File Download
There are no files associated with this item.
Supplementary
-
Citations:
- Appears in Collections:
Book Chapter: Genetics of Hirschsprung’s Disease
Title | Genetics of Hirschsprung’s Disease |
---|---|
Authors | |
Keywords | Hirschsprung disease Genes Mutations Common variants Copy number variants |
Issue Date | 2019 |
Publisher | Springer International Publishing. |
Citation | Genetics of Hirschsprung’s Disease. In Puri, P (Eds.), Hirschsprung's Disease and Allied Disorders (Fourth Edition), p. 121-131. Cham: Springer International Publishing, 2019 How to Cite? |
Abstract | Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that mainly results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in the light of the molecular and cellular events that take place during ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process and represent a primary aetiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact and on how technological advances are being employed to uncover the pathological processes underlying this disease. |
Persistent Identifier | http://hdl.handle.net/10722/272046 |
ISBN |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tam, PKH | - |
dc.contributor.author | Tang, SM | - |
dc.contributor.author | Garcia-Barcelo, MM | - |
dc.date.accessioned | 2019-07-20T10:34:35Z | - |
dc.date.available | 2019-07-20T10:34:35Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Genetics of Hirschsprung’s Disease. In Puri, P (Eds.), Hirschsprung's Disease and Allied Disorders (Fourth Edition), p. 121-131. Cham: Springer International Publishing, 2019 | - |
dc.identifier.isbn | 9783030156466 | - |
dc.identifier.uri | http://hdl.handle.net/10722/272046 | - |
dc.description.abstract | Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that mainly results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in the light of the molecular and cellular events that take place during ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process and represent a primary aetiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact and on how technological advances are being employed to uncover the pathological processes underlying this disease. | - |
dc.language | eng | - |
dc.publisher | Springer International Publishing. | - |
dc.relation.ispartof | Hirschsprung's Disease and Allied Disorders (Fourth Edition) | - |
dc.subject | Hirschsprung disease | - |
dc.subject | Genes | - |
dc.subject | Mutations | - |
dc.subject | Common variants | - |
dc.subject | Copy number variants | - |
dc.title | Genetics of Hirschsprung’s Disease | - |
dc.type | Book_Chapter | - |
dc.identifier.email | Tam, PKH: paultam@hku.hk | - |
dc.identifier.email | Tang, SM: claratang@hku.hk | - |
dc.identifier.email | Garcia-Barcelo, MM: mmgarcia@hku.hk | - |
dc.identifier.authority | Tam, PKH=rp00060 | - |
dc.identifier.authority | Tang, SM=rp02105 | - |
dc.identifier.authority | Garcia-Barcelo, MM=rp00445 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1007/978-3-030-15647-3_7 | - |
dc.identifier.hkuros | 299524 | - |
dc.identifier.spage | 121 | - |
dc.identifier.epage | 131 | - |
dc.publisher.place | Cham | - |