A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaMolecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognitionHomozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfectaOsteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formationBone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfectaNew genes in bone development: what's new in osteogenesis imperfectaA missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage diseaseA Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night BlindnessA deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathyArray-based whole-genome survey of dog saliva DNA yields high quality SNP dataA novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIIAn unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattleGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaGenetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesIntracellular mechanisms of molecular recognition and sorting for transport of large extracellular matrix moleculesIdentification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle.Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies.A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.Chaperoning osteogenesis: new protein-folding disease paradigms.A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiationType V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeA scoring system for the assessment of clinical severity in osteogenesis imperfecta.Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assemblyMolecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.Osteogenesis Imperfecta: A Review with Clinical Examples.A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular DystrophyGenome-wide association studies for multiple diseases of the German Shepherd Dog.A canine BCAN microdeletion associated with episodic falling syndromeFaithful chaperones.New perspectives on osteogenesis imperfectaRecessive osteogenesis imperfecta: clinical, radiological, and molecular findings.IFITM5 mutations and osteogenesis imperfecta.Defective signaling, osteoblastogenesis and bone remodeling in a mouse model of connexin 43 C-terminal truncation.The pH-dependent Client Release from the Collagen-specific Chaperone HSP47 Is Triggered by a Tandem Histidine Pair.An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
P2860
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P2860
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@ast
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en-gb
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@nl
type
label
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@ast
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en-gb
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@nl
altLabel
A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
@en
prefLabel
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@ast
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en-gb
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@nl
P2093
P2860
P50
P1433
P1476
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
@en
P2093
Adrian Brunner
Bianca Haase
Frank Seeliger
Michael Fehr
Ulrich Baumann
P2860
P304
P356
10.1371/JOURNAL.PGEN.1000579
P407
P577
2009-07-01T00:00:00Z