Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
about
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaMutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresStructure of the Mediator head moduleFunctional interplay between Mediator and TFIIB in preinitiation complex assembly in relation to promoter architectureDisordered proteinaceous machinesMediator and human diseaseTranscriptional regulation and its misregulation in disease.The role of nuclear bodies in gene expression and disease.Mediator complex dependent regulation of cardiac development and disease.Redefining the MED13L syndromeDosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.Mediator links transcription and DNA repair by facilitating Rad2/XPG recruitmentMediator independently orchestrates multiple steps of preinitiation complex assembly in vivoCore Mediator structure at 3.4 Å extends model of transcription initiation complex.Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.Emerging functions of multi-protein complex Mediator with special emphasis on plants.Toward understanding of the mechanisms of Mediator function in vivo: Focus on the preinitiation complex assembly.MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.Transcription regulation by the Mediator complex.Array-CGH in children with mild intellectual disability: a population-based study.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.MED23-associated intellectual disability in a non-consanguineous family.
P2860
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P2860
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
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name
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@ast
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@en
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@nl
type
label
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@ast
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@en
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@nl
prefLabel
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@ast
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@en
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@nl
P2093
P2860
P50
P1476
Infantile cerebral and cerebel ...... reinitiation mediator complex.
@en
P2093
Adi Naamati
Aviva Mimouni-Bloch
Avraham Shaag
Bruria Ben-Zeev
Hanna Mandel
Orly Elpeleg
Osnat Konen
Rachel Straussberg
Rami Kaufmann
Shamir Zenvirt
P2860
P304
P356
10.1016/J.AJHG.2010.09.016
P407
P577
2010-10-14T00:00:00Z