Spelling suggestions: "subject:"hirsch's disease""
1 |
Genetic dissection of Hirschsprung's disease /Tang, Sze-man, January 2009 (has links)
Thesis (Ph. D.)--University of Hong Kong, 2010. / Includes bibliographical references (p. 161-180). Also available online.
|
2 |
Genetic dissection of Hirschsprung's diseaseTang, Sze-man, January 2009 (has links)
Thesis (Ph. D.)--University of Hong Kong, 2010. / Includes bibliographical references (p. 161-180). Also available in print.
|
3 |
Pathogenesis of Hirschsprung's diseaseSimel, Paul J. January 1954 (has links)
Thesis (M.D.)--Boston University
|
4 |
Genetic dissection of Hirschsprung's diseaseTang, Sze-man, 鄧詩敏 January 2009 (has links)
published_or_final_version / Psychiatry / Doctoral / Doctor of Philosophy
|
5 |
Re-sequencing of neuregulin 1 to search for rare variants in Chinese hirschsprung patientsTang, Wai-kiu., 鄧慧翹. January 2011 (has links)
published_or_final_version / Surgery / Master / Master of Research in Medicine
|
6 |
Functional analysis of RET mutations in Chinese Hirschsprung's disease patientsLeon, Yuk-yu. January 2007 (has links)
Thesis (Ph. D.)--University of Hong Kong, 2008. / Also available in print.
|
7 |
Establishment and direct differentiation of induced pluripotent stem cells from a Hirschsprung's patientYung, Sum-yee, Jasmine, 容心怡 January 2014 (has links)
Hirschsprung’s (HSCR) disease is a congenital disorder in which some enteric ganglion cells are absent in the colon due to incomplete colonization of neural crest cells (NCCs) in the hindgut, causing chronic constipation. A significant number of HSCR patients also clinically present with other NC- associated disorders, such as ventricular and atrial septal defects (VSD/ASD). A hypomorphic allele or SNP of a major gene, RET, causes or imparts susceptibility to HSCR. In particular, SNP (rs2435357) residing in the intron 1 of RET gene was found to be highly associated with HSCR and lead to reduced RET expression. However, the molecular basis of syndromic HSCR with VSD/ASD is largely unclear. In our project, with the use of the induced pluripotent stem cell (iPSC) technology, we aim to establish a patient-specific model unravel the etiology of HSCR and the associated disorders.
To this end, 3 iPSC clones from a syndromic HSCR patient with VSD/ASD, carrying the RET risk allele in rs2435357 were generated. We attempted to use different protocols to directly differentiate iPSCs into NCCs with unique HOX expression patterns, corresponding to anterior cranial/vagal or posterior vagal/trunk NCCs. Consistently, the patient iPSCs displayed similar capacities in generating NCCs at all axial levels, marked by HNK-1 and 〖p75〗^NTR. Nevertheless, the patient NCCs and their derivatives exhibited severe migration and/ or differentiation defects in making neurons and smooth muscle cells. In particular, HNK-1+〖p75〗^NTR+ HOX+ (vagal/trunk) NCCs derived from patient-iPSCs were less migratory compared to the control NCCs, while no obvious migration defect was observed in their cranial counterpart, indicating that the migration defect was only restricted to the more posterior NCCs. In addition, these patient NCCs were less capable in generating neurons and readily biased toward generating glial cells. Intriguingly, the neural differentiation defects were restricted to NC lineage. The capacity of patient iPSCs to make various types of CNS progenitors and neurons was comparable to that of the control iPSCs, nicely recapitulating the patient’s phenotype where only enteric neurons, but not CNS progenitors were affected. Subsequent expression analysis revealed that patient NCCs express lower level of RET which is known to be regulating enteric NCC migration and differentiation. Whole transcriptome RNA sequencing analysis also revealed an enhanced expression of genes associated with gliogenesis and a reduced expression in genes associated with neurogenesis and migration. Moreover, the expression of a new candidate gene ALDH3B1 was shown to be significantly reduced in the HSCR-iPSC-derived NCCs that might contribute to the disease pathogenesis. In summary, these data suggests that reduced RET expression in HSCR patient NCCs may at least partly account for the disease phenotypes. / published_or_final_version / Surgery / Doctoral / Doctor of Philosophy
|
8 |
Molecular-genetic analysis of Hirschsprung's disease in South AfricaJulies, Monique G. 03 1900 (has links)
Thesis (MSc)--Stellenbosch University, 2000. / ENGLISH ABSTRACT: Hirschsprung's disease, or aganglionic megacolon, is a common cause of intestinal
obstruction in neonates and is associated with the congenital absence of intrinsic
ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract.
The affected area is usually restricted to the distal part of the colon (short segment
disease), but total colonic or intestinal involvement occurs in some patients (long
segment disease).
DNA analysis was performed on samples from 53 unrelated sporadic HSCR patients
to search for mutations in RET proto-oncogene, endothelin-B receptor (EDNRB) and
endothelin-3 (EDN3) genes. The patients were from different ethnic groups in South
Africa, including 29 coloured, 14 white (Caucasian) and 9 black individuals. The
origin of 1 patient was unknown. PCR HEX-SSCP analysis of the RET protooncogene
revealed one previously described (P973L) and five novel mutations
(V202M, E480K, IVS10-2A1G, D771N, IVS19-9Crr), likely to cause or contribute to
the HSCR phenotype. Nine polymorphisms were also identified in the RET protooncogene,
of which four were novel (IVS6+56deIG, IVS13-29Crr, IVS16-38deIG,
X1159) and five previously described (A45, A432, L769, S904, R982). All the mobility
shifts detected in the EDNRB gene represented polymorph isms (A60T, S184, 1187,
V234, L277, IVS3-6Crr, IVS4+3A1G). No sequence variants were identified in the
EDN3 gene. The majority of mutations in the RET proto-oncogene (28.6%) were
identified in coloured patients while no mutations were identified in black patients. A
mutation in RET was identified in two of 14 patients (14%) presenting with HSCR and
Down's syndrome compared to 6 mutations identified in 9 of 39 patients (23%) with only HSCR. The fact that Down's syndrome patients have a high chance of
developing HSCR, implies the involvement of modifier gene(s) in a HSCR/Oown's
syndrome phenotype.
This study demonstrated that, within the South African HSCR patient population, the
RET proto-oncogene is the major susceptibility gene, whereas EDNRB and EDN3
may contribute only to a minority of cases. In 81% of patients no disease-causing
mutation could be identified, which is in keeping with the heterogeneous nature of
HSCR. The identification of mutations in HSCR patients would in future lead to
improved and accurate counselling of South African HSCR patients and their
families. / AFRIKAANSE OPSOMMING: Hirschsprung se siekte (HSCR), ook bekend as aganglionosis megakolon, is 'n
algemene oorsaak van intestinale obstruksie in pasgeborenes en word geassosieer
met die kongenitale afwesigheid van intrinsieke ganglion selle, in die miênteries en
submukosa pleksus van die gastrointestinale kanaal. Alhoewel die aangetaste deel
hoofsaaklik by die distale area van die kolon geleê is (kort segment siekte), kom
totale koloniese of intestinale betrokkenheid ook in sommige pasiënte voor (lang
segment tipe).
Molekulêre ONS analise van 53 nie-verwante Suid Afrikaanse sporadiese HSCR
pasiênte (29 kleurlinge, 14 blankes, 9 swartes en 1 individu van onbekende
oorsprong) is uitgevoer in die RET proto-onkogeen, endoteel-B reseptor (EDNRB) en
endoteel-3 (EDN3) gene. Heterodupleks-enkel string konformasie polimorfisme
(HEX-SSCP) analise van polimerase ketting reaksie (PKR) geamplifiseerde produkte
van die RET proto-onkogeen het gelei tot die identifikasie van vyf nuwe mutasies
(V202M, E480K, IVS10-2A1G, D771N, IVS19-9CIT) en een bekende mutasie
(P973L). Vier nuwe polimorfismes (IVS6+56deIG, IVS13-29Crr, IVS16-38deIG,
X1159) en vyf bekende polimorfismes (A45, A432, L769, S904, R982) is ook
aangetoon. Sewe polimorfismes (A60T, S184, 1187, V234, L277, IVS3-6CIT,
IVS4+3A1G) is in die EDNRB geen geïdentifiseer. Geen veranderinge is in die EDN3
geen waargeneem nie. Die meerderheid mutasies waargeneem in die RET protoonkogeen
is in die kleurling populasie (28.6%) waargeneem, terwyl geen mutasies in
die swart populasie geïdentifiseer is nie. 'n RET mutasie is in twee van 14 (14%)
pasiênte met 'n HSCR en Down's sindroom fenotipe waargeneem, in vergelyking met mutasies geïdentifiseer in 9 van 39 pasiënte (23%) met slegs HSCR. Die algemene
voorkoms van Down's sindroom met HSCR, impliseer die rol van ander gene in die
HSCRI Down's sindroom fenotipe.
Die meerderheid mutasies wat aanleiding gee tot die HSCR fenotipe kom voor in die
RET proto-onkogeen (19%), terwyl slegs polimorfismes in die EDNRB geen
waargeneem is. Geen HEX-SSCP bandpatroon veranderinge is in die EDN3 geen
waargeneem nie. Ongeveer 81% van die Suid Afrikaanse HSCR pasiënte was
mutasie-negatief wat dui op die heterogene aard van die siekte. In die toekoms sal
analise van siekte-verwante mutasies in die RET geen lei tot akkurate diagnose en
verbeterde genetiese voorligting van HSCR in die Suid-Afrikaanse populasie.
|
9 |
Functional analysis of RET mutations in Chinese Hirschsprung's diseasepatientsLeon, Yuk-yu., 梁毓裕. January 2007 (has links)
published_or_final_version / abstract / Surgery / Doctoral / Doctor of Philosophy
|
10 |
The microenvironment of the normal and aganglionic chick bowelRakoff, Sasha January 1997 (has links)
No description available.
|
Page generated in 0.0504 seconds