Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta - Wikidata - wikimedia - TriplyDB

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

http://www.wikidata.org/entity/Q24617020

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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Recent developments in osteogenesis imperfecta Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation New genes in bone development: what's new in osteogenesis imperfecta Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X Recognizing and treating secondary osteoporosis Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.Connective tissue alterations in Fkbp10-/- mice.Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.Current and emerging treatments for the management of osteogenesis imperfecta.Chaperoning osteogenesis: new protein-folding disease paradigms.A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.Changes in the chondrocyte and extracellular matrix proteome during post-natal mouse cartilage development.A scoring system for the assessment of clinical severity in osteogenesis imperfecta.Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations Osteogenesis Imperfecta: A Review with Clinical Examples.New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.Comparison of bone tissue properties in mouse models with collagenous and non-collagenous genetic mutations using FTIRI.Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.An unusual presentation of osteogenesis imperfecta type I Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.Biological role of prolyl 3-hydroxylation in type IV collagen.Molecular properties and fibril ultrastructure of types II and XI collagens in cartilage of mice expressing exclusively the α1(IIA) collagen isoform.New perspectives on osteogenesis imperfecta Tooth dentin defects reflect genetic disorders affecting bone mineralization.Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone.Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.Bilateral giant retinal tears in Osteogenesis Imperfecta.[Osteogenesis imperfecta].The development of a mature collagen network in cartilage from human bone marrow stem cells in Transwell culture.

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P2860

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

http://www.wikidata.org/entity/Q24617020

description

2010 nî lūn-bûn

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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2010 թվականի հունվարին 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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name

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@ast

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

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type

label

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@ast

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@en

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@nl

prefLabel

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@ast

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@en

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

@nl

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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

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Aileen M Barnes

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Joan C Marini

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Wayne A Cabral

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P2860

ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta

Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan

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

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

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

Genetic heterogeneity in osteogenesis imperfecta.

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

Determination of enzymatic catalysis for the cis-trans-isomerization of peptide binding in proline-containing peptides

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