A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis - Wikidata - wikimedia - TriplyDB

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

http://www.wikidata.org/entity/Q33823848

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Genetics of hearing and deafness Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.Inner ear proteomics of mouse models for deafness, a discovery strategy.Reducing the effects of intracellular accumulation of thermolabile collagen II mutants by increasing their thermostability in cell culture conditions.Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse.Mutation discovery in mice by whole exome sequencing.Biomechanical evaluation of human and porcine auricular cartilage.Multigenic Delineation of Lower Jaw Deformity in Triploid Atlantic Salmon (Salmo salar L.).Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.Mouse resources for craniofacial research.Msx2 exerts bone anabolism via canonical Wnt signaling.R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response.Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model Extracellular matrix and developing growth plate.Fell Muir Lecture: Collagen fibril formation in vitro and in vivo.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Mouse models of ocular diseases.A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.Correlating changes in collagen secondary structure with aging and defective type II collagen by Raman spectroscopy.A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation

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P2860

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

http://www.wikidata.org/entity/Q33823848

description

2003 nî lūn-bûn

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2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

A missense mutation in the mou ...... earing loss, and retinoschisis

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A missense mutation in the mou ...... earing loss, and retinoschisis

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A missense mutation in the mou ...... earing loss, and retinoschisis

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A missense mutation in the mou ...... earing loss, and retinoschisis

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A missense mutation in the mou ...... earing loss, and retinoschisis

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Journal of Bone and Mineral Research

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A missense mutation in the mou ...... earing loss, and retinoschisis

@en

P2093

Bo Chang

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Clifford J Rosen

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David J Baylink

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Jon E Wergedal

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Kenneth R Johnson

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Leah Rae Donahue

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Muriel T Davisson

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Nao Miyakoshi

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Norman L Hawes

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Patricia Ward-Bailey

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P2860

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1

Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone

Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen

Pulmonary hypoplasia associated with reduced thoracic space in mice with disproportionate micromelia (DMM)

Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses.

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints

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spondyloepiphyseal dysplasia congenita

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