Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
about
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.An RRM-ZnF RNA recognition module targets RBM10 to exonic sequences to promote exon exclusionInsight into the role of alternative splicing within the RBM10v1 exon 10 tandem donor site.Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.Functional analysis reveals that RBM10 mutations contribute to lung adenocarcinoma pathogenesis by deregulating splicingThe RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development.Autoregulation of RBM10 and cross-regulation of RBM10/RBM5 via alternative splicing-coupled nonsense-mediated decay.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
P2860
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P2860
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
description
2013 nî lūn-bûn
@nan
2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
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2013年學術文章
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name
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@en
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@nl
type
label
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@en
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@nl
prefLabel
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@en
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@nl
P2093
P2860
P50
P356
P1476
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
@en
P2093
Cynthia Curry
Jennifer J Johnston
Julie C Sapp
Kristina Cusmano-Ozog
Louanne Hudgins
Margaret Horton
P2860
P304
P356
10.1002/AJMG.A.36212
P407
P577
2013-11-20T00:00:00Z