Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
about
sameAs
Revisiting the Phylogeny of the Animal Formins: Two New Subtypes, Relationships with Multiple Wing Hairs Proteins, and a Lost Human ForminRemodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1.Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Increasing the reference populations for the 55 AISNP panel: the need and benefitsBiallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia.Formins: Actin nucleators that regulate cytoskeletal dynamics during spermatogenesisConstitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing lossLack of Diaph3 relaxes the spindle checkpoint causing the loss of neural progenitors.A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.The evolution of cortical development: the synapsid-diapsid divergence.Actin assembly mechanisms at a glance.Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication.
P2860
Q28598048-D51A4D31-F28A-49D5-AE8B-E579567346B7Q30366118-F6E60DE5-3892-4522-A8A8-10A8018DD645Q33436505-60D7EE1A-5A1C-4845-AA8F-991516690142Q33854592-2FE55A8A-8CBB-4716-ABCB-69FD191ED3A7Q34658044-350282C7-E7E0-4168-81DE-72A675F0E6E1Q35238551-B8B31D12-F70C-41B3-A2FE-4086B65F8EEBQ36088139-7EBBA012-58A1-4E0F-A689-5ABE5726DB5BQ37386996-808ABF69-8A11-477A-9010-AF55A56A3201Q39184383-24935911-434F-4FDB-B2E2-C3717C50BB20Q47225076-E37DA9D3-F250-4BA6-855A-F9C0E53BC051Q47595678-7EB55AB2-773B-43D4-9341-C9AEC450C341Q47612448-3746DF9F-E330-4DBE-952F-F4AC73E8033CQ52910100-26015F06-17DA-44F5-ABD2-CF8E78A16599Q55514066-31B140FC-AD8B-4CD2-8DF3-CAAC8E09EE25
P2860
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@ast
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@de
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en-gb
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@nl
type
label
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@ast
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@de
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en-gb
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@nl
prefLabel
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@ast
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@de
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en-gb
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@nl
P2093
P2860
P50
P3181
P356
P1476
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
@en
P2093
A Gulhan Ercan-Sencicek
Abha R Gupta
Arthur S Alberts
Daniel Franjic
Matthew W State
Michele H Johnson
Mingfeng Li
Mohnish Suri
Murat Gunel
Nenad Šestan
P2860
P2888
P304
P3181
P356
10.1038/EJHG.2014.82
P407
P577
2015-02-01T00:00:00Z
P5875
P6179
1019642551