| scholarly article | Q13442814 |
| P50 | author | Stanislas Lyonnet | Q7598948 |
| Michael Wegner | Q37380492 | ||
| Veronique Pingault | Q42877586 | ||
| Isabella Ceccherini | Q54441088 | ||
| Gert Matthijs | Q87778355 | ||
| P2093 | author name string | E Legius | |
| J C Smith | |||
| G Romeo | |||
| A P Read | |||
| J Amiel | |||
| M Goossens | |||
| A Puliti | |||
| I Hermans-Borgmeyer | |||
| K Kuhlbrodt | |||
| N Bondurand | |||
| B Herbarth | |||
| D E Goerich | |||
| M O Préhu | |||
| P2860 | cites work | Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) | Q24311237 |
| A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease | Q24311512 | ||
| Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model | Q24319465 | ||
| Waardenburg syndrome | Q24517935 | ||
| Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex | Q27730262 | ||
| Structure of the HMG box motif in the B-domain of HMG1 | Q27732133 | ||
| Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene | Q28181722 | ||
| An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome | Q28181736 | ||
| Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons | Q28243225 | ||
| Solution structure of the sequence-specific HMG box of the lymphocyte transcriptional activator Sox-4 | Q28271290 | ||
| A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) | Q28278792 | ||
| Sox10, a novel transcriptional modulator in glial cells | Q28582624 | ||
| Association of megacolon with a new dominant spotting gene (Dom) in the mouse | Q28586637 | ||
| Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice | Q34328245 | ||
| Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease | Q48056092 | ||
| Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. | Q50522919 | ||
| Quantitative trait loci that modify the severity of spotting in piebald mice. | Q52206708 | ||
| The association of Waardenburg syndrome and Hirschsprung megacolon | Q57268200 | ||
| Human haploinsufficiency — one for sorrow, two for joy | Q57813416 | ||
| Phenotypic diversity, allelic series and modifier genes | Q58588355 | ||
| Abnormal Microenvironmental Signals Underlie Intestinal Aganglionosis inDominant megacolonMutant Mice | Q63979806 | ||
| Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis | Q69259804 | ||
| Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease | Q71323927 | ||
| Waardenburg and Hirschsprung syndromes | Q71711273 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 171-3 | |
| P577 | publication date | 1998-02-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | SOX10 mutations in patients with Waardenburg-Hirschsprung disease | |
| P478 | volume | 18 |
| Q28657851 | 2013 William Allan Award: My multifactorial journey |
| Q52780471 | 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. |
| Q54608231 | A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease. |
| Q43076468 | A Hirschsprung disease locus at 22q11? |
| Q28473562 | A Sox10 expression screen identifies an amino acid essential for Erbb3 function |
| Q35561874 | A Sox10(rtTA/+) Mouse Line Allows for Inducible Gene Expression in the Auditory and Balance Organs of the Inner Ear. |
| Q34286431 | A curated online resource for SOX10 and pigment cell molecular genetic pathways |
| Q37609548 | A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4. |
| Q34355050 | A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma |
| Q28254773 | A genetic screen identifies genes essential for development of myelinated axons in zebrafish |
| Q37149716 | A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. |
| Q22008702 | A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction |
| Q28141732 | A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies |
| Q57281718 | A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3 |
| Q101632221 | A nonsense mutation in TFEC is the likely cause of the recessive piebald phenotype in ball pythons (Python regius) |
| Q48959620 | A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis |
| Q100751426 | A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome |
| Q90158813 | A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease |
| Q36574109 | A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. |
| Q35204402 | A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome |
| Q43169412 | A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. |
| Q36029243 | A phenotype-driven ENU mutagenesis screen identifies novel alleles with functional roles in early mouse craniofacial development |
| Q34412203 | A promoter-level mammalian expression atlas |
| Q28590547 | A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy |
| Q30485384 | A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle |
| Q28206828 | ABCD syndrome is caused by a homozygous mutation in the EDNRB gene |
| Q28504812 | Adult-onset degeneration of adipose tissue in mice deficient for the Sox8 transcription factor |
| Q38027815 | Advances in molecular genetics of Hirschsprung's disease |
| Q57829795 | An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease |
| Q47948567 | An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness |
| Q33379291 | An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10. |
| Q35363393 | Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. |
| Q74837223 | Animal models for dysmorphology |
| Q35023613 | Antagonistic cross-regulation between Sox9 and Sox10 controls an anti-tumorigenic program in melanoma. |
| Q57338196 | Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease |
| Q35595483 | Association study of PHOX2B as a candidate gene for Hirschsprung's disease. |
| Q30502974 | At the speed of sound: gene discovery in the auditory system |
| Q33878477 | BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation |
| Q36856246 | Back to basics: Sox genes |
| Q33639128 | Beginning of a molecular era in hearing and deafness |
| Q35129949 | Beta-catenin in the melanocyte lineage |
| Q39397994 | Beyond MITF: Multiple transcription factors directly regulate the cellular phenotype in melanocytes and melanoma. |
| Q24522646 | Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter. |
| Q36422875 | Brain connexins in demyelinating diseases: therapeutic potential of glial targets |
| Q38061180 | Building a brain in the gut: development of the enteric nervous system |
| Q27027426 | Building additional complexity to in vitro-derived intestinal tissues |
| Q64041991 | Case of Waardenburg Shah syndrome in a family with review of literature |
| Q30273715 | Cell type-specific activation of neuronal nicotinic acetylcholine receptor subunit genes by Sox10. |
| Q36272951 | Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis). |
| Q42629090 | Chick sox10, a transcription factor expressed in both early neural crest cells and central nervous system |
| Q36897916 | Clinical aspects of hereditary hearing loss. |
| Q38802504 | Clinical aspects of neurointestinal disease: Pathophysiology, diagnosis, and treatment |
| Q50222124 | Clinical manifestations of Waardenburg syndrome in a male adolescent in Mali, West Africa |
| Q50470371 | Clinicopathological evaluation of Sox10 expression in diffuse-type gastric adenocarcinoma. |
| Q22253229 | Cloning and characterisation of the Sry-related transcription factor gene Sox8. |
| Q24290932 | Cloning, characterization and chromosome mapping of the human SOX6 gene |
| Q34428830 | Comparison of melanoblast expression patterns identifies distinct classes of genes |
| Q52095660 | Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer. |
| Q36390461 | Congenital hearing impairment |
| Q26866340 | Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model |
| Q24676478 | Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors |
| Q38359542 | Cooperative binding of Sox10 to DNA: requirements and consequences |
| Q44432231 | Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease |
| Q50425530 | De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss |
| Q28241115 | De novo SOX11 mutations cause Coffin-Siris syndrome |
| Q33556276 | Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment |
| Q36682239 | Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome |
| Q36512067 | Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 |
| Q37998518 | Demyelinating prenatal and infantile developmental neuropathies |
| Q34003452 | Dermatologic clues to inherited disease |
| Q57911328 | Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10 |
| Q38066359 | Development and developmental disorders of the enteric nervous system |
| Q34872727 | Development of pigment cells in the zebrafish embryo |
| Q34579096 | Development of the enteric nervous system |
| Q33535761 | Development of the human gastrointestinal tract: twenty years of progress |
| Q33665941 | Development of the mammalian enteric nervous system |
| Q34580794 | Development of the zebrafish inner ear. |
| Q33717205 | Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilities |
| Q34081806 | Developmental disorders of the enteric nervous system |
| Q35176981 | Diagnosis and treatment of chronic gastroparesis and chronic intestinal pseudo-obstruction. |
| Q37040627 | Diagnostic SOX10 gene signatures in salivary adenoid cystic and breast basal-like carcinomas. |
| Q28201772 | Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation |
| Q77110246 | Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease |
| Q35009580 | Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice |
| Q40997155 | Distribution of glial cell line-derived neurotrophic factor mRNA in human colon suggests roles for muscularis mucosae in innervation |
| Q54350631 | Downregulation of Notch-1/Jagged-2 in human colon tissues from Hirschsprung disease patients. |
| Q42326745 | Dual lineage-specific expression of Sox17 during mouse embryogenesis. |
| Q29147396 | EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state |
| Q35561135 | Elevated in vivo levels of a single transcription factor directly convert satellite glia into oligodendrocyte-like cells |
| Q28087169 | Emerging clinical applications of selected biomarkers in melanoma |
| Q36603964 | Enteric nervous system and developmental abnormalities in childhood |
| Q26849660 | Enteric nervous system development: migration, differentiation, and disease |
| Q64883765 | Enteric nervous system development: what could possibly go wrong? |
| Q37504561 | Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease. |
| Q35027888 | Etiology of syndromic and nonsyndromic sensorineural hearing loss |
| Q52003127 | Expression of Hand2 is sufficient for neurogenesis and cell type-specific gene expression in the enteric nervous system. |
| Q78290051 | Expression of Sox8, Sox9 and Sox10 in the developing valves and autonomic nerves of the embryonic heart |
| Q57829890 | Expression of the SOX10 gene during human development |
| Q49159530 | Expression of the Sox10 gene during mouse inner ear development |
| Q34199653 | Expression of transcription factors during oligodendroglial development |
| Q33853719 | Fine mapping of the 9q31 Hirschsprung's disease locus. |
| Q33809286 | Fine mapping of the NRG1 Hirschsprung's disease locus |
| Q39221861 | From fish bowl to bedside: The power of zebrafish to unravel melanoma pathogenesis and discover new therapeutics. |
| Q24309053 | Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients |
| Q50432807 | Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. |
| Q42497368 | Functional constraints on SoxE proteins in neural crest development: The importance of differential expression for evolution of protein activity |
| Q28115167 | Further complexity of the human SOX gene family revealed by the combined use of highly degenerate primers and nested PCR |
| Q38393019 | Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness |
| Q38049482 | Gene mutations associated with anomalies of human gonad formation |
| Q100512500 | Gene therapy and gene correction: targets, progress, and challenges for treating human diseases |
| Q37839240 | Generation of melanocytes from neural crest cells. |
| Q33665891 | Genes involved in deafness |
| Q36145946 | Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy |
| Q34211976 | Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease. |
| Q30474153 | Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations |
| Q35563834 | Genetic basis of Hirschsprung disease: implications in clinical practice |
| Q34986444 | Genetic basis of Hirschsprung's disease. |
| Q34306371 | Genetic evaluation and counseling in head and neck syndromes |
| Q43010652 | Genetic interactions and modifier genes in Hirschsprung's disease |
| Q33752726 | Genetics and molecular biology of deafness |
| Q34306434 | Genetics and molecular biology of deafness. Update |
| Q36271544 | Genetics of Hearing Loss: Syndromic |
| Q38899834 | Genetics of enteric neuropathies. |
| Q28943464 | Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease |
| Q33905712 | Genomic characterisation and fine mapping of the human SOX13 gene |
| Q28212326 | Getting your Pax straight: Pax proteins in development and disease |
| Q34443063 | GnRH, anosmia and hypogonadotropic hypogonadism--where are we? |
| Q24646177 | Gpnmb is a melanoblast-expressed, MITF-dependent gene |
| Q42122801 | Greglist: a database listing potential G-quadruplex regulated genes |
| Q33689173 | HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation. |
| Q38035208 | Hearing impairments caused by genetic and environmental factors |
| Q38534660 | Hearing loss in Waardenburg syndrome: a systematic review |
| Q40735895 | Hirschsprung associated GDNF mutations do not prevent RET activation. |
| Q50196075 | Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes |
| Q33688226 | Hirschsprung disease and other enteric dysganglionoses |
| Q34428513 | Hirschsprung disease, associated syndromes, and genetics: a review |
| Q38116935 | Hirschsprung disease: a developmental disorder of the enteric nervous system. |
| Q41049151 | Hirschsprung's disease genes and the development of the enteric nervous system |
| Q34384188 | Histopathology and molecular genetics of hearing loss in the human |
| Q38316691 | Homologue of Sox10 in Misgurnus anguillicaudatus: sequence, expression pattern during early embryogenesis |
| Q35925745 | Human enteric neuropathies: morphology and molecular pathology. |
| Q33346003 | Human hereditary hearing impairment: mouse models can help to solve the puzzle |
| Q39478251 | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome |
| Q47190315 | Identification and functional analysis of SOX10 phosphorylation sites in melanoma |
| Q28506101 | Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect |
| Q52119538 | Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene. |
| Q31033978 | Identification of a human glioma antigen, SOX6, recognized by patients' sera |
| Q43185873 | Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit |
| Q33368845 | Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation |
| Q35196015 | Identification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis |
| Q33367100 | Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish |
| Q78311100 | Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations |
| Q28512330 | Idiopathic weight reduction in mice deficient in the high-mobility-group transcription factor Sox8 |
| Q28513726 | Impact of transcription factor Sox8 on oligodendrocyte specification in the mouse embryonic spinal cord |
| Q40432973 | In vitro isolation and cell culture of vestibular inner ear melanocytes |
| Q60035820 | Incidence of RET mutations in patients with Hirschsprung's disease |
| Q34154152 | Interaction of Sox1, Sox2, Sox3 and Oct4 during primary neurogenesis |
| Q50465179 | Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. |
| Q73689135 | Interactions between regulatory proteins that bind to the nicotinic receptor beta4 subunit gene promoter |
| Q34694810 | Interspecies difference in the regulation of melanocyte development by SOX10 and MITF. |
| Q33797034 | Interstitial cells of Cajal in human gut and gastrointestinal disease |
| Q34236122 | Intestinal motility disorders and development of the enteric nervous system |
| Q40960470 | Investigation of germline GFR alpha-1 mutations in Hirschsprung disease. |
| Q35605436 | Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient |
| Q28188758 | Is there a role for the IHH gene in Hirschsprung's disease? |
| Q50856695 | Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells. |
| Q44026181 | Isolation and expression of two distinct Sox8 genes in mudloach (Misgurnus anguillicaudatus). |
| Q47618208 | Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. |
| Q28594025 | Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo |
| Q36817329 | Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness |
| Q46440873 | Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan |
| Q36661277 | Magnetic resonance imaging pattern recognition in hypomyelinating disorders |
| Q57234004 | Mapping of a Hirschsprung's disease locus in 3p21 |
| Q38463885 | Mapping platypus SOX genes; autosomal location of SOX9 excludes it from sex determining role. |
| Q28213186 | Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators |
| Q39028597 | Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development |
| Q37303304 | Mechanisms for reaching the differentiated state: Insights from neural crest-derived melanocytes |
| Q27306225 | Meis3 is required for neural crest invasion of the gut during zebrafish enteric nervous system development |
| Q28237203 | Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors |
| Q44016906 | Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. |
| Q28508181 | Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome |
| Q28510466 | Mice null for sox18 are viable and display a mild coat defect |
| Q35146535 | Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival. |
| Q44512194 | Microphthalmia-associated transcription factor (MITF) is required but is not sufficient to induce the expression of melanogenic genes |
| Q35129932 | Microphthalmia-associated transcription factor in the Wnt signaling pathway |
| Q38823041 | Microphthalmia-associated transcription factor is expressed in projection neurons of the mouse olfactory bulb |
| Q52118710 | Migration and function of a glial subtype in the vertebrate peripheral nervous system. |
| Q33603649 | Modeling stochastic gene expression: implications for haploinsufficiency |
| Q34588224 | Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes |
| Q48232579 | Molecular cloning and mRNA expression pattern of Sox10 in Paramisgurnus dabryanus |
| Q39449898 | Molecular fingerprinting delineates progenitor populations in the developing zebrafish enteric nervous system |
| Q28248837 | Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations |
| Q35843297 | Molecular mechanisms of neural crest induction |
| Q34536726 | Mouse models for four types of Waardenburg syndrome |
| Q38883845 | Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players |
| Q48357457 | Mouse models of myelin diseases |
| Q30499506 | Multiple conserved regulatory elements with overlapping functions determine Sox10 expression in mouse embryogenesis |
| Q37118544 | Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET. |
| Q22254158 | Muscle differentiation is antagonized by SOX15, a new member of the SOX protein family |
| Q41199733 | Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease |
| Q40226128 | Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients |
| Q33781087 | Mutations in SCG10 are not involved in Hirschsprung disease |
| Q28513043 | Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice |
| Q24540491 | Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness |
| Q24301631 | Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia |
| Q28144228 | Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation |
| Q95642207 | Negative Association Between lncRNA HOTTIP rs3807598 C>G and Hirschsprung Disease |
| Q52174163 | Neural crest anomaly syndromes in children with spina bifida. |
| Q39539932 | Neural crest cells retain their capability for multipotential differentiation even after lineage-restricted stages. |
| Q24540201 | Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain |
| Q35738984 | New insights into human enteric neuropathies |
| Q24535880 | Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features |
| Q51372533 | Normal ventilation and ventilatory responses to chemical stimuli in juvenile mutant mice deficient in endothelin-3. |
| Q50469876 | Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease. |
| Q92575313 | Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3. |
| Q92562345 | Null mutation of the endothelin receptor type B gene causes embryonic death in the GK rat |
| Q33714632 | Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer |
| Q48743716 | Oligodendroglial-specific transcriptional factor SOX10 is ubiquitously expressed in human gliomas |
| Q42016704 | Origins of gliogenic stem cell populations within adult skin and bone marrow. |
| Q33980620 | PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1 |
| Q52101653 | PMX2B, a new candidate gene for Hirschsprung's disease. |
| Q28392573 | Partial requirement of endothelin receptor B in spiral ganglion neurons for postnatal development of hearing |
| Q38292266 | Pax3 down-regulation and shut-off of melanogenesis in melanoma B16/F10.9 by interleukin-6 receptor signaling |
| Q40432015 | Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret |
| Q34421493 | Peroxisome-proliferator-activated receptor-binding protein (PBP) is essential for the growth of active Notch4-immortalized mammary epithelial cells by activating SOX10 expression |
| Q34762174 | Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb |
| Q54018089 | Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10. |
| Q38016481 | Piebaldism |
| Q37317139 | Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease |
| Q43177808 | Polymorphisms of the RET gene in hirschsprung disease, anorectal malformation and intestinal pseudo-obstruction in Taiwan. |
| Q33269548 | Preferential expression and frequent IgG responses of a tumor antigen, SOX5, in glioma patients |
| Q36429266 | Primary anorectal melanoma: an update |
| Q39452670 | Protein zero gene expression is regulated by the glial transcription factor Sox10 |
| Q38160223 | Putative role of HIF transcriptional activity in melanocytes and melanoma biology |
| Q34087982 | QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations |
| Q40882961 | RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems |
| Q36458528 | RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease. |
| Q51775317 | Reduced endothelin converting enzyme-1 and endothelin-3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease-like distal intestinal aganglionosis. |
| Q57200575 | Reduced endothelin-3 expression in sporadic Hirschsprung disease |
| Q36041868 | Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes. |
| Q46903118 | Reply to niermeijer |
| Q24537423 | Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. |
| Q37686450 | Review and update of mutations causing Waardenburg syndrome. |
| Q38363835 | Roles of Hoxb5 in the development of vagal and trunk neural crest cells. |
| Q33932242 | SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer |
| Q35364550 | SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants |
| Q46658090 | SOX10 mutations mimic isolated hearing loss |
| Q30010215 | SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter |
| Q38314140 | SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells |
| Q28509280 | SOX7 and SOX17 regulate the parietal endoderm-specific enhancer activity of mouse laminin alpha1 gene |
| Q28640827 | SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling |
| Q47855408 | SOX8 expression during chick embryogenesis. |
| Q35956740 | SOX9 is a key player in ultraviolet B-induced melanocyte differentiation and pigmentation |
| Q54952133 | Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome? |
| Q74290562 | Shah Waardenberg syndrome |
| Q38321731 | Slow and fast fiber isoform gene expression is systematically altered in skeletal muscle of the Sox6 mutant, p100H. |
| Q34005547 | Sox proteins in melanocyte development and melanoma |
| Q39162325 | Sox10 and Itgb1 interaction in enteric neural crest cell migration. |
| Q36295516 | Sox10 contributes to the balance of fate choice in dorsal root ganglion progenitors |
| Q30437030 | Sox10 expressing cells in the lateral wall of the aged mouse and human cochlea |
| Q40867592 | Sox10 expression in ovarian epithelial tumors is associated with poor overall survival |
| Q24537637 | Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation |
| Q41775433 | Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage |
| Q38352189 | Sox10 is required for the early development of the prospective neural crest in Xenopus embryos. |
| Q52055081 | Sox10 overexpression induces neural crest-like cells from all dorsoventral levels of the neural tube but inhibits differentiation. |
| Q39318116 | Sox10 promotes the formation and maintenance of giant congenital naevi and melanoma |
| Q52103988 | Sox10 regulates the development of neural crest-derived melanocytes in Xenopus. |
| Q35569050 | Sox10--a marker for not only schwannian and melanocytic neoplasms but also myoepithelial cell tumors of soft tissue: a systematic analysis of 5134 tumors |
| Q30497441 | Sox10-Venus mice: a new tool for real-time labeling of neural crest lineage cells and oligodendrocytes |
| Q28505726 | Sox15 is up regulated in the embryonic mouse testis |
| Q48358026 | Sox18 expression in blood vessels and feather buds during chicken embryogenesis |
| Q49239882 | Sox18 is transiently expressed during angiogenesis in granulation tissue of skin wounds with an identical expression pattern to Flk-1 mRNA. |
| Q60411801 | Sox18 mutations in theragged mouse allelesragged-like andopossum |
| Q24682020 | Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death |
| Q30696606 | Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours |
| Q28585519 | Sox8 is a critical regulator of adult Sertoli cell function and male fertility |
| Q28587628 | Sox8 is a specific marker for muscle satellite cells and inhibits myogenesis |
| Q42510262 | Sox9 and Sox8 are required for basal lamina integrity of testis cords and for suppression of FOXL2 during embryonic testis development in mice. |
| Q43444045 | SoxE gene duplication and development of the lamprey branchial skeleton: Insights into development and evolution of the neural crest |
| Q36536675 | SoxE proteins are differentially required in mouse adrenal gland development |
| Q47413249 | Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. |
| Q44423727 | Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations |
| Q35771686 | Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders |
| Q64074445 | Stem Cell-Derived Models of Neural Crest Are Essential to Understand Melanoma Progression and Therapy Resistance |
| Q38865488 | Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations. |
| Q24305413 | Sumoylation of the SOX10 transcription factor regulates its transcriptional activity |
| Q36826195 | Symptomatology, pathophysiology, diagnostic work-up, and treatment of Hirschsprung disease in infancy and childhood |
| Q40846928 | Synergistic transcriptional activation by Sox10 and Sp1 family members |
| Q49186985 | Systematic target function annotation of human transcription factors |
| Q36294018 | TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. |
| Q33781625 | Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo |
| Q38323382 | Temporally regulated neural crest transcription factors distinguish neuroectodermal tumors of varying malignancy and differentiation. |
| Q28511593 | Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10 |
| Q42178255 | The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome |
| Q24304297 | The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10 |
| Q22011211 | The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome |
| Q22009352 | The Sox-13 gene: structure, promoter characterization, and chromosomal localization |
| Q28505348 | The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18 |
| Q36923906 | The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy |
| Q37399330 | The Yin and Yang of Sox proteins: Activation and repression in development and disease |
| Q24647979 | The armadillo repeat-containing protein, ARMCX3, physically and functionally interacts with the developmental regulatory factor Sox10 |
| Q36951687 | The developmental etiology and pathogenesis of Hirschsprung disease. |
| Q27006931 | The emerging roles of ribosome biogenesis in craniofacial development |
| Q92751197 | The gene regulatory basis of genetic compensation during neural crest induction |
| Q35561249 | The genetics of Hirschsprung disease |
| Q39572483 | The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences |
| Q24337898 | The high-mobility group transcription factor Sox10 interacts with the N-myc-interacting protein Nmi |
| Q33906080 | The human SOX18 gene: cDNA cloning and high resolution mapping. |
| Q35146531 | The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia |
| Q39163758 | The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology |
| Q39399884 | The microenvironment in the Hirschsprung's disease gut supports myenteric plexus growth |
| Q37223570 | The nervous system and gastrointestinal function |
| Q28289351 | The regulation of epidermal melanogenesis via cAMP and/or PKC signaling pathways: insights for the development of hypopigmenting agents |
| Q28290131 | The role of SOX10 during enteric nervous system development |
| Q40423560 | The transcription factor Sox10 is a key regulator of peripheral glial development. |
| Q100750439 | The transcription factor Sox10 is an essential determinant of branching morphogenesis and involution in the mouse mammary gland |
| Q24291495 | The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene |
| Q36202037 | The transcription factors Ets1 and Sox10 interact during murine melanocyte development |
| Q30681365 | The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I. |
| Q35834767 | The transcription network regulating melanocyte development and melanoma |
| Q30431285 | Time-dependent gene expression analysis of the developing superior olivary complex |
| Q39990892 | Transcription factor Sox10 orchestrates activity of a neural crest-specific enhancer in the vicinity of its gene |
| Q47904370 | Transcription factor Sox10 regulates oligodendroglial Sox9 levels via microRNAs |
| Q33639123 | Transcription factors in dysmorphology |
| Q37323337 | Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf? |
| Q80433360 | Transcriptional profiling reveals evidence for signaling and oligodendroglial abnormalities in the temporal cortex from patients with major depressive disorder |
| Q90304572 | Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome |
| Q73778339 | Ulcerative proctitis, rectal prolapse, and intestinal pseudo-obstruction in transgenic mice overexpressing hepatocyte growth factor/scatter factor |
| Q34968770 | Understanding inner ear development with gene expression profiling. |
| Q92258462 | Waardenburg Syndrome Expression and Penetrance |
| Q34968711 | Zebrafish as a model for hearing and deafness. |
| Q33355991 | Zebrafish endzone regulates neural crest-derived chromatophore differentiation and morphology |
| Q30477530 | c-Ret-mediated hearing loss in mice with Hirschsprung disease |
| Q38295495 | colgate/hdac1 Repression of foxd3 expression is required to permit mitfa-dependent melanogenesis |
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