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1. 多発性内分泌腫瘍2型の分類および遺伝学 classification and genetics of multiple endocrine neoplasia type 2

English Journal

Watanabe Y, Broders-Bondon F, Baral V, Paul-Gilloteaux P, Pingault V, Dufour S, Bondurand N.SourceINSERM U955, Equipe 11, F-94000 Créteil, France; Université Paris-Est, UMR_S955, UPEC, F-94000 Créteil, France.
Developmental biology.Dev Biol.2013 Jul 1;379(1):92-106. doi: 10.1016/j.ydbio.2013.04.013. Epub 2013 Apr 19.
SOX10 involvement in syndromic form of Hirschsprung disease (intestinal aganglionosis, HSCR) in humans as well as developmental defects in animal models highlight the importance of this transcription factor in control of the pool of enteric progenitors and their differentiation. Here, we characteriz
PMID 23608456

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.SourceThese authors contributed equally to this work.
Human molecular genetics.Hum Mol Genet.2013 Jul 1;22(13):2652-61. doi: 10.1093/hmg/ddt114. Epub 2013 Mar 5.
Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR). MWS is cau
PMID 23466526

QTL Analysis Identifies a Modifier Locus of Aganglionosis in the Rat Model of Hirschsprung Disease Carrying Ednrb^[sl] Mutations

Dang Ruihua,Torigoe Daisuke,Sasaki Nobuya,Agui Takashi
PLoS One 6(11), e27902, 2011-11-22
… Hirschsprung disease (HSCR) exhibits complex genetics with incomplete penetrance and variable severity thought to result as a consequence of multiple gene interactions that modulate the ability of enteric neural crest cells to populate the developing gut. … These findings strongly suggested that the severity of HSCR was affected by strain-specific genetic factor (s). … Our QTL analyses using rat models of HSCR revealed that multiple genetic factors regulated the severity of aganglionosis. …
NAID 120003660603

Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but not Hearing Loss in Rats Carrying Ednrb^[sl] Mutations

Dang Ruihua,Torigoe Daisuke,Suzuki Sari,Kikkawa Yoshiaki,Moritoh Kanako,Sasaki Nobuya,Agui Takashi
PLoS One 6(9), e24086, 2011-09-07
… Hirschsprung disease (HSCR) is thought to result as a consequence of multiple gene interactions that modulate the ability of enteric neural crest cells to populate the developing gut. … However, it remains unknown whether the single complete deletion of important HSCR-associated genes is sufficient to result in HSCR disease. …
NAID 120003370691

Nonsense Mutations of the ZFHX1B Gene in Two Japanese Girls with Mowat-Wilson Syndrome

TEGUH HARYO SASONGKO,AHMAD HAMIM SADEWA,GUNADI,MYEONG JIN LEE,Koterazawa Keiko
The Kobe journal of the medical sciences 53(4), 157-162, 2007-08
… MWS has been reported in association with Hirschsprung disease (HSCR).MWS is sometimes difficult to diagnose clinically, especially when HSCR is absent.Thus, it is necessary to detect gene abnormalities at the molecular level. … Patient 1 suffered from severe congenital heart disease, but did notshow apparent HSCR. … Patient 2 suffered from typical HSCR and underwent surgicaltreatment, but did not have congenital heart disease. …
NAID 120000943068