Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1004157267
P356DOI10.1038/NG0198-81
P3181OpenCitations bibliographic resource ID4258676
P698PubMed publication ID9425907
P5875ResearchGate publication ID13804225

P2093author name stringW Engel
J Kohlhase
H Reichenbach
U Froster
A Wischermann
P2860cites workA gene complex acting downstream of dpp in Drosophila wing morphogenesis.Q52201469
Two distinct mechanisms for long-range patterning by Decapentaplegic in the Drosophila wing.Q52201470
Direct and long-range action of a DPP morphogen gradient.Q52201537
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome familiesQ55670532
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndromeQ55670535
Phenotypic variability in Townes-Brocks syndromeQ71415184
BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterningQ71817916
spalt encodes an evolutionarily conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryoQ26782010
Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spaltQ28299972
A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eyeQ28508005
Hereditary syndrome of imperforate anus with hand, foot, and ear anomaliesQ34227070
Post-translational processing and renal expression of mouse Indian hedgehogQ36851317
Head and tail development of the Drosophila embryo involves spalt, a novel homeotic gene.Q41090703
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndromeQ41660674
The mouse homolog of the region specific homeotic gene spalt of Drosophila is expressed in the developing nervous system and in mesoderm-derived structuresQ48064318
Xenopus Xsal-1, a vertebrate homolog of the region specific homeotic gene spalt of DrosophilaQ48065869
Hearing loss in Townes-Brocks syndrome.Q50523580
Townes-Brocks syndrome in two mentally retarded youngsters.Q50542149
Townes-Brocks syndrome associated with mental retardation.Q52009870
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectTownes-Brocks syndromeQ385774
embryonic digit morphogenesisQ14859953
Spalt like transcription factor 1Q21125156
P304page(s)81-3
P577publication date1998-01-01
P1433published inNature GeneticsQ976454
P1476titleMutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
P478volume18

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cites work (P2860)
Q38851585A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
Q38652474A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans
Q90436766A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT)
Q28290632A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome
Q47744942A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation
Q28240842A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex
Q42573165A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Q28593584A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome
Q43176038A mouse line expressing Sall1-driven inducible Cre recombinase in the kidney mesenchyme
Q48377777A new member of the spalt like zinc finger protein family, Msal-3, is expressed in the CNS and sites of epithelial/mesenchymal interaction
Q33588627A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells
Q46982155A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2.
Q96122083Analysis of FGF20-regulated genes in organ of Corti progenitors by translating ribosome affinity purification
Q64929729Anephrogenic phenotype induced by SALL1 gene knockout in pigs.
Q38434061Anorectal malformation: the etiological factors
Q28594665Anorectal malformations caused by defects in sonic hedgehog signaling
Q33518062Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
Q28513261C-myc as a modulator of renal stem/progenitor cell population
Q31024355Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection
Q85487057Clinical geneticists' views of VACTERL/VATER association
Q52137252Cloning and expression of CSAL2, a new member of the spalt gene family in chick.
Q27347751Comparative analysis of 3D expression patterns of transcription factor genes and digit fate maps in the developing chick wing
Q39559342Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina
Q38270948Congenital anomalies of the kidney and urinary tract: an embryogenetic review
Q37838365Dedifferentiation and the role of sall4 in reprogramming and patterning during amphibian limb regeneration
Q24302366Defining the heterochromatin localization and repression domains of SALL1
Q36741767Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.
Q36359225Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation
Q53087061Deletion upstream of SALL1 producing Townes-Brocks syndrome.
Q33738624Development and Function of the Human Fetal Adrenal Cortex: A Key Component in the Feto-Placental Unit
Q36597449Differential regulation of mouse and human nephron progenitors by the Six family of transcriptional regulators
Q48544645Digital dialogues in Dundee: 8th International Conference on Limb Development
Q33580141Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations.
Q64441617Do short, frequent DNA sequence motifs mould the epigenome?
Q45855710Does therapeutic angiogenesis overcome CKD?
Q47072064Drosophila Sal and Salr are transcriptional repressors.
Q30502018Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes
Q24632196Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
Q33580134Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations.
Q48846634Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome
Q38013550Embryonic stem cell markers.
Q54247811Epigenetic modification of SALL1 as a novel biomarker for the prognosis of early stage head and neck cancer.
Q38050350Evolution of sound and balance perception: innovations that aggregate single hair cells into the ear and transform a gravistatic sensor into the organ of corti
Q34508359Exploring the genetic basis of early-onset chronic kidney disease
Q52051772Expression of Xenopus XlSALL4 during limb development and regeneration.
Q47565311Expression of three spalt (sal) gene homologues in zebrafish embryos
Q52578627Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease.
Q36521431Expression profiles of human epididymis epithelial cells reveal the functional diversity of caput, corpus and cauda regions
Q58759684Facultative dosage compensation of developmental genes on autosomes in Drosophila and mouse embryonic stem cells
Q24685187Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition
Q51592780Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Q33665891Genes involved in deafness
Q38302647Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review
Q36013624Genetic approaches to human renal agenesis/hypoplasia and dysplasia
Q33906292Genetic disorders of the skeleton: a developmental approach
Q33968487Genetic kidney diseases
Q38731983Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
Q36658504Genetics of Vesicoureteral Reflux
Q33739354Genetics of limb anomalies in humans
Q39371197Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.
Q90408584Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank
Q34124043HOXA13 and HOXD13 expression during development of the syndactylous digits in the marsupial Macropus eugenii
Q36036904Hearing in Drosophila: development of Johnston's organ and emerging parallels to vertebrate ear development.
Q47411095Hearing loss and renal syndromes
Q38235746Hearing molecules, mechanism and transportation: modeled in Drosophila melanogaster
Q33561632Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome
Q37132008Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome
Q37353121Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb
Q53218154Identification and characterization of Sall1-expressing cells present in the adult mouse kidney.
Q33737079Identification of 5 novel genes methylated in breast and other epithelial cancers
Q50689794Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo.
Q30884341Identification of genes expressed during Xenopus laevis limb regeneration by using subtractive hybridization
Q37330869Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
Q51890700Immunoexpression of SALL4 in Wilms tumors and developing kidney.
Q29616554In vivo enhancer analysis of human conserved non-coding sequences
Q38730255Induction of nephron progenitors and glomeruli from human pluripotent stem cells.
Q28219276Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1
Q35588783Kidney development conserved over species: essential roles of Sall1.
Q27013996Kidney regeneration: common themes from the embryo to the adult
Q52008908Knockdown of spalt function by RNAi causes de-repression of Hox genes and homeotic transformations in the crustacean Artemia franciscana.
Q96585148LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome
Q36701407Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality
Q27000375Lower urinary tract development and disease
Q34021354Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.
Q36706151Mi-2/NuRD is required in renal progenitor cells during embryonic kidney development
Q24540095Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
Q28507141Mouse 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 domains
Q37424520Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development
Q28218138Murine Sall1 represses transcription by recruiting a histone deacetylase complex
Q24319044Mutation of SALL2 causes recessive ocular coloboma in humans and mice
Q52547883Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome.
Q24676719Mutations 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 embryopathy
Q33692509Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Q24316995Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Q48247942Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.
Q37845211Nephron progenitors in the metanephric mesenchyme
Q47731072Network-Based Coverage of Mutational Profiles Reveals Cancer Genes
Q38089657Neuronal encoding of sound, gravity, and wind in the fruit fly.
Q50100394Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract
Q24655057Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
Q34569336Oligosyndactylism mice have an inversion of chromosome 8.
Q43841647Oto-mandibular dysplasias: genetics and nomenclature of syndromes
Q57908875Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Q50437827Phenotypic variability in a family with Townes-Brocks syndrome
Q36036909Photoreceptor differentiation in Drosophila: from immature neurons to functional photoreceptors
Q93921147Preaxial polydactyly in an infant with Down's syndrome
Q24302641Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study
Q35150835Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs
Q34388498Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
Q48009544Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis
Q37451569Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly
Q47072573Regulation of R7 and R8 differentiation by the spalt genes
Q38724083Renal dysplasia in the neonate
Q61813059Replisome Dynamics and Their Functional Relevance upon DNA Damage through the PCNA Interactome
Q33669015Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
Q33430628Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans
Q34096518SALL1 mutations in Townes-Brocks syndrome and related disorders
Q24657710SALL3 interacts with DNMT3A and shows the ability to inhibit CpG island methylation in hepatocellular carcinoma
Q28266245SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
Q28273464SALL4, the missing link between stem cells, development and cancer
Q87981875Sal-like 4 protein levels in breast cancer cells are post-translationally down-regulated by tripartite motif-containing 21
Q28509027Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities
Q28592145Sall1 Regulates Embryonic Stem Cell Differentiation in Association with Nanog
Q28594787Sall1 balances self-renewal and differentiation of renal progenitor cells
Q43197529Sall1 in renal stromal progenitors non-cell autonomously restricts the excessive expansion of nephron progenitors
Q34427626Sall1 maintains nephron progenitors and nascent nephrons by acting as both an activator and a repressor
Q35921146Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome
Q24294078Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin
Q28512620Sall1, sall2, and sall4 are required for neural tube closure in mice
Q24314686Sall2 is a novel p75NTR-interacting protein that links NGF signalling to cell cycle progression and neurite outgrowth
Q28586318Sall3 is required for the terminal maturation of olfactory glomerular interneurons
Q34795247Sall4 Is Transiently Expressed in the Caudal Wolffian Duct and the Ureteric Bud, but Dispensable for Kidney Development
Q41285241Sall4 controls differentiation of pluripotent cells independently of the Nucleosome Remodelling and Deacetylation (NuRD) complex
Q85802148Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
Q26862475Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
Q52115265Somatic mosaicism and variable expression of Townes-Brocks syndrome.
Q39178653Sonic Hedgehog Signaling in Limb Development
Q28237800Spalt-like 4 promotes posterior neural fates via repression of pou5f3 family members in Xenopus
Q34056030Sumoylation modulates the activity of Spalt-like proteins during wing development in Drosophila
Q30664085Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformations
Q42824184The N termini of Friend of GATA (FOG) proteins define a novel transcriptional repression motif and a superfamily of transcriptional repressors
Q35737381The Spalt Transcription Factors Generate the Transcriptional Landscape of the Drosophila melanogaster Wing Pouch Central Region
Q41472998The awakening of the CDK10/Cyclin M protein kinase
Q28217602The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome
Q39000495The contribution of branching morphogenesis to kidney development and disease.
Q35128232The genetic basis for skeletal diseases
Q30434866The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease
Q33834682The malformed kidney: disruption of glomerular and tubular development
Q28302623The vertebrate spalt genes in development and disease
Q30500469Towards a molecular understanding of Drosophila hearing
Q33537397Townes-Brocks syndrome
Q34322566Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene
Q33639123Transcription factors in dysmorphology
Q24323375Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development
Q34682328Transcriptional and post-translational regulation of the quiescence factor and putative tumor suppressor p150(Sal2).
Q50209849Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
Q24314493Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature
Q46021860Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Q24291520Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects
Q38495235Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements
Q24600367VACTERL/VATER Association
Q30528302Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes.
Q52109110Why study human limb malformations?
Q47964657Xenopus Pax-2/5/8 orthologues: novel insights into Pax gene evolution and identification of Pax-8 as the earliest marker for otic and pronephric cell lineages
Q28589637Zinc finger protein sall2 is not essential for embryonic and kidney development
Q42831881Zinc-finger transcriptional factor Sall1 induces angiogenesis by activation of the gene for VEGF-A.
Q50481658[Hearing loss in Townes-Brocks syndrome]
Q24623684p150(Sal2) is a p53-independent regulator of p21(WAF1/CIP)
Q46312374sall1 and sall4 repress pou5f3 family expression to allow neural patterning, differentiation, and morphogenesis in Xenopus laevis

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