Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
about
30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology.Post-Translational Modifications of the TAK1-TAB Complex.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.Inhibition of p70 S6 kinase activity by A77 1726 induces autophagy and enhances the degradation of superoxide dismutase 1 (SOD1) protein aggregates.A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.TAK1 restricts spontaneous NLRP3 activation and cell death to control myeloid proliferation.An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral FusionAn integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
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P2860
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
description
2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im August 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2016/08/04)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/08/04)
@nl
наукова стаття, опублікована в серпні 2016
@uk
مقالة علمية (نشرت في 4-8-2016)
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name
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
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Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@en
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
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type
label
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@ast
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@en
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@nl
prefLabel
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@ast
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@en
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@nl
P2093
P2860
P50
P1476
Mutations in MAP3K7 that Alter ...... se Frontometaphyseal Dysplasia
@en
P2093
Andrea Superti-Furga
Axel Bohring
Dagmar Wieczorek
Deborah Krakow
Elaine Fletcher
Emma M Wade
Erin Carter
Eva Morava
Hans-Christoph Duba
Irma Veenstra-Knol
P2860
P304
P356
10.1016/J.AJHG.2016.05.024
P407
P50
P577
2016-07-15T00:00:00Z