Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
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Bisphosphonate therapy for osteogenesis imperfectaA novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaMutations in WNT1 cause different forms of bone fragilityExome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaMutations in SERPINF1 cause osteogenesis imperfecta type VIRecent developments in 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 imperfectaStructure of human peptidyl-prolylcis-transisomerase FKBP22 containing two EF-hand motifsGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaNovel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patientsSystems genetic analysis of osteoblast-lineage cellsProlyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.Recent advances in osteogenesis imperfecta.Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasisConnective tissue alterations in Fkbp10-/- mice.Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossA mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.Prenatal transplantation of mesenchymal stem cells to treat osteogenesis imperfecta.First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.Bisphosphonate therapy for osteogenesis imperfecta.Chaperoning osteogenesis: new protein-folding disease paradigms.Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian FamiliesPhenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutationHSP47 and FKBP65 cooperate in the synthesis of type I procollagen.Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeA novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.Endoplasmic reticulum stress or mutation of an EF-hand Ca(2+)-binding domain directs the FKBP65 rotamase to an ERAD-based proteolysisIdentification of prolyl hydroxylation modifications in mammalian cell proteins.A 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 assembly
P2860
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P2860
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
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
@wuu
name
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@ast
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@en
type
label
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@ast
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@en
prefLabel
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@ast
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@en
P2093
P2860
P50
P1476
Mutations in the gene encoding ...... ssive osteogenesis imperfecta.
@en
P2093
Bernard Zabel
Brendan Lee
Cindy J R Curry
Daniel H Cohn
David R Eyre
Deborah Krakow
Diclehan Orhan
Dilek Aktas
Dustin Baldridge
Elaine C Davis
P2860
P304
P356
10.1016/J.AJHG.2010.02.022
P407
P577
2010-04-01T00:00:00Z