Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome - Wikidata - wikimedia - TriplyDB

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

http://www.wikidata.org/entity/Q37203797

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Proteoglycan form and function: A comprehensive nomenclature of proteoglycans Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia Mutations in NYX of individuals with high myopia, but without night blindness Extracellular matrix molecules: potential targets in pharmacotherapy.Natural genetic variation caused by small insertions and deletions in the human genome Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.DNA sequence and comparative analysis of chimpanzee chromosome 22.Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane.Proteolytically Derived Endogenous Angioinhibitors Originating from the Extracellular Matrix Target-derived matricryptins organize cerebellar synapse formation through α3β1 integrins.Mutations in collagen 18A1 and their relevance to the human phenotype.Endostatin and endorepellin: A common route of action for similar angiostatic cancer avengers Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.Heparan sulfate proteoglycans: a GAGgle of skeletal-hematopoietic regulators.Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.ProNGF Drives Localized and Cell Selective Parvalbumin Interneuron and Perineuronal Net Depletion in the Dentate Gyrus of Transgenic Mice Endostatin overexpression specifically in the lens and skin leads to cataract and ultrastructural alterations in basement membranes.The nature and biology of basement membranes.Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.Endostatin is a trans-synaptic signal for homeostatic synaptic plasticity.A phenotypic variant of Knobloch syndrome.Endostatin phenylalanines 31 and 34 define a receptor binding site.COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.An extracellular proteasome releases endostatin from human collagen XVIII.How pathogenic is the p.D104N/endostatin polymorphic allele ofCOL18A1in Knobloch syndrome?

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Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

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2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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Molecular analysis of collagen ...... rogeneity in Knobloch syndrome

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Molecular analysis of collagen ...... ogeneity in Knobloch syndrome.

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Molecular analysis of collagen ...... rogeneity in Knobloch syndrome

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Molecular analysis of collagen ...... rogeneity in Knobloch syndrome

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American Journal of Human Genetics

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Molecular analysis of collagen ...... rogeneity in Knobloch syndrome

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P2093

Carpenter M

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Czeizel AE

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Der Kaloustian VM

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Kliemann SE

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Kok F

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Monteiro M

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Murray J

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Olsen BR

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Passos-Bueno MR

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Rosemberg S

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P2860

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

Endostatin: an endogenous inhibitor of angiogenesis and tumor growth

Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

A simple salting out procedure for extracting DNA from human nucleated cells

Lack of collagen XVIII/endostatin results in eye abnormalities

Mouse Col18a1 is expressed in a tissue-specific manner as three alternative variants and is localized in basement membrane zones

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

Knobloch syndrome involving midline scalp defect of the frontal region.

Structure, function and tissue forms of the C-terminal globular domain of collagen XVIII containing the angiogenesis inhibitor endostatin.

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