Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
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Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Clinical application of exome sequencing in undiagnosed genetic conditionsTGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and diseaseADAMTS proteins as modulators of microfibril formation and functionNovel SMAD4 mutation causing Myhre syndromeAdvances in Skeletal Dysplasia GeneticsTTC7A mutations disrupt intestinal epithelial apicobasal polarity.MicroRNA-26b inhibits epithelial-mesenchymal transition in hepatocellular carcinoma by targeting USP9X.Myhre and LAPS syndromes: clinical and molecular review of 32 patients.The promise of whole-exome sequencing in medical genetics.Bone Morphogenetic Protein (BMP) signaling in development and human diseasesSMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.Two sides of the story? Smad4 loss in pancreatic cancer versus head-and-neck cancerPfSMAD4 plays a role in biomineralization and can transduce bone morphogenetic protein-2 signals in the pearl oyster Pinctada fucata.In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysmSmad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration.SMAD3 and SMAD4 have a more dominant role than SMAD2 in TGFβ-induced chondrogenic differentiation of bone marrow-derived mesenchymal stem cells.SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanSmad4 regulates growth plate matrix production and chondrocyte polarity.From tall to short: the role of TGFβ signaling in growth and its disorders.Inferring causality and functional significance of human coding DNA variants.Genetic biomarkers in aortopathy.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Myhre syndrome.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Chondrodysplasias and TGFβ signaling.BMP signalling in skeletal development, disease and repair.Natural history and life-threatening complications in Myhre syndrome and review of the literature.Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Dullard/Ctdnep1 regulates endochondral ossification via suppression of TGF-β signaling.Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.Identification of C12orf4 as a gene for autosomal recessive intellectual disability.SMAD4 Defect Causes Auditory Neuropathy Via Specialized Disruption of Cochlear Ribbon Synapses in Mice.Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.The role of TGF-β/SMAD4 signaling in cancer.A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
P2860
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P2860
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
description
2011 nî lūn-bûn
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2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@ast
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@en
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@nl
type
label
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@ast
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@en
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@nl
prefLabel
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@ast
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@en
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
@en
P2093
Alexandra Afenjar
Anne Destrée
Avinash Abhyankar
Clémentine Mahaut
Delphine Héron
John Tolmie
Maja di Rocco
Marleen Simon
Sandrine Marlin
Sébastien Jacquemont
P2860
P2888
P356
10.1038/NG.1016
P407
P50
P577
2011-12-11T00:00:00Z