Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
about
Nonsense-mediated mRNA decay: inter-individual variability and human diseaseRecurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaCutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolismModeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoformsClinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Elevated transforming growth factor β1 in plasma of primary open-angle glaucoma patientsFibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.Arterial tortuosity syndrome: 40 new families and literature review.Dysregulated fibulin-5 expression and elastogenesis in COPD lungs: pyromaniac or fire fighter?Extracellular matrix in lung development, homeostasis and disease.Role of LTBP4 in alveolarization, angiogenesis, and fibrosis in lungs.A large lung gene expression study identifying fibulin-5 as a novel player in tissue repair in COPD.Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
P2860
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P2860
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
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
name
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@ast
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@en
type
label
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@ast
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@en
prefLabel
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@ast
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@en
P2093
P2860
P50
P356
P1433
P1476
Comprehensive clinical and mol ...... th type 1 recessive cutis laxa
@en
P2093
Aicha Salhi
Bianca Schulz
Chi-Ting Su
Elaine C Davis
Gérald E Piérard
Harald Gaspar
Jean-Luc Bresson
Joseph G H Lee
Katrina Prescott
Maria E Gosendi
P2860
P304
P356
10.1002/HUMU.22165
P50
P577
2012-08-13T00:00:00Z