SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

scientific article (publication date: August 2002)

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1001282174
P356DOI10.1007/S00439-002-0765-8
P698PubMed publication ID12189494

P50authorLionel Van MaldergemQ30089870
Veronique PingaultQ42877586
Clarisse BaumannQ117252665
P2093author name stringDavid Mowat
Ishwar Verma
Michel Goossens
Huw Dorkins
Nadège Bondurand
Mathilde Girard
Takashi Shimotake
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectpathophysiologyQ1135939
chronic intestinal pseudoobstructionQ56014002
P304page(s)198-206
P577publication date2002-08-01
P1433published inHuman GeneticsQ5937167
P1476titleSOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
P478volume111

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cites work (P2860)
Q54608231A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.
Q40610316A Novel Mutation in Nucleoporin 35 Causes Murine Degenerative Colonic Smooth Muscle Myopathy.
Q54947953A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
Q57281718A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3
Q48959620A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis
Q56994795A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24
Q30485384A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle
Q39042354Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).
Q55021518Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.
Q38967384Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options.
Q50425530De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss
Q36512067Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
Q37998518Demyelinating prenatal and infantile developmental neuropathies
Q35176981Diagnosis and treatment of chronic gastroparesis and chronic intestinal pseudo-obstruction.
Q89526910Dlx1/2 mice have abnormal enteric nervous system function
Q29147396EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state
Q38886424Enteric neuropathies: Yesterday, Today and Tomorrow.
Q36428527From the bench to the 'crib'-side: implications of scientific advances to paediatric neurogastroenterology and motility
Q36145946Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy
Q34986444Genetic basis of Hirschsprung's disease.
Q38899834Genetics of enteric neuropathies.
Q33689173HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.
Q38534660Hearing loss in Waardenburg syndrome: a systematic review
Q42749229Intestinal pseudo-obstruction: an uncommon condition with heterogeneous etiology and unpredictable outcome
Q35605436Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient
Q28248837Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
Q36119799Multiple endocrine neoplasia type 2B and Hirschsprung's disease
Q37369042Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
Q38250145Neural crest cells: from developmental biology to clinical interventions
Q84049654Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome
Q28300725PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
Q54018089Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
Q37686450Review and update of mutations causing Waardenburg syndrome.
Q38713939SOX10 is over-expressed in bladder cancer and contributes to the malignant bladder cancer cell behaviors
Q34005547Sox proteins in melanocyte development and melanoma
Q38352189Sox10 is required for the early development of the prospective neural crest in Xenopus embryos.
Q44423727Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations
Q35561249The genetics of Hirschsprung disease
Q28290131The role of SOX10 during enteric nervous system development
Q42385938Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
Q92258462Waardenburg Syndrome Expression and Penetrance
Q90292605Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
Q53267844Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

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