Generalized connective tissue disease in Crtap-/- mouse. - Wikidata - awgldk - TriplyDB

Generalized connective tissue disease in Crtap-/- mouse.

Generalized connective tissue disease in Crtap-/- mouse.

http://www.wikidata.org/entity/Q30982897

about

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta.Cyclophilin B interacts with sodium-potassium ATPase and is required for pump activity in proximal tubule cells of the kidney Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis Connective tissue alterations in Fkbp10-/- mice.Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta Extracellular purines promote the differentiation of human bone marrow-derived mesenchymal stem cells to the osteogenic and adipogenic lineages.Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.Molecular properties and fibril ultrastructure of types II and XI collagens in cartilage of mice expressing exclusively the α1(IIA) collagen isoform.Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?New perspectives on osteogenesis imperfecta Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.The collagen prolyl hydroxylases are novel transcriptionally silenced genes in lymphoma.Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.Genetic causes and mechanisms of Osteogenesis Imperfecta.Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.CRTAP mutation in a patient with Cole-Carpenter syndrome

P2860

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P2860

Generalized connective tissue disease in Crtap-/- mouse.

http://www.wikidata.org/entity/Q30982897

description

2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի մայիսին 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

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

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name

Generalized connective tissue disease in Crtap-/- mouse.

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Generalized connective tissue disease in Crtap-/- mouse.

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Generalized connective tissue disease in Crtap-/- mouse.

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Generalized connective tissue disease in Crtap-/- mouse.

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Generalized connective tissue disease in Crtap-/- mouse.

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Generalized connective tissue disease in Crtap-/- mouse.

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JOURNAL.PONE.0010560

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Generalized connective tissue disease in Crtap-/- mouse.

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Brendan Lee

http://www.w3.org/2001/XMLSchema#string

Daniel H Cohn

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David R Eyre

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Deborah Krakow

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Douglas R Keene

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Dustin Baldridge

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Elda Munivez

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Erica P Homan

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Jennifer Lennington

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MaryAnn Weis

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P2860

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

Type V collagen controls the initiation of collagen fibril assembly

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10.1371/JOURNAL.PONE.0010560

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connective tissue

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