A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.
about
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.Deficiency of transcription factor Brn4 disrupts cochlear gap junction plaques in a model of DFN3 non-syndromic deafness.Molecular and clinical studies of X-linked deafness among Pakistani families.Combining Hi-C data with phylogenetic correlation to predict the target genes of distal regulatory elements in human genome.Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysisLong-range control of gene expression: emerging mechanisms and disruption in disease.Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearingThe large Chinese family with Y-linked hearing loss revisited: clinical investigation.Current concepts of follicle-stimulating hormone receptor gene regulationGenome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Association of bone morphogenetic proteins with otosclerosis.Role of LET and chromatin structure on chromosomal inversion in CHO10B2 cells.Enhancer deregulation in cancer and other diseases.Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.Frequency and specific characteristics of the incomplete partition type III anomaly in children.Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.Role of various DNA repair pathways in chromosomal inversion formation in CHO mutants.A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.X-Linked Sensorineural Hearing Loss: A Literature Review
P2860
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P2860
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh
1995年學術文章
@zh-hant
name
A duplication/paracentric inve ...... b upstream of the POU3F4 gene.
@en
A duplication/paracentric inversion associated with familial X-linked deafness
@nl
type
label
A duplication/paracentric inve ...... b upstream of the POU3F4 gene.
@en
A duplication/paracentric inversion associated with familial X-linked deafness
@nl
prefLabel
A duplication/paracentric inve ...... b upstream of the POU3F4 gene.
@en
A duplication/paracentric inversion associated with familial X-linked deafness
@nl
P2093
P356
P1476
A duplication/paracentric inve ...... b upstream of the POU3F4 gene.
@en
P2093
Cremers FP
van der Maarel SM
P304
P356
10.1093/HMG/4.11.2145
P577
1995-11-01T00:00:00Z