Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
about
A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattleGenomics of Rapid Incipient Speciation in Sympatric Threespine SticklebackThe genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research.Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion.Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass.HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.Genes and signaling networks regulated during zebrafish optic vesicle morphogenesisThe transcription factor Hmx1 and growth factor receptor activities control sympathetic neurons diversification.A dimerized HMX1 inhibits EPHA6/epha4b in mouse and zebrafish retinasMolecular characterization of mouse lens epithelial cell lines and their suitability to study RNA granules and cataract associated genesParent-of-origin effects in SOX2 anophthalmia syndromeUnderstanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndromeDeletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.Identification of HMX1 target genes: a predictive promoter model approach.A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complexMolecular analysis of FOXC1 in subjects presenting with severe developmental eye anomaliesHomozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.Syndromes of hearing loss associated with visual loss.The development of the mammalian outer and middle ear.Genetic Advances in the Understanding of Microtia.Genetic evidence for conserved non-coding element function across species-the ears have it.Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.Xenopus laevis Nkx5.3 and sensory organ homeobox (SOHo) are expressed in developing sensory organs and ganglia of the head and anterior trunk.
P2860
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P2860
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@ast
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@en
type
label
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@ast
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@en
prefLabel
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@ast
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@en
P2093
P2860
P1476
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
@en
P2093
Bahija Raji
Bozena Polok
Daniel F Schorderet
Francis L Munier
Gauillaume de la Houssaye
Gaëlle Boisset
Hélène Mayeur
Leila Tiab
Marc M Abitbol
Olivia Nichini
P2860
P304
P356
10.1016/J.AJHG.2008.03.007
P407
P577
2008-05-01T00:00:00Z