Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. - Wikidata - awgldk - TriplyDB

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

http://www.wikidata.org/entity/Q34595345

about

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta Bisphosphonate therapy for osteogenesis imperfecta Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta Prolyl 4-hydroxylase Mutations in SERPINF1 cause osteogenesis imperfecta type VI Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta Recent developments in osteogenesis imperfecta Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta New genes in bone development: what's new in osteogenesis imperfecta Genetic networks in osseointegration Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment Skeletal dysplasias Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia Severe osteogenesis imperfecta in cyclophilin B-deficient mice WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta.Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.Generalized connective tissue disease in Crtap-/- mouse.Procollagen triple helix assembly: an unconventional chaperone-assisted folding paradigm.Identification of differentially expressed genes in the growth plate of broiler chickens with thiram-induced tibial dyschondroplasia.Managing the patient with osteogenesis imperfecta: a multidisciplinary approach.Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly.CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations

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P2860

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

http://www.wikidata.org/entity/Q34595345

description

2006 nî lūn-bûn

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2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@ast

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@en

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@nl

type

label

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@ast

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@en

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@nl

prefLabel

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@ast

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@en

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@nl

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The New England Journal of Medicine

P1476

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

@en

P2093

Aarthi Ashok

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Aileen M Barnes

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Armando W Flor

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Brendan Lee

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David R Eyre

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Elena Makareeva

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Joan C Marini

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John J Mulvihill

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MaryAnn Weis

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Natalia Kuznetsova

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2757-2764

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scholarly article

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10.1056/NEJMOA063804

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26

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355

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2006-12-01T00:00:00Z

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17192541

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osteogenesis imperfecta