Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
about
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defectsSall2 is a novel p75NTR-interacting protein that links NGF signalling to cell cycle progression and neurite outgrowthMutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsMutation of SALL2 causes recessive ocular coloboma in humans and miceTranscriptional activation of the SALL1 by the human SIX1 homeodomain during kidney developmentMolecular analysis of SALL1 mutations in Townes-Brocks syndrome.VACTERL/VATER Associationp150(Sal2) is a p53-independent regulator of p21(WAF1/CIP)Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL familyOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologySALL3 interacts with DNMT3A and shows the ability to inhibit CpG island methylation in hepatocellular carcinomaMutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathyGene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transitionSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansLower urinary tract development and diseaseKidney regeneration: common themes from the embryo to the adultComparative analysis of 3D expression patterns of transcription factor genes and digit fate maps in the developing chick wingThe conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndromeMurine Sall1 represses transcription by recruiting a histone deacetylase complexSpalt-like 4 promotes posterior neural fates via repression of pou5f3 family members in XenopusA conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complexSALL4, the missing link between stem cells, development and cancerMouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domainsSall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activitiesSall1, sall2, and sall4 are required for neural tube closure in miceC-myc as a modulator of renal stem/progenitor cell populationSall3 is required for the terminal maturation of olfactory glomerular interneuronsZinc finger protein sall2 is not essential for embryonic and kidney developmentSall1 regulates embryonic stem cell differentiation in association with nanogAnorectal malformations caused by defects in sonic hedgehog signalingSall1 balances self-renewal and differentiation of renal progenitor cellsIn vivo enhancer analysis of human conserved non-coding sequencesThe genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of diseaseTowards a molecular understanding of Drosophila hearingDrosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes.Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformationsCharacterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selectionRole of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
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P2860
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@ast
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en-gb
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@nl
type
label
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@ast
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en-gb
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@nl
prefLabel
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@ast
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en-gb
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@nl
P2093
P3181
P356
P1433
P1476
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
@en
P2093
A Wischermann
H Reichenbach
J Kohlhase
P2888
P3181
P356
10.1038/NG0198-81
P407
P577
1998-01-01T00:00:00Z
P5875
P6179
1004157267