LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma - Wikidata - awgldk - TriplyDB

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

http://www.wikidata.org/entity/Q28748251

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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils Human eye development is characterized by coordinated expression of fibrillin isoforms Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma Latent TGF-β-binding proteins A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)The ADAMTS(L) family and human genetic disorders Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.The clinical spectrum of complete FBN1 allele deletions.LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma.LTBP-2 Has a Single High-Affinity Binding Site for FGF-2 and Blocks FGF-2-Induced Cell Proliferation.A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome.Molecular pathogenesis and management strategies of ectopia lentis.TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs.Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development.Primary congenital and developmental glaucomas.Common Molecular Challenges in Glaucoma.LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.A Central Bioactive Region of LTBP-2 Stimulates the Expression of TGF-β1 in Fibroblasts via Akt and p38 Signalling Pathways.Clinical spectrum and surgical outcomes in spherophakia: a prospective interventional study.Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.Megalocornea associated with microduplications on chromosome 16.Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

http://www.wikidata.org/entity/Q28748251

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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European Journal of Human Genetics

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LTBP2 null mutations in an aut ...... phakia, and secondary glaucoma

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Fanny Depasse

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Françoise Meire

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Françoise Roulez

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Julie Désir

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Marc Abramowicz

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Marc Schrooyen

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Yves Sznajer

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P2860

Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1

The molecular genetics of Marfan syndrome and related disorders

LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein

Ectopia lentis phenotypes and the FBN1 gene

Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development

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