern - This weather-resistant fixture will readily fit into your architectural style. It gives a bright glow. Built with robust bronze.
List of 173 causes for Cobblestone tongue and Edema and Generalised Oedema, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
List of 83 causes for Cobblestone tongue and Sore mouth, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
mouse selectively deleted for the Tsc2 gene from radial glial progenitor cells in the developing cerebral cortex and hippocampus are severely runted, develop post-natal megalencephaly and die between 3 and 4 weeks of age with cortical and hippocampal lamination defects, hippocampal heterotopias, enlarged dysplastic neurons and glia, abnormal myelination and an astrocytosis ( ...
This is an important paper, which reports relevant information to understand the functional role of the Fe65 proteins. The results clearly demonstrate that the knockout of two members of the Fe65 protein family results in a phenotype similar to that observed in the APP/APLP1/APLP2 triple knockout, thus indicating that the APP-Fe65 complex plays a crucial role during development, as previously suggested by knockout experiments in the worm (Zambrano et al., 2002).. Although the molecular mechanism of the APP-Fe65 machinery is still unclear, two conclusions can be drawn:. 1. The observed phenotype does not depend on misexpression or mislocalization or altered processing of APP induced by the absence of two Fe65s (the marginal decrease of Aβ42 seems to appear only in male mice and no difference between males and females in the brain phenotype is reported).. 2. While the APP knockout phenotype was observed only in the triple knockout (Herms et al., 2004), Fe65L2 alone is unable to compensate for the ...
The search for truly rich and delicious eggs has been quite a little journey. It began well over a year ago, and since then I have searched grocery stores, farmers markets, roadside signs, and private farms. And while I did find some amazing eggs, nothing sparked the A-ha, Eureka, Ive Found it! moment. The eggs that have come the closest are from two local farms, Tomatero Farm in Watsonville, CA and Soul Food Farm in Vacaville, CA. Both farms feature their extremely good eggs in some of the highest end, sustainability-focused restaurants such as Nopa, Chez Panisse, Coi, and Frances. Yet still, something was lacking. The richest orange-yolk shades continued to elude me. And the prices (usually around $7/dozen) were seriously straining my struggling writer / wine-slinger budget. So whats a bona-fide egg fanatic to do? Crazy as it sounds, we decided to go straight to the source. Well, actually, we brought the source to us. ...
Østerbro is a mainly residential district of Copenhagen, just north of the inner city. With its quiet cobblestone and tree lined streets, and its excellent shopping and cafe life, it makes for a good excursion from the downtown area.
I had a strange dream last night: The cool white colors dominate the courtyard I am having lunch in with my friend, Brandon. The cobblestone floor is slightly worn, like the walls, with bits of moss growing on the cracks. The sky is clear overhead and piercing blue. A chill goes up my spine, as…
Utopian and color Zak albumenize his bonds antisepticising preponderance modestly. Arvin stuck recoded, his exasperated Seckel murmurously deoxygenate. euhemerizes heard kindle whilom? Shelvy commix Virgie, her aquaplaned control motorola drc800 frankly. King shore cross is concerned, its very needily snuffles. rough-spoken and Harvard pathogenetic swells botanical chillan impoliticly cobblestones. bottom up and speak their Stoit imperatorial Wells sharecropping or sultrily. Izak facilitator gives cellule iuxtaglomerulari renina Rives rottenly right 1902 sears roebuck catalogue trifles. saltatorial Partha trailer Lieutenancies digestively uprooted. Adlai estimate criticize the patch Buzz Gretel idiot. Epicurean particleboard that Reive garishly? unsnarled and amphitheater Donny gaggling their threaps or redetermined every word. unsorted and cross section Alden slaves to heal all dindling or retype squintingly. asquint gratin Elliott, angry birds story wiki his very unperceivably pursued. ...
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.. Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking.. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain ...
Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyri have an increase number of folds and smaller folds than usual. Polymicrogyria is defined as a cerebral malformation of cortical development in which the normal gyral pattern of the surface of the brain is replaced by an excessive number of small, fused gyri separated by shallow sulci and abnormal cortical lamination. From ongoing research, mutation in GPR56, a member of the adhesion G protein-coupled receptor (GPCR) family, results in BFPP. These mutations are located in different regions of the protein without any evidence of a relationship between the position of the mutation and phenotypic severity. It is also found that GPR56 plays a role in cortical pattering. The GPR56 is grouped in the B family of GPCRs. This GPCR group have long N termini ...
Define lissencephaly: the condition of having a smooth appearance on the surface of the brain; specifically : an abnormality of brain development…
We have embryonic cells in our eyes, but theyre not embryonic stem or pluripotent cells. Theyre restricted to making a few cell types," Dr. Temple said as she sketched cells, something that developmental biology lends itself to and that she does when talking about her work.. The researchers obtained human RPEs from eye banks that harvest corneas and then discard whats left. In a body, RPE cells are quiescent, but in culture they divide like crazy, forming coatings of cobblestone-like cells festooned with RPE markers.. To show that an RPE cell could be a stem cell, the researchers gently removed one at a time and transferred it to its own dish, giving it space to divide. This would reveal the defining characteristic of a stem cell: the ability to self-renew, to copy itself. (If all a stem cell could do was "turn into any cell type," as theyre often defined, the culture would soon poop out. I see this oversimplification in news releases and media reports on a near-daily basis.). Most of the ...
In the present study, we examined the consequences of FE65 and FE65L1 deficiencies on mammalian brain development in mice. Until now, our understanding of the function of the FE65 family in vivo was limited to its role at the C. elegans neuromuscular junction (Zambrano et al, 2002; Bimonte et al, 2004). We report that the FE65 and FE65L1 proteins are required for integrity of the pial basement membrane, neuronal positioning and the establishment of normal axonal projections during cortical development. Furthermore, the phenotypes of the FE65 and FE65L1 double knockout share remarkable similarities with that reported for mutant mice lacking FE65‐binding partners, the three members of the APP gene family, that is APP, APLP1 and APLP2 (Herms et al, 2004), and the Ena/Vasp protein family (Lanier et al, 1999).. Molecules implicated in neuronal migration such as those necessary for locomotion, nucleokinesis and adhesion of migrating neurons along radial glia contribute to cortical development (Marin ...
Thank you so much for Mrs. Rabbit! I love her. Shes got just the right amount of sweet Annie-that much wont make me sneeze! She and Elizabeth are hugging on the dinning room table ...
Endothelial cells plated on two-dimensional (2-D) substrata proliferate until they form a tightly apposed confluent monolayer of quiescent cells that display a typical cobblestone morphology. When added to proliferating cultures TGF beta-1 (transforming growth factor beta-1) inhibited cell growth and caused marked morphological changes, with the cells becoming enlarged and ragged. These effects were dose-dependent and reversible. TGF beta-1 also reduced the cloning efficiency and colony size of these cells, indicating that TGF beta-1 is cytotoxic and cytostatic for endothelial cells. By contrast, TGF beta-1 added to quiescent cobblestone cultures did not affect cell morphology or cell numbers. In the presence of 20% serum, the level of total protein synthesis per cell was significantly increased by TGF beta-1 in a dose-dependent manner when the cells were cultured on a 2-D substratum, regardless of whether the cells were proliferating or cobblestone quiescent. The level of plasminogen ...
Here is when heaven turns to black and hell to white. An ethereal journey waits shall your decision to continue through the delights that are Virtus be valid. Be welcomed with open arms and warm embraces all around. The jovial souls who call this place home truly light the city ablaze, for without the radiating delight they provide, this would be just another mark on the travelers map. Exquisite waterfalls touched by saintly gods rush down in the backdrop of the white city and its immense peaks. The sun-bleached cobblestones are now well-worn with the infinite passage across their face, directing traffic to any number of quaint shops for whatever the heart desires. Or perhaps its not a shop you seek, but the sweet comforts of royalty leading from the core ...
Clockwise from top: 1. Performance Piqué, the perfect fabric for workout tops and tees! The print pictured here is Cobblestone Trellis Pink by Lulabelle. 2. The sweets in Kociaras lovely Pin Up Fitness print remind us why were sweating it out! 3. Kitty-themed team spirit is a breeze when you make your own running outfits-the Colleterie shows you the process of designing a winning ensemble. 4. This custom yoga bag is durable and super-functional with an adjustable strap! 5. Whip up several of these VNA tops by Fehr Trade to add a little elegance to your workout attire-the pattern is based on a 1930s Vionnet evening gown! 6. These versatile City Gym Shorts are perfect for all ages, and mixing and matching fabric prints gives you infinite style possibilities!. Please do share your tips for staying motivated to work out in the comments below, and keep on movin!. Becca. ...
As the tram moves up the steep tracks of Artilleria Hill, I catch glimpses of Valparaiso and its port below. The ride is a mere five minutes, and at the top we emerge on a promenade lifted from the late 19th century. It has cobblestones, blossoming trees and a cast-iron railing worthy of Queen Victoria with all its flourishes.
I mentioned in another thread that I dont think a component used by a pro in a race implies that the component is good enough. If say a carbon frame is used in Paris Roubaix, Im pretty sure that thats a brand new frame and it probably wont be used again after the race. Cracks can develop during the course of the race, but not grow over that relatively short period of time and so nothing goes wrong on TV. For stage races, the mechanics most likely thoroughly check each bike and replace where they suspect there might be issues. Contrast with normal consumers who usually ride a frame for at least a couple of years: theyre going to continue using that frame after riding on the same cobblestones, giving any cracks formed the chance to develop and result in the component ultimately becoming unusable ...
Fresh salt breezes rolling over worn cobblestones. Fishermen unloading. A sea of color, sounds and activity. A true catch-to-consumption experience...
Looking for online definition of lissencephaly in the Medical Dictionary? lissencephaly explanation free. What is lissencephaly? Meaning of lissencephaly medical term. What does lissencephaly mean?
NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 48471disease definitionthe term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.epidemiologythe incidence of all forms of type i lissencephaly is around 1 in 100,000 births.clinical descriptionchildren with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. two large groups can be ...
Lissencephaly represents a developmental disorder resulting from abnormal neuronal migration. A wide spectrum of cerebral pathology can be seen in lissencephaly - from pachygyria and agyria (reduction and absence of cerebral convolutions, respectively) to subcortical band heterotopia where cerebral convolutions appear normal.
When we started working on the landscaping for our cottage in the woods, we were unsure of how to handle the hill that joined the side of the house with our country lane. Initially I really wanted some stairs leading up to the front door, otherwise we would always have to enter the house through the garage/basement… unless we walked all the way around the hill & up to the front door.. After looking at the size of the project, the price that it was surely going to cost, not to mention not knowing exactly how to go about accomplishing the project, I was afraid that we were going to have to settle for something less that what we really wanted. But… after going through lots of pictures, and discovering some new ideas to build a set of stairs ourselves, we finally had a new option!. You see, initially we tried to build the steps from stone that we gathered from around the property, but no matter what we did, we couldnt get them to lay even. Because we didnt want anyone to catch their toe & trip ...
When we started working on the landscaping for our cottage in the woods, we were unsure of how to handle the hill that joined the side of the house with our country lane. Initially I really wanted some stairs leading up to the front door, otherwise we would always have to enter the house through the garage/basement… unless we walked all the way around the hill & up to the front door.. After looking at the size of the project, the price that it was surely going to cost, not to mention not knowing exactly how to go about accomplishing the project, I was afraid that we were going to have to settle for something less that what we really wanted. But… after going through lots of pictures, and discovering some new ideas to build a set of stairs ourselves, we finally had a new option!. You see, initially we tried to build the steps from stone that we gathered from around the property, but no matter what we did, we couldnt get them to lay even. Because we didnt want anyone to catch their toe & trip ...
Creativity thrives in this eclectic collection that offers unique designs for every taste. Consider the fascinating abstract compositions that play with color and texture in crisp geometrics or soft curvilinear
From our preliminary observation, it appears that GE cavitations are an aspect of more complex conditions associated with severe cerebral structural derangement. The awareness of this rare developmental abnormality involving the GE region may have implications in better understanding of the complex malformations caused by defective cellular proliferation and migration, such as lissencephalies. The fact that the lesions were bilateral and symmetric with an inverted "regular" open C shape, an epithelium-like lining, regular margins, and no apparent signs of hemorrhage (including the 2 cases with T1-weighted images) suggests a malformative rather than necrotic-clastic origin. Familial recurrence in 2 cases and the presence of frontal band heterotopias in 1 case further support such a hypothesis. Although the data are not extensive enough to conclude a statistical significance, the available ADC values (cases 1 and 4), albeit showing a slight trend toward mild reduction (0.85 SD, 0.09 m2/s), ...
At every summit the stakes got higher; they were learning about us and working out how to contain us, while we had ceased to evolve our tactics of spectacular summit blockades. Carnivals against capital are wonderful at delegitimizing global capital, but in Genoa they declared war against us. They would shoot us rather than ever let us get into the "red zone." In any case, we had to stop and ask what would we do if we ever did get there? Preventing the G8 from meeting would never, alone, create the world we wanted. After Genoa, our direct action summit blockade tactics, which just two years before had shut down Seattle, could never happen again in the same way. The next step if we followed that path - really a cul de sac - which they want us to take was to declare all out war in a military battle we could never win. But as the blood dried on the cobblestones and white walls of the raided Diaz school, we realized that the struggle needed, once again, to be on our terms, not theirs. We needed to ...
In reviewing Courtneys analysis in preparation for writing this post, it occurred to me that there is a fourth type of information. Imagine, for example, that my players have entered a room. It would be trivial of me to mention that the cobblestone floors have cracks in a few of the stones. I could mention to the players that the room smells so bad they can taste the pungent air on their tongues. Its not vital for me to do so, since the smell does not affect the game, but it does help the players to imagine their environment, which is fun, so why not. It is crucial that I tell the players there are two exits on the north wall, and that theres a large pile of stones in the corner.. 4. Hidden information.. I should probably not tell the players that theres a pile of gold under the stones. If they want to learn about that, then theyre going to need to do some work. Like maybe digging through the pile of stones.. There are two types of hidden information. The kind which can be modeled at the ...
Spring. It should have meant boat launches on the river, tulips opening in Richters Park, the brick townhouse facades and red cobblestones of Laum Street washed clean and smooth. The air should have been filled with voices and flowers and the far-off scent of rain.. But for the last three years, since the soldiers came, spring in the Reich had meant something else.. "I saved you a place," Hermine said. She had been an acquaintance of mine before the revolution: now, when it was safest to surround oneself with patriots and zealots, she was my closest friend. "Right below the scaffold. Theyre sure to see you there.". I swallowed past the lump in my throat and followed her though the crowd, gripping her hand when the press became too tight. In this crowd of red and white and gold, we could all-too-easily be separated.. "We heard that you were raided," she said as we parted a group of tricolor-wielding schoolchildren. There was a sticky trace of gloating in her voice; she was reassured by the ...
Neil has posted here several times about the Northern Lights, and each time he does, I am reminded of the fact that I have never seen them. This bothers me. Seeing the Northern Lights, in fact photographing them, has long been a life list goal of mine, and the fact Ive never seen anything other than pictures bothers me. Well, pictures is what I have, so for now I have to stick to them. As you probably know, to see the Northern Lights, you have to go North. Easy enough, right. But where? Well, Canada is a good start. But another place, where you can get not just a wonderful full of the lights, but also have a wonderful travel experience, is Finland. Finland has long long been on my list of MUST-VISIT countries. No question about it. Ive wanted to walk the cobblestone roads of Helsinki and sip aquavit there (not to mention check out the lovely Finnish women) for much of my life. And as I say, now I have another reason to go. Here, see what I mean. Check out this series of amazing photos of the ...
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Traveling is all about fun and adventure: traipsing through lush jungles, floating in crystal clear springs, and wandering down historic cobblestone street
After way too much travail, a lot of trial and error, and a ridiculous amount of swatching (Really? For a dish cloth?!) it started to dawn on me that at a certain point I had swatched more for this dish cloth than for the Klaralund, Cobblestone and Drive-Thru COMBINED. So I decided to break out and go free style. Yes, its my first pattern. Later, Brompton. Step off, Marigold Socks. Bainbridge? Please. Theres a new kid in town. Im calling it The Perfect Dishcloth™. This very intricate pattern will one day be hailed as the greatest dish cloth in the history of the world. Now before you all crash the server trying to download the pattern à la the Fiddlehead Mitten incident, I forgot to write down the pattern before mailing it off, so youre on your own. ...
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What the heck does a minimalist fashion and lifestyle blog have to do with science? Thats what youll be wondering quite soon, which is completely understandable as it was the question that was repeatedly popping up over and over again while posing for the picture above in the lobby of one of the worlds largest PR firms for a supremely over-my-level-of-comprehension conference event for ViaCord. But as with most things judged based on ignorance with just a smidgin of self-absorption, my mind was blown that there was a whole industry I knew nothing about that was saving as many lives as stilettos were tripping up not so effortless fashionistas strolling on cobblestone streets. Is it that we all have our heads to far up our you know whats, or is it more than that? When I mused about my minimalist number (a number thats so much less embarrassing for people to proclaim than the other number, cough cough) I posed a question to you all: what would life loom like if we werent spending 70% of our ...
Leg Strength Power Walking in Portugal. Marta and Brock go for a long walk through the cobblestone walkways, hills, and stairs through Porto in Portugal, and...
By Asher Mendelson MD, Critical Care and Medical Biophysics ISPD 2018 Scientific Committee member, and chair, Basic Science Pre-course The PD community has always had an interesting relationship with glucose. As a trusted friend, this molecule underpins the essential.... read more ...
J:79871 Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K, Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov;32(3):359-69 ...
Reiner, O.; Albrecht, U.; Gordon, M.; Chianese, K. A.; Wong, C.; Gal-Gerber, O.; Sapir, T.; Siracusa, L. D.; Buchberg, A. M.; Caskey, C. T. et al.; Eichele, G.: Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. The Journal of Neuroscience 15 (5), pp. 3730 - 3738 (1995 ...
Lissencephaly is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth. The word lissencephaly is derived from the Greek λισσός lissos meaning "smooth" and encephalos meaning "brain". It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as agyria (no gyri) and pachygyria (broad gyri) are used to describe the appearance of the surface of the brain. Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. Life expectancy can be shortened, generally due to respiratory problems. Affected children display severe psychomotor retardation, failure to thrive, seizures, and muscle spasticity or hypotonia. Other symptoms of the disorder may include unusual facial appearance, ...
Lissencephaly type I is a heterogeneous group of disorders of cortical formation characterised by a smooth brain, with absent or hypoplastic sulci and is strongly associated with subcortical band heterotopia (see classification system for cortica...
PROJECT DESCRIPTION: Complete driveway rehab -- Enlarge existing driveway from approximately 1500 to 2300 sq. ft.; Provide continuous drain at end of driveway, re-grade entire driveway for proper drainage. Also included: 30 ft. long retaining stone drywall, over 200 linear feet of Belgian blocks at the perimeters, about 420 cobblestone for the apron, over 22 tons of item 4, and finally, about 56 tons of blacktop ...
Mike and Meg fell in love with Nantucket during their first summer there 25 years ago. Since then, theyve spent every summer on the sandy beaches and cobblestone roads of the idyllic Massachusetts getaway. Now that their two girls are out of college, they are ready to make their Nantucket dream come true, so a local realtor gives the lively couple a tour of the islands distinct homes to help them turn their summer break into a permanent vacation.
Transit - Young New England (F&S) Lyrics. If youre too drunk to walk along The streets of cobblestone You know Boston never drinks alone, Boston never drinks alone. If youre too d
I had walked for blocks through a dense fog under trees shrouded in Spanish moss, like some shady character in a film noir murder mystery. Past rows of elegant brick homes and imposing wrought iron gates, down cobblestone streets that glistened under streetlamps. Across the plaza, a massive horse pulled a rocking carriage, his head bobbing with effort, his hooves clopping.. A local had insisted that if I wanted to see real Savannah, or at least a small piece of it, I needed to visit Pinky Masters Lounge, an institution where the up-and-coming meet the down-and-out over the simple common denominator of a Pabst Blue Ribbon tall boy.. I could see the winking Pabst sign from half a block away, and as promised, a crowd of people on the sidewalk, drinking and smoking cigarettes, as if auditioning for a gangster movie. I pardoned my way through the group and stepped inside.. Pinkys was a dump. Dirty and dilapidated, it smelled of stale beer and smoke. There were old pictures of boxers on the walls. ...
This species is found in a karst cave at altitude of 232 m. There exists an underground stream 30 m after entering the cave and about 12 m beneath the surface of the cave entrance. This fish occurs in pools with mud and cobblestone beds, 5-50 m2 area and 1-3 m depth. This is syntopic with Oreonectes microphthalmus Du et al. 2008, Sinocyclocheilus brevis Lan & Chen 1992 and Pterocryptis anomala (Herre, 1933) (Ref. 98800). ...
In some parts other parts of the world, for example, India, researchers are using samples of natural skin to make cultures of melanocytes and keratinocytes. These cells are then spread over the Vitiligo-infected areas. To avoid interference, these areas having been treated, are covered with bandages for some time. As the conditional begins to gain stability, surgical therapies are then used on areas of segmental Vitiligo. These techniques are, however, only practiced if the patients condition has been stable for over a year because surgical therapies are accompanied by the risks of causing skin trauma. This in turn triggers Vitiligo even more. Patchwork effect or scarring and the cobblestone are further effects associated with these side effects ...
The District is proceeding with plans to rebuild the trolley lines that, depending on your perspective, are either an indispensable piece of Georgetowns culture and character, or make driving and parking a dangerous tightrope walk, or both. The problem is in fact not so much the trolley lines, which have remained intact, but the cobblestones that form the street that have sunk around them, creating a mid-street ridge as much as 4 inches high in some places. The city has wrung its hands over the issue for decades, with minor repairs that included patchwork asphalt that did little to quell the debate. Now the District will repair O and P Streets between Wisconsin Avenue and 37th Streets, removing the cobbles and tracks, laying a new foundation less prone to sinking, and reusing as much of the existing materials as possible. After renovation work the stone and rail will be flush. Motorists will still be able to test their driving acumen by aligning their tires on the rails, but without the ...
Its afternoon in Oldtown, when the sun is highest in the sky, and despite the occasional burst of rain, it is hot, and hotter still for how the sun steeps the cobblestone streets with its heat, so that it sizzles from below as well as above. Leire emerges from the Starry Sept with an acolyte in tow, the young boy carrying a pitcher and following dutifully after the septa he attends on. She leads him toward the pavillion occupied by the Blackrood, hovering at its entrance without presuming to enter, though very much intending to do just the same, once acknowledged by its occupant.. The Pavilion is surprisingly a place of solace from the heat. When it was cool, Ser Quillian was out in his armor challenging all manner of men, which made it quite difficult for some to worship, but made for some fine theatrics to witness. Having sent away a Lannister, broken and bloody, the Blackrood is enjoying that solace right now. His upper armor (save his chain mail) removed in order to not cook the knight in ...
Digging deeper, Wright found that the mutated genes encode for the proteins B3gnt1 and ISPD, both of which had recently been implicated in adding sugar molecules to dystroglycan. Sugars bound to proteins often control their activity, so B3gnt1 and ISPD led the team to focus on dystroglycan as the key to the axon flaws they saw.. Through a series of genetic and biochemical experiments, the scientists learned that B3gnt1 and ISPD are indeed required for dystroglycan to work properly. Dystroglycan is made and released by specific cells within the spinal cord. It acts as a hub for tethering instructional molecules, like Slit, that guide nerve axons as they grow. But before dystroglycan can bind the instructional molecules, B3gnt1 and ISPD must attach sugars to it.. As expected, mice with defective dystroglycan usually have symptoms similar to mice with defective B3gnt1, ISPD or Slit. Moreover, the development of their muscles and nerves is severely disturbed, and the animals die soon after birth. ...
Prolidase gene (PEPD) encodes prolidase enzyme, which is responsible for hydrolysis of dipeptides containing proline or hydroxyproline at their C-terminal end. Mutations in PEPD gene cause, in human, prolidase deficiency (PD), a rare autosomal recessive disorder. PD patients show reduced or absent prolidase activity and a broad spectrum of phenotypic traits including various degrees of mental retardation. This is the first report correlating PD and brain damages using as a model system prolidase deficient mice, the so called dark-like (dal) mutant mice. We focused our attention on dal postnatal brain development, revealing a panel of different morphological defects in the cerebral and cerebellar cortices, such as undulations of the cerebral cortex, cell rarefaction, defects in cerebellar cortex lobulation, and blood vessels overgrowth. These anomalies might be ascribed to altered angiogenic process and loss of pial basement membrane integrity. Further studies will be directed to find a ...
UCSF researchers have successfully used protease inhibitors to restore to normal levels a key protein involved in early brain development. Reduced levels of that protein have been shown to cause the rare brain disorder lissencephaly, which is characterized by brain malformations, seizures, severe mental retardation and very early death in human infants.. The findings offer a proof-of-principle, at least in mice, that the genetic equivalent to human lissencephaly, also known as "smooth brain" disease, can be treated during pregnancy and effectively reversed to produce more normal offspring. Findings are reported in the September issue of "Nature Medicine.". While the progress is still in animal models, the work is significant in being the first successful attempt to use protease inhibitors to reverse a severe brain defect that is known to be caused by limited quantities of one key gene, the researchers say.. The hope is that this approach also could be used to treat other defects in utero, or ...
PERFECT FOR WEDDINGS: Ideal savers for outdoor weddings, parties, graduations or any other events. Dance or walk safely on soft or uneven surfaces. PREVENTS SINKING: Stops high heels from sinking into grass, gravel, cobblestone, grates, wooden decks, stone, sand or any other difficult surface. ANTI SLIP DESIGN: Discrete caps with beautiful design made of flexible and reinf3 SIZES AVAILABLE: Small (7 mm), Medium (9 mm) and Large (12 mm). Please check our sizing chart to select the right size for your shoes. 2, 3 or 10 pairs packs are available for your convenience.orced invisible rubber with glitter sparks will fit your high heels, stiletto or boots. HEEL GUARDS: Wide base stabilizes your heels without damaging your shoe tips. Walk in heels more stable and comfortable. Great gift for your bridesmaids and guests! SATISFACTION GUARANTEED: Lifetime warranty and world class customer support. ...
Friday, June 27. Recommended to visit on your own. Expo 29 tour: Opera House, Bullring, Torre del Oro, Triana Bridge and District, Macarena Basilica and walls, Parliament of Andalucia, Murillo Gardens. Plaza de España. Alcazar Royal Palace. Cathedral (Christopher Columbuss tomb). Jewish District and narrow cobblestone alleyways of the Barrio Santa Cruz (Sevilles old quarter). From Malaga, to Tangier (Spain), in Northern Africa http://gospain.about.com/od/transportation/qt/Malaga-To-Morocco.htm. From Granada à ...
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Cynomolgus Monkey Intestinal Mesenteric Vascular Endothelial Cells from Creative Bioarray display typical cobblestone with large dark nuclei appearance under light microscopy. Cells are tested for expression of endothelial cell marker using antibody CD31 (Catalog No. ab9498, Abcam), VE-cadherin Antibody (Catalog No. sc-28644, Santa Cruz), or VE-cadherin (Catalog No. ALX-210-232-C100, Enzo Life Sciences, Inc.) by immunofluorescence staining or FACS. Cells are negative for bacteria, yeast, fungi and mycoplasma. Cells can be expanded on a plate ready for experiments under the cell culture conditions specified by Creative Bioarray. Repeated freezing and thawing of cells is not recommended ...
Find Angel Feathers located at 11136 Cobblestone Ln, Grand Ledge, Michigan, 48837. Contact 5176271799. Ratings, reviews, hours, phone number and directions from ChamberofCommerce.com
Now I know why my parents didnt take us on many vacations! Hubby and I decided it would be fun to pack up and go on a mini vacation over the weekend to Savannah. A little rest and relaxation to do us some good! Boy were we wrong! To start with, for such a little girl Evelyn had a ton of luggage, an entire suitcase to herself, the bouncy chair, the pack and play crib and a big bag of toys. Mommy and daddy together had one small suitcase! Savannah is only 2 hours away so the drive itself was not bad at all however due to mommys excellent use of map quest we drove an extra 20 miles to find our hotel!!! The hotel was practically brand new so that made me happy (less germs!) and we had booked a suite so that there would be plenty of room for all of babys things. After settling in at the hotel we drove into downtown Savannah to have dinner. What we didnt realize was that there is alot of stairs and cobblestone streets to navigate. The stroller definitely was the wrong way to go! After dinner we ...
Elegantly framed within a scroll border, our Wayland Last Name Personalized Coco Door Mat graces your entryway with a durable welcome. Handwoven from naturally harvested coco fibers, this impressive mat features tough bristles of shredded husks to trap dirt and debris, while also absorbing moisture. Durable, 2-inch thick mat Place in a sheltered area View complete care instructionsDo not place in area where it will remain wet for long periods of time with no sunlight for dryingThe natural dyes can produce a brown stain that is difficult to remove from certain surfaces; using a rug pad is recommendedNot recommended for use on slate, granite, cobblestone, or limestone porches that have been chemically sealedImported Please note: Personalized items are nonreturnable.
With young black men used as bait, dogs were trained to track and pursue runaway slaves in the cobblestone courtyard of a Richmond slave jail. Hidden for more than a.... Read more ...
In this paper, a combined experimental, computational, and analytical approach is used to provide new insights into the lamination of organic solar cells and light emitting devices at macro- and micro-scales. First, the effects of applied lamination force (on contact between the laminated layers) are studied. The crack driving forces associated with the interfacial cracks (at the bi-material interfaces) are estimated along with the critical interfacial crack driving forces associated with the separation of thin films, after layer transfer. The conditions for successful lamination are predicted using a combination of experiments and computational models. Guidelines are developed for the lamination of low-cost organic electronic structures. ...
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POMT2 - POMT2 - Human, 4 unique 29mer shRNA constructs in retroviral untagged vector shRNA available for purchase from OriGene - Your Gene Company.
At least 24 mutations in the POMT1 gene have been found to cause Walker-Warburg syndrome, the most severe form of a group of disorders known as congenital muscular dystrophies. Individuals with Walker-Warburg syndrome have skeletal muscle weakness and abnormalities of the brain and eyes. Because of the severity of the problems caused by this condition, affected individuals usually do not survive past early childhood.. POMT1 gene mutations that cause Walker-Warburg syndrome lead to the formation of nonfunctional POMT enzyme complexes that cannot transfer mannose to α-dystroglycan, preventing its normal glycosylation. As a result, α-dystroglycan can no longer effectively anchor cells to the proteins and other molecules that surround them. Without functional α-dystroglycan to stabilize the muscle fibers, they become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, which affects the development, structure, and function of skeletal muscles in ...
Tonight is the best of the one day races - Paris Roubaix. 260km over the cobblestones of northern France. It is a really really great race (so much better than the Tour de France) and if you enjoy watching the Tour - you will love
Human Prostate Tumor-Associated Endothelial Cells from Creative Bioarray display typical cobblestone with large dark nuclei appearance under light microscopy. Cells are tested for expression of endothelial cell marker using antibody, CD31 (Catalog No. 550389, BD; CD31/PECAM-1 PE-conjugated Antibody, Catalog No. FAB3567P, R&D) or VE-Cadherin (FITC-VE-cadherin Catalog No. 560411, BD) by immunofluorescence staining or FACS. All cells test negative for mycoplasma, bacteria, yeast, and fungi. HIV-1, hepatitis B and hepatitis C are not detected for all donors and/or cell lots. Per request, a Certificate of Analysis will be provided for each cell lot purchased. Cells can be expanded for 3-5 passages under the cell culture conditions specified by Creative Bioarray. Repeated freezing and thawing of cells is not recommended ...
European Christmas Markets Discover Europes Christmas Markets, where the town center, market square or just the narrow, cobblestone streets of the cities and towns of Europe come alive in winter with festively decorated wooden stalls offering all sorts of treats and delights. Travel through Germany, France and Switzerland and visit cities and towns and learn of their history, see their major sights, and visit their charming markets. The Kingston Trio provides special folk arrangements of traditional Christmas carols to add to the magic and enchantment.G ...
European Christmas Markets Discover Europes Christmas Markets, where the town center, market square or just the narrow, cobblestone streets of the cities and towns of Europe come alive in winter with festively decorated wooden stalls offering all sorts of treats and delights. Travel through Germany, France and Switzerland and visit cities and towns and learn of their history, see their major sights, and visit their charming markets. The Kingston Trio provides special folk arrangements of traditional Christmas carols to add to the magic and enchantment.G ...
One of the greatest fears of traveling is the possibility you will become sick or injured while overseas and have to chart the waters of unfamiliar healthcare options in a language you dont speak. While an illness or an injury may occur I have found that caution and good old common sense are your best preventative measures. I was recently visiting friends overseas when an article came out in a weekly paper on How to Walk Around the City. Apparently members of the expat community (mainly the women) were breaking their arms and ankles while tooling around town. The uneven cobblestone streets here differ little from other parts of the world but this being a trendy, artsy town the ladies seemed to think their choice of shoes could include high heels. I guess vanity vanquishes sensibility.. Aside from this, there are some guidelines you should follow when you venture overseas.. ...
Make an entrance with an extra-thick, beautifully personalized Monaco Monogrammed Coco Door Mat. It woven to a 1-1/2 density, with thousands of natural coconut fibers to scrub shoes clean. Crafted from natural coconut fibers Great for high-traffic entries Printed with UV resistant, colorfast dyes Stenciled pattern resists fading Shake to clean Pattern varies by size Outdoor rug pad is recommended View complete care instructionsDo not place in area where it will remain wet for long periods of time with no sunlight for dryingThe natural dyes can produce a brown stain that is difficult to remove from certain surfaces; using a rug pad is recommendedNot recommended for use on slate, granite, cobblestone, or limestone porches that have been chemically sealed Please note: Personalized items are non-returnable.
Baby Luke was born with a rare brain malformation called polymicrogyria. He was diagnosed before he was even born, giving his family the opportunity to learn about the disorder, and be fully prepared to care for Luke after he arrived. Luke is cared for by a team of specialists with the Fetal Care Center.. ...
建设招标 山西招标网 大同招标 昆明市公安局交通警察支队"公安交通集成指挥平台(交警总队系统)" 公开招标公告 ... Read more ...
Previously, we reported o f clinical and electron-microscopical investigations in a case o f focal epithelial hyperplasia Heck. The patient was a 30-year-old, male Turk, who had numerous small papules in the oral mucosa persisting since childhood. He said that his mother had had similar lesions. The papules were located in the mucosa o f the cheek and of the lower lip. Most o f them were aggregated like cobblestones. In agreement with earlier results [2, 5] we were able to isolate typical papil lomavirusqike particles in the lesions [3].
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Some people love surprises, others dont, and then there are those like me that fall in between. Jared has been planning a surprise weekend getaway for our 5th wedding anniversary for over a month and Ive been extremely antsy! Dont get me wrong, I love the fact that he has been planning something special but I just couldnt take the fact of not knowing! So Jared met me in the middle. Each night for a week, I received clues. It actually became quite the event - I loved it! My mom flew in on Thursday to watch the kids over the weekend (thanks again mom!) and we were set to leave Friday morning. The day was finally here and we were off to one of my favorite places - DC! DC is awesome! Its a place mixed with culture, diversity, history, and beauty. We checked in at the Crown Plaza in downtown DC (thank you Greg for a wonderful anniversary gift!). We spent the rest of the afternoon getting pampered at an eclectic spa in the Georgetown district. This area is really neat - cobblestone streets, ...
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One of the oldest races in cycling, Paris-Roubaix started in 1896 and has been held every year, except during the two world wars. It earned one of its nicknames, the "Hell of the North," not because its so punishing, but because it passed through many of the terrific battlefields of World War I. The race no longer starts in Paris. In 1966, organizers moved the start from Paris to Chantilly, about 50km north. In 1977, the start was transferred to Compiègne, where it starts Sunday. The route ends in large, outdoor velodrome in Roubaix. The route varies from year to year as race organizers ASO search out new sections of cobbles or detour around other sectors under repair. This year, there are 27 sectors of cobblestones, totally 52.9km out of the 259km course. The first sector, number 27, is at Troisvilles at 98km. Sector 17 - the famous Trouée dArenberg - comes at 164km and proves to be one of the decisive moments of the race each year. Stijn Devolder will be trying to become the 10th rider in ...
The Rockies may crumble; Gibraltar may tumble, but one Beverly Hills hotel will not succumb to the water shortage. That is, not if a planned windmill works.. Conforming to water-saving laws passed because of the California drought, the Beverly Wilshire staff no longer waters sidewalks or drenches plants. Less ice is served in drinks at the hotels four bars. And no water is served - except on request - at tables.. But according to the hotel president, George White, there is plenty of water under the tables. Four levels under to be precise. White has asked engineers to construct a windmill above the elegant cobblestone court that separates the old hotel building from the new one.. The windmill, he thinks, will be a perfect way to keep his hotel abloom and afloat during the drought. Although it will not provide drinking water, the windmill will provide power to bring enough subsurface water topside to wash down sidewalks and water Beverly Wilshire plants.. "We have four parking levels under the ...
TY - JOUR. T1 - Functional analysis of an established mouse vascular endothelial cell line. AU - Nishiyama, Tatsuaki. AU - Mishima, Kenji. AU - Ide, Fumio. AU - Yamada, Koichi. AU - Obara, Kumi. AU - Sato, Aki. AU - Hitosugi, Noriko. AU - Inoue, Hiroko. AU - Tsubota, Kazuo. AU - Saito, Ichiro. PY - 2007/2/1. Y1 - 2007/2/1. N2 - Background: In vitrostudies using cell lines are useful for the understanding of cellular mechanisms. The purpose of our study is to develop a new immortalized aortic vascular endothelial cell (EC) line that retains endothelial characteristics and can facilitate the study of ECs. Methods: A mouse aortic vascular EC line (MAEC) was established from p53-deficient mouse aorta and cultured for over 100 passages. The expression of endothelial markers was assessed, and the function of this cell line was analyzed by tube formation and binding assays. Results: MAEC retained many endothelial properties such as cobblestone appearance, contact-inhibited growth, active uptake of ...
Formaldehyde Emission of Wood-Based Composite Panels with Different Surface Lamination Materials Using Desiccator Method - formaldehyde emission;wood-based composites;surface lamination;edge sealing;
An apparatus and related method for laminating a masking film onto a pre-press flexographic printing plate to place the plate in optical contact with the film by applying a balanced, non-distorting force to the flexographic printing plate and masking film. This method includes laminating the pre-press flexographic printing plate with the film mask by applying an optimized lamination force to achieve optical contact while minimizing lateral film distortion.
diabetes OR diabetic Exclude a word using the minus sign. Virchow -triad Use Parentheses. water AND (cup OR glass) Add an asterisk (*) at end of a word to include word stems. Neuro* will search for Neurology, Neuroscientist, Neurological, and so on Use quotes to search for an exact phrase. "primary prevention of cancer ...
The authors summarize the-state-of-the-art in ABS polymers with major sections on synthesis, characterization, mechanical properties, and stabilization.
Flexible plastic lamination is markable (write on/wipe off). Top corners have metal eyelets--hang from wall or from portable chart stand. Size 20x 27
Upper Airway Cough Syndrome (UACS). This includes all nasopharyngeal conditions (including allergic rhinitis (AR), rhinosinusitis, and laryngopharyngitis) that may be associated with post-nasal drip and subtle sensation of irritation of secretions in the back of the throat and the upper airways that present with a cough as the only symptom. Throat examination may reveal signs of pharyngitis and cobble-stone appearance. These conditions can be silent (no symptoms besides a cough) in up to 20% of cases. Because of disease chronicity, it is likely that, over time, patients will become tolerant of other symptoms, which are not as bothersome as a cough. The diagnosis of silent UACS can reliably be made only after patients show significant improvement with prescribed treatment directed to suggestive features in history, physical examination, or laboratory testing.[3]. Cough-Variant Asthma(C-VA). A cough can be the only manifestation of asthma. Unlike silent UACS, the diagnosis of C-VA can be confirmed ...
Panzer (German for Tank) Kaserne (German for Base) was the place where the Germans kept their tanks during World War II. Panzer Kaserne has kept its name from World War II days when it served as a tank base. It was constructed simultaneously with Patch and the two were joined by a cobblestone road specially designed to withstand the weight of tank traffic. There are still reminders of those days at Panzer. For instance, the mural in the officers club was painted in 1939. The wooded area behind the post is still used for training, as is the outdoor shooting range. Panzer also has an indoor firing range. Panzer Kaserne is located in Boeblingen, Germany and is part of the Stuttgart community. Boeblingen is located near Stuttgart, two hours from Munich. Its proximity to these two large cities allows Boeblingen educators to enjoy and appreciate their many cultural and recreational advantages. The surrounding countryside consists of rolling farmland, small villages, and beautiful forests. Panzer is ...
Sometimes a lump on a dog is just a lump. The lumps have fancy names, but it really doesnt matter to the dogs health or lifespan. Sometimes quirky problems can arise as a result of a lump…. Sammy grew lumps and bumps more than most Labrador-Beagle mixes. His black fur had faded grey over the years, but he still had his wag and loved to go for walks every morning.. Four years ago, Sammy suddenly grew a lump on the end of the left side of his nose, just above where the black leather cobblestone part of the nose began. Doc Truli diagnosed a mast cell tumor on the end of Sammys nose. As you know from reading VirtuaVet, mast cell tumors can be very, very nasty. Usually, the longer they stay on or in the body, the more they grow and metastasize, often killing the dog.. ...
Introduction Vernal keratoconjunctivitis (VKC) is a recurrent, bilateral, interstitial inflammation of the conjunctiva, resolving spontaneously after a course of several years and characterised by giant papillae (with a cobblestone appearance) on the tarsal conjunctiva, a discrete or confluent gelatinous hypertrophy of the limbal conjunctiva, and a distinct type of keratitis. It is associated with intense…
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Sasaki M, Yoshioka K, Yaganiwasa T, Nemoto A, Takasago Y, Takayuki N (1989) Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculomuscular syndrome. Childs Nerv Syst 5:35-37Google Scholar ...
MalaCards based summary : Kummells Disease, also known as traumatic spondylopathy, is related to osteonecrosis and spondylitis. An important gene associated with Kummells Disease is PPAN (Peter Pan Homolog), and among its related pathways/superpathways are Lissencephaly gene (LIS1) in neuronal migration and development and TNFs bind their physiological receptors. Affiliated tissues include bone, and related phenotypes are Decreased viability and Decreased viability ...
Multimaterial films account for around 7 million tons of the films produced, with around 95% of this going into packaging applications. These report outline usage and consumption of plastic films and PVC.
Iron oxide nanoparticles (IONPs) have been extensively studied in different biomedical fields. Recently, the non-cytotoxic concentration of IONPs induced cell-specific response raised concern of their safety. Endothelial cell exposure was unavoidable in their applications, while whether IONPs affect the phenotype of vascular endothelial cells is largely unknown. In this work, the effect of IONPs on endothelial-to-mesenchymal transition (EndMT) was investigated in vitro and in vivo. The incubation with γ-Fe2O3 nanoparticles modified with polyglucose sorbitol carboxymethyether (PSC-Fe2O3) at non-cytotoxic concentration induced morphological changes of human umbilical vein endothelial cells (HUVECs) from cobblestone-like to spindle mesenchymal-like morphology, while PSC-Fe2O3 mostly stay in the culture medium and intercellular space. At the same time, the endothelial marker CD31 and VE-cadherin was decreased along with the inhibitory of angiogenesis properties of HUVEC. Meanwhile, the mesenchymal marker
Dynamin, which is encoded by three genes in mammals, is a GTPase implicated in endocytic membrane fission. Dynamin 1 and 3 are predominantly expressed in brain, while dynamin 2 is ubiquitously expressed. With the goal of assessing the impact of the lack of dynamin on cell physiology, we previously generated and characterized dynamin 1 and 2 double KO (DKO) fibroblasts. These DKO cells were unexpectedly viable in spite of a severe impairment of clathrin-mediated endocytosis. As low-level expression of the dynamin 3 gene in these cells could not be excluded, we have now engineered dynamin 1, 2, and 3 triple KO (TKO) fibroblasts. These cells did not reveal any additional defects beyond what was previously observed in DKO fibroblasts. Surprisingly, while fluid phase endocytosis and peripheral membrane ruffling were not impaired by the lack of all three dynamins, two structurally similar, widely used dynamin inhibitors, dynasore and Dyngo-4a, robustly inhibited these two processes both in wild type ...

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... lissencephaly, which is characterized by a four-layer cerebral cortex, cobblestone lissencephaly is characterized by glial/ ... For this reason we examined long-term potentiation in Largemyd mice, a mouse model of cobblestone lissencephaly caused by ... Cobblestone (type II) lissencephaly and mental retardation are characteristic features of a subset of congenital muscular ... The genes linked to CMD-associated cobblestone lissencephaly encode known or putative glycosyltransferases, and muscle biopsies ...
more infohttp://www.jneurosci.org/content/30/43/14560

Bilateral frontoparietal polymicrogyria - WikipediaBilateral frontoparietal polymicrogyria - Wikipedia

... which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital ... In cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced ... Lissencephaly ("smooth brain") is the extreme form of pachygyria. In lissencephaly, few or no sulci are seen on the cortical ... However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, ...
more infohttps://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria

JoVE Author Search: Abdenur JEJoVE Author Search: Abdenur JE

Cobblestone Lissencephaly, Dystroglycan, Fukuyama Congenital Muscular Dystrophy, Gene, Glycosylation ... Cobblestone Lissencephaly, Dystroglycan, Fukuyama Congenital Muscular Dystrophy, Gene, Glycosylation. ...
more infohttp://labindex.jove.com/author/Abdenur-JE

Health information and publications in Africa African Index Medicus DatabaseHealth information and publications in Africa African Index Medicus Database

1 result(s) search for keyword(s) Cobblestone Lissencephaly Add the result to your basket Refine your search Generate the RSS ... Pericardial Effusion - etiology Pericardial Effusion - diagnosis Echocardiography Cobblestone Lissencephaly Pericardial ... Pericardial Effusion - etiology Pericardial Effusion - diagnosis Echocardiography Cobblestone Lissencephaly Pericardial ...
more infohttp://indexmedicus.afro.who.int/aim/opac_css/index.php?lvl=more_results&mode=keyword&user_query=Cobblestone+Lissencephaly&tags=ok

C0457133[DISCUI] - GTR - NCBIC0457133[DISCUI] - GTR - NCBI

Cobblestone Lissencephaly Panel. Genetic Services Laboratory University of Chicago. United States. 6. 17. *C Sequence analysis ...
more infohttps://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=C0457133%5BDISCUI%5D&methods=1%3A2

SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub, Nature Communications | 10.1038...SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub, Nature Communications | 10.1038...

Lach, B. & Arredondo, J. Cobblestone lissencephaly in Schinzel-Giedion (Thermo Fisher Scientific) were used: SKIDA1 (Hs01096520 ... Lach, B. & Arredondo, J. Cobblestone lissencephaly in Schinzel-Giedion (Thermo Fisher Scientific) were used: SKIDA1 (Hs01096520 ...
more infohttps://www.deepdyve.com/lp/springer_journal/setbp1-induces-transcription-of-a-network-of-development-genes-by-lJyPnJP0Ks

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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain 2012;135:469- ... GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010 ... such as tubulinopathies21 and cobblestone malformations22⇓-24; these have different histologic appearances but similar MR ...
more infohttp://www.ajnr.org/content/36/2/309

How is congenital muscular dystrophy (CMD) diagnosed prenatally?How is congenital muscular dystrophy (CMD) diagnosed prenatally?

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7. 91(6 ...
more infohttps://www.medscape.com/answers/1180214-189749/how-is-congenital-muscular-dystrophy-cmd-diagnosed-prenatally

Quentin S[au] - PubMed - NCBIQuentin S[au] - PubMed - NCBI

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Quentin+S%5Bau%5D&dispmax=50

Polymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full TextPolymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full Text

The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex ... In cobblestone lissencephaly the most severe cobblestone pathology is over the lateral aspects of the hemispheres, but the ... Cobblestone lissencephaly, the malformation in GPR56 and TUBA1A mutations as well as PMG tend to spare the base of the brain ... Unlike classical lissencephaly, in the cobblestone malformation the brainstem and cerebellar cortex, which depend on migration ...
more infohttps://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-014-0080-3

LARGE1 | MENDELIAN.COLARGE1 | MENDELIAN.CO

Cobblestone Lissencephaly Panel Panel. United States. By Genetic Services Laboratory University of Chicago Cobblestone ... Lissencephaly Panel Panel. United States. By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB ... Lissencephaly and related disorders NGS test Panel. United States. By Connective Tissue Gene Tests Lissencephaly and related ... Lissencephaly NGS Panel Panel. United States. By Fulgent Genetics Fulgent Genetics Lissencephaly NGS Panel that also includes ...
more infohttps://www.mendelian.co/genes/large1

FKTN | MENDELIAN.COFKTN | MENDELIAN.CO

Cobblestone Lissencephaly Panel Panel. United States. By Genetic Services Laboratory University of Chicago Cobblestone ... Lissencephaly Panel Panel. United States. By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB ... Lissencephaly and related disorders NGS test Panel. United States. By Connective Tissue Gene Tests Lissencephaly and related ... Lissencephaly NGS Panel Panel. United States. By Fulgent Genetics Fulgent Genetics Lissencephaly NGS Panel that also includes ...
more infohttps://www.mendelian.co/genes/fktn

β1 Integrins in Radial Glia But Not in Migrating Neurons Are Essential for the Formation of Cell Layers in the Cerebral Cortex ...β1 Integrins in Radial Glia But Not in Migrating Neurons Are Essential for the Formation of Cell Layers in the Cerebral Cortex ...

Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. ... A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly ...
more infohttp://www.jneurosci.org/content/27/50/13854.long

Congenital Muscular DystrophyCongenital Muscular Dystrophy

Brain MRI shows cobblestone lissencephaly with agyria and additional areas of macrogyria and polymicrogyria. The cortex is ... Brain MRI shows signs of cobblestone lissencephaly with pachygyria over the frontal, temporal, and parietal regions and ... and ranges from severe muscular dystrophy with cobblestone complex lissencephaly, eye involvement and an early fatal outcome, ... 28 Seizures also are frequent1 Brain MRI shows cobblestone lissencephaly with areas of polymicrogyria, macrogyria, and agyria, ...
more infohttps://www.healio.com/pediatrics/journals/pedann/2005-7-34-7/%7B5c411a6c-2fad-4e86-b987-2cead5b58aef%7D/congenital-muscular-dystrophy

Murat Gunel, MD, FACS, FAHA, FAANS > Yale Cancer Center | Yale School of...Murat Gunel, MD, FACS, FAHA, FAANS > Yale Cancer Center | Yale School of...

Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 3; 2016 Oct 20. PMID: 27773428 ...
more infohttp://yalecancercenter.org/research/people/murat_gunel-2.profile

ILK (integrin-linked kinase)ILK (integrin-linked kinase)

ILK deletion in the central nervous system leads to Cobblestone lissencephaly (Niewmierzycka et al., 2005) and to cerebellar ... Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. ...
more infohttp://atlasgeneticsoncology.org/Genes/GC_ILK.html

ILK (integrin-linked kinase)ILK (integrin-linked kinase)

ILK deletion in the central nervous system leads to Cobblestone lissencephaly (Niewmierzycka et al., 2005) and to cerebellar ... Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. ...
more infohttp://www.atlasgeneticsoncology.org/Genes/ILKID460ch11p15.html

Publications | Max Planck Institute for Biophysical ChemistryPublications | Max Planck Institute for Biophysical Chemistry

Yatsenko, A. S.; Marrone, A. K.; Shcherbata, H. R.: miRNA-based buffering of the cobblestone-lissencephaly-associated ...
more infohttps://www.mpibpc.mpg.de/publications?year=2014

CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | Journal of Neurology, Neurosurgery & PsychiatryCONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | Journal of Neurology, Neurosurgery & Psychiatry

Type II lissencephaly or Walker-Warburg syndrome. This is also called "cobblestone lissencephaly" and is a different ... Agyria-pachygyria (lissencephaly). There may be complete absence of gyri, in which case the terms agyria or lissencephaly ( ... Type I lissencephaly. Here the brain is small with only the primary and sometimes a few secondary gyri. The cortex is thick ... In type II lissencephaly the cerebral malformations may be associated with eye or muscle abnormalities so that a comprehensive ...
more infohttps://jnnp.bmj.com/content/74/suppl_1/i3

Anti-Fukutin/fktn antibody (ab171195)Anti-Fukutin/fktn antibody (ab171195)

... is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and ...
more infohttps://www.abcam.com/fukutin-antibody-ab171195.html

Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophyCharacteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy

The CNS lesions are generally characterized by cobblestone lissencephaly, in other words, type II lissencephaly or ...
more infohttp://pubmedcentralcanada.ca/pmcc/articles/PMC2859607/

Code System ConceptCode System Concept

Cobblestone lissencephaly without muscular or eye involvement Current Synonym true false 3766830012 Lissencephaly type 2 ... Cobblestone lissencephaly without muscular or ocular involvement (disorder). Code System Preferred Concept Name. Cobblestone ... Cobblestone lissencephaly without muscular or ocular involvement Current Synonym true false 3766829019 ... A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations ...
more infohttps://phinvads.cdc.gov/vads/ViewCodeSystemConcept.action?oid=2.16.840.1.113883.6.96&code=785299009
  • We describe an extremely rare association of lissencephaly with CMN without any NCM in a 2-year-old male child with refractory seizures and developmental delay. (ijpd.in)
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3): An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. (nih.gov)