scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1004157267 |
P356 | DOI | 10.1038/NG0198-81 |
P3181 | OpenCitations bibliographic resource ID | 4258676 |
P698 | PubMed publication ID | 9425907 |
P5875 | ResearchGate publication ID | 13804225 |
P2093 | author name string | W Engel | |
J Kohlhase | |||
H Reichenbach | |||
U Froster | |||
A Wischermann | |||
P2860 | cites work | A 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 families | Q55670532 | ||
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome | Q55670535 | ||
Phenotypic variability in Townes-Brocks syndrome | Q71415184 | ||
BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning | Q71817916 | ||
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 embryo | Q26782010 | ||
Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt | Q28299972 | ||
A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye | Q28508005 | ||
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies | Q34227070 | ||
Post-translational processing and renal expression of mouse Indian hedgehog | Q36851317 | ||
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 syndrome | Q41660674 | ||
The mouse homolog of the region specific homeotic gene spalt of Drosophila is expressed in the developing nervous system and in mesoderm-derived structures | Q48064318 | ||
Xenopus Xsal-1, a vertebrate homolog of the region specific homeotic gene spalt of Drosophila | Q48065869 | ||
Hearing loss in Townes-Brocks syndrome. | Q50523580 | ||
Townes-Brocks syndrome in two mentally retarded youngsters. | Q50542149 | ||
Townes-Brocks syndrome associated with mental retardation. | Q52009870 | ||
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Townes-Brocks syndrome | Q385774 |
embryonic digit morphogenesis | Q14859953 | ||
Spalt like transcription factor 1 | Q21125156 | ||
P304 | page(s) | 81-3 | |
P577 | publication date | 1998-01-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome | |
P478 | volume | 18 |
Q38851585 | A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling |
Q38652474 | A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans |
Q90436766 | A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT) |
Q28290632 | A 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 |
Q47744942 | A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation |
Q28240842 | A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex |
Q42573165 | A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene |
Q28593584 | A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome |
Q43176038 | A mouse line expressing Sall1-driven inducible Cre recombinase in the kidney mesenchyme |
Q48377777 | A new member of the spalt like zinc finger protein family, Msal-3, is expressed in the CNS and sites of epithelial/mesenchymal interaction |
Q33588627 | A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells |
Q46982155 | A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2. |
Q96122083 | Analysis of FGF20-regulated genes in organ of Corti progenitors by translating ribosome affinity purification |
Q64929729 | Anephrogenic phenotype induced by SALL1 gene knockout in pigs. |
Q38434061 | Anorectal malformation: the etiological factors |
Q28594665 | Anorectal malformations caused by defects in sonic hedgehog signaling |
Q33518062 | Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes |
Q28513261 | C-myc as a modulator of renal stem/progenitor cell population |
Q31024355 | Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection |
Q85487057 | Clinical geneticists' views of VACTERL/VATER association |
Q52137252 | Cloning and expression of CSAL2, a new member of the spalt gene family in chick. |
Q27347751 | Comparative analysis of 3D expression patterns of transcription factor genes and digit fate maps in the developing chick wing |
Q39559342 | Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina |
Q38270948 | Congenital anomalies of the kidney and urinary tract: an embryogenetic review |
Q37838365 | Dedifferentiation and the role of sall4 in reprogramming and patterning during amphibian limb regeneration |
Q24302366 | Defining the heterochromatin localization and repression domains of SALL1 |
Q36741767 | Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. |
Q36359225 | Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation |
Q53087061 | Deletion upstream of SALL1 producing Townes-Brocks syndrome. |
Q33738624 | Development and Function of the Human Fetal Adrenal Cortex: A Key Component in the Feto-Placental Unit |
Q36597449 | Differential regulation of mouse and human nephron progenitors by the Six family of transcriptional regulators |
Q48544645 | Digital dialogues in Dundee: 8th International Conference on Limb Development |
Q33580141 | Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations. |
Q64441617 | Do short, frequent DNA sequence motifs mould the epigenome? |
Q45855710 | Does therapeutic angiogenesis overcome CKD? |
Q47072064 | Drosophila Sal and Salr are transcriptional repressors. |
Q30502018 | Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes |
Q24632196 | Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family |
Q33580134 | Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations. |
Q48846634 | Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome |
Q38013550 | Embryonic stem cell markers. |
Q54247811 | Epigenetic modification of SALL1 as a novel biomarker for the prognosis of early stage head and neck cancer. |
Q38050350 | Evolution of sound and balance perception: innovations that aggregate single hair cells into the ear and transform a gravistatic sensor into the organ of corti |
Q34508359 | Exploring the genetic basis of early-onset chronic kidney disease |
Q52051772 | Expression of Xenopus XlSALL4 during limb development and regeneration. |
Q47565311 | Expression of three spalt (sal) gene homologues in zebrafish embryos |
Q52578627 | Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease. |
Q36521431 | Expression profiles of human epididymis epithelial cells reveal the functional diversity of caput, corpus and cauda regions |
Q58759684 | Facultative dosage compensation of developmental genes on autosomes in Drosophila and mouse embryonic stem cells |
Q24685187 | Gene expression in Wilms' tumor mimics the earliest committed stage in the metanephric mesenchymal-epithelial transition |
Q51592780 | Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. |
Q33665891 | Genes involved in deafness |
Q38302647 | Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review |
Q36013624 | Genetic approaches to human renal agenesis/hypoplasia and dysplasia |
Q33906292 | Genetic disorders of the skeleton: a developmental approach |
Q33968487 | Genetic kidney diseases |
Q38731983 | Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. |
Q36658504 | Genetics of Vesicoureteral Reflux |
Q33739354 | Genetics of limb anomalies in humans |
Q39371197 | Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. |
Q90408584 | Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank |
Q34124043 | HOXA13 and HOXD13 expression during development of the syndactylous digits in the marsupial Macropus eugenii |
Q36036904 | Hearing in Drosophila: development of Johnston's organ and emerging parallels to vertebrate ear development. |
Q47411095 | Hearing loss and renal syndromes |
Q38235746 | Hearing molecules, mechanism and transportation: modeled in Drosophila melanogaster |
Q33561632 | Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome |
Q37132008 | Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome |
Q37353121 | Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb |
Q53218154 | Identification and characterization of Sall1-expressing cells present in the adult mouse kidney. |
Q33737079 | Identification of 5 novel genes methylated in breast and other epithelial cancers |
Q50689794 | Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo. |
Q30884341 | Identification of genes expressed during Xenopus laevis limb regeneration by using subtractive hybridization |
Q37330869 | Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis |
Q51890700 | Immunoexpression of SALL4 in Wilms tumors and developing kidney. |
Q29616554 | In vivo enhancer analysis of human conserved non-coding sequences |
Q38730255 | Induction of nephron progenitors and glomeruli from human pluripotent stem cells. |
Q28219276 | Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1 |
Q35588783 | Kidney development conserved over species: essential roles of Sall1. |
Q27013996 | Kidney regeneration: common themes from the embryo to the adult |
Q52008908 | Knockdown of spalt function by RNAi causes de-repression of Hox genes and homeotic transformations in the crustacean Artemia franciscana. |
Q96585148 | LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome |
Q36701407 | Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality |
Q27000375 | Lower urinary tract development and disease |
Q34021354 | Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. |
Q36706151 | Mi-2/NuRD is required in renal progenitor cells during embryonic kidney development |
Q24540095 | Molecular analysis of SALL1 mutations in Townes-Brocks syndrome |
Q28507141 | Mouse 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 |
Q37424520 | Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development |
Q28218138 | Murine Sall1 represses transcription by recruiting a histone deacetylase complex |
Q24319044 | Mutation of SALL2 causes recessive ocular coloboma in humans and mice |
Q52547883 | Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome. |
Q24676719 | Mutations 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 |
Q33692509 | Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract |
Q24316995 | Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations |
Q48247942 | Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population. |
Q37845211 | Nephron progenitors in the metanephric mesenchyme |
Q47731072 | Network-Based Coverage of Mutational Profiles Reveals Cancer Genes |
Q38089657 | Neuronal encoding of sound, gravity, and wind in the fruit fly. |
Q50100394 | Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract |
Q24655057 | Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology |
Q34569336 | Oligosyndactylism mice have an inversion of chromosome 8. |
Q43841647 | Oto-mandibular dysplasias: genetics and nomenclature of syndromes |
Q57908875 | Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) |
Q50437827 | Phenotypic variability in a family with Townes-Brocks syndrome |
Q36036909 | Photoreceptor differentiation in Drosophila: from immature neurons to functional photoreceptors |
Q93921147 | Preaxial polydactyly in an infant with Down's syndrome |
Q24302641 | Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study |
Q35150835 | Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs |
Q34388498 | Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways |
Q48009544 | Re-expression of Sall1 in podocytes protects against adriamycin-induced nephrosis |
Q37451569 | Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly |
Q47072573 | Regulation of R7 and R8 differentiation by the spalt genes |
Q38724083 | Renal dysplasia in the neonate |
Q61813059 | Replisome Dynamics and Their Functional Relevance upon DNA Damage through the PCNA Interactome |
Q33669015 | Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations |
Q33430628 | Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans |
Q34096518 | SALL1 mutations in Townes-Brocks syndrome and related disorders |
Q24657710 | SALL3 interacts with DNMT3A and shows the ability to inhibit CpG island methylation in hepatocellular carcinoma |
Q28266245 | SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders |
Q28273464 | SALL4, the missing link between stem cells, development and cancer |
Q87981875 | Sal-like 4 protein levels in breast cancer cells are post-translationally down-regulated by tripartite motif-containing 21 |
Q28509027 | Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities |
Q28592145 | Sall1 Regulates Embryonic Stem Cell Differentiation in Association with Nanog |
Q28594787 | Sall1 balances self-renewal and differentiation of renal progenitor cells |
Q43197529 | Sall1 in renal stromal progenitors non-cell autonomously restricts the excessive expansion of nephron progenitors |
Q34427626 | Sall1 maintains nephron progenitors and nascent nephrons by acting as both an activator and a repressor |
Q35921146 | Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome |
Q24294078 | Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin |
Q28512620 | Sall1, sall2, and sall4 are required for neural tube closure in mice |
Q24314686 | Sall2 is a novel p75NTR-interacting protein that links NGF signalling to cell cycle progression and neurite outgrowth |
Q28586318 | Sall3 is required for the terminal maturation of olfactory glomerular interneurons |
Q34795247 | Sall4 Is Transiently Expressed in the Caudal Wolffian Duct and the Ureteric Bud, but Dispensable for Kidney Development |
Q41285241 | Sall4 controls differentiation of pluripotent cells independently of the Nucleosome Remodelling and Deacetylation (NuRD) complex |
Q85802148 | Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias |
Q26862475 | Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans |
Q52115265 | Somatic mosaicism and variable expression of Townes-Brocks syndrome. |
Q39178653 | Sonic Hedgehog Signaling in Limb Development |
Q28237800 | Spalt-like 4 promotes posterior neural fates via repression of pou5f3 family members in Xenopus |
Q34056030 | Sumoylation modulates the activity of Spalt-like proteins during wing development in Drosophila |
Q30664085 | Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformations |
Q42824184 | The N termini of Friend of GATA (FOG) proteins define a novel transcriptional repression motif and a superfamily of transcriptional repressors |
Q35737381 | The Spalt Transcription Factors Generate the Transcriptional Landscape of the Drosophila melanogaster Wing Pouch Central Region |
Q41472998 | The awakening of the CDK10/Cyclin M protein kinase |
Q28217602 | The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome |
Q39000495 | The contribution of branching morphogenesis to kidney development and disease. |
Q35128232 | The genetic basis for skeletal diseases |
Q30434866 | The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease |
Q33834682 | The malformed kidney: disruption of glomerular and tubular development |
Q28302623 | The vertebrate spalt genes in development and disease |
Q30500469 | Towards a molecular understanding of Drosophila hearing |
Q33537397 | Townes-Brocks syndrome |
Q34322566 | Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene |
Q33639123 | Transcription factors in dysmorphology |
Q24323375 | Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development |
Q34682328 | Transcriptional and post-translational regulation of the quiescence factor and putative tumor suppressor p150(Sal2). |
Q50209849 | Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. |
Q24314493 | Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature |
Q46021860 | Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. |
Q24291520 | Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects |
Q38495235 | Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements |
Q24600367 | VACTERL/VATER Association |
Q30528302 | Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes. |
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Q47964657 | Xenopus 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 |
Q28589637 | Zinc finger protein sall2 is not essential for embryonic and kidney development |
Q42831881 | Zinc-finger transcriptional factor Sall1 induces angiogenesis by activation of the gene for VEGF-A. |
Q50481658 | [Hearing loss in Townes-Brocks syndrome] |
Q24623684 | p150(Sal2) is a p53-independent regulator of p21(WAF1/CIP) |
Q46312374 | sall1 and sall4 repress pou5f3 family expression to allow neural patterning, differentiation, and morphogenesis in Xenopus laevis |
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