Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
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Mutations in WNT1 cause different forms of bone fragilityMammalian tolloid proteinases: role in growth factor signallingWhat does procollagen C-endopeptidase enhancer protein 2 have to do with HDL-cholesteryl ester uptake? Or how I learned to stop worrying and love reverse cholesterol transport?Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfectaNew genes in bone development: what's new in osteogenesis imperfectaGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaDiagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseAdvances in Skeletal Dysplasia GeneticsWNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.An exclusively mesodermal origin of fin mesenchyme demonstrates that zebrafish trunk neural crest does not generate ectomesenchymeExtreme growth failure is a common presentation of ligase IV deficiency.Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.Intrinsically disordered proteins and biomineralization.Fish is Fish: the use of experimental model species to reveal causes of skeletal diversity in evolution and diseaseA mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.Bone Morphogenetic Protein (BMP) signaling in development and human diseasesNovel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian FamiliesRapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutationTwo novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case reportMutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.Basal keratinocytes contribute to all strata of the adult zebrafish epidermis.Digits and fin rays share common developmental histories.Featured Article: Transcriptional landscape analysis identifies differently expressed genes involved in follicle-stimulating hormone induced postmenopausal osteoporosisRecessive osteogenesis imperfecta: clinical, radiological, and molecular findings.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.A bone to pick with zebrafishPower and challenges of using zebrafish as a model for skeletal tissue imaging.Proteolytic control of TGF-β co-receptor activity by BMP-1/tolloid-like proteases revealed by quantitative iTRAQ proteomics.Osteogenic programs during zebrafish fin regeneration.Bone Material Properties in Osteogenesis Imperfecta.Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.De novo metatranscriptome assembly and coral gene expression profile of Montipora capitata with growth anomaly.MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system.Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.Hyperosteoidosis and hypermineralization in the same bone: bone tissue analyses in a boy with a homozygous BMP1 mutation.Early molecular assessment of osseointegration in humans.
P2860
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P2860
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@ast
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@en
type
label
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@ast
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@en
prefLabel
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@ast
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@en
P2093
P2860
P50
P1476
Attenuated BMP1 function compr ...... ility in humans and zebrafish.
@en
P2093
Bernd Wollnik
Carmen Sonntag
Christian Netzer
Eckhard Schönau
Esther Pohl
Holger Thiele
Janine Altmüller
Jutta Becker
Katharina Keupp
Katharina Zimmermann
P2860
P304
P356
10.1016/J.AJHG.2012.02.026
P407
P577
2012-04-01T00:00:00Z