Zobrazeno 1 - 10
of 102
pro vyhledávání: '"N. Lemort"'
Autor:
N. Lemort, Nadege Bondurand, Michel Goossens, Odile Dubourg, Veronique Pingault, Mathilde Girard
Publikováno v:
Human Molecular Genetics. 10:2783-2795
Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and glial cells, are found in Shah-Waardenburg syndrome (WS4), a neurocristopathy that associates intestinal aganglionosis, pigm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d5ed97bca5b85d98d767ad195d8458
https://doi.org/10.1093/hmg/10.24.2783
https://doi.org/10.1093/hmg/10.24.2783
Autor:
Nadege Bondurand, Odile Boespflug-Tanguy, Odile Dubourg, S. Tardieu, Michel Goossens, Veronique Pingault, E. Le Guern, C Le Caignec, N. Lemort
Publikováno v:
Journal of Neurology. 248:496-499
The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirsc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::691f4483cf637fcb09e15033e7fea0b8
https://doi.org/10.1007/s004150170159
https://doi.org/10.1007/s004150170159
Autor:
Derk E. Goerich, N. Lemort, Elisabeth Sock, Veronique Pingault, Michael Wegner, Cédric Le Caignec, Michel Goossens, Nadege Bondurand
Publikováno v:
Human Molecular Genetics. 9:1907-1917
Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in 40 000 that manifests with sensorineural deafness and pigmentation defects. It is classified into four types depending on the presence or absence of additional symp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23267018d488895c5407665b993475f1
https://doi.org/10.1093/hmg/9.13.1907
https://doi.org/10.1093/hmg/9.13.1907
Autor:
Gérard Couly, Nadege Bondurand, Derk E. Goerich, N. Lemort, Michael Wegner, Alexandra Kobetz, Veronique Pingault, Marc Abitbol, Férechté Encha-Razavi, Michel Goossens
Publikováno v:
FEBS Letters. 432:168-172
SOX10, a new member of the SOX gene family, is a transcription factor defective in the Dom (Dominant megacolon) mouse and in the human Shah-Waardenburg syndrome. To help unravel its physiological role during human development, we studied SOX10 gene e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ed881e9791a9c4bd72fbded7ce90b4
https://doi.org/10.1016/s0014-5793(98)00843-6
https://doi.org/10.1016/s0014-5793(98)00843-6
Autor:
N. Lemort, Nadege Bondurand, Laure Stanchina, Michel Goossens, Veronique Pingault, Fabienne Robert, Vassilis Pachnis, Viviane Baral
Publikováno v:
Developmental biology. 295(1)
The requirement for SOX10 and endothelin-3/EDNRB signalling pathway during enteric nervous system (ENS) and melanocyte development, as well as their alterations in Waardenburg–Hirschsprung disease (hypopigmentation, deafness and absence of enteric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dedb502406333a25c48c3929ed0d7ae1
https://pubmed.ncbi.nlm.nih.gov/16650841
https://pubmed.ncbi.nlm.nih.gov/16650841
Autor:
N. Lemort, Jean-Pierre Hugot, Pierre-Simon Jouk, Isabella Ceccherini, Nadege Bondurand, Michel Goossens, Monica Sancandi, Veronique Pingault
Editor—Hirschsprung disease and Waardenburg syndrome are congenital malformations involving neural crest derivatives. Several genes are involved in these diseases, defining a complex pattern of inheritance. Hirschsprung disease (HSCR) is characteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcc54855356a5bea917e30341993a873
https://europepmc.org/articles/PMC1734825/
https://europepmc.org/articles/PMC1734825/
Autor:
Beate Herbarth, N. Lemort, Michel Goossens, Michael Wegner, Nadege Bondurand, Kirsten Kuhlbrodt, Irm Hermans-Borgmeyer, Veronique Pingault, Aldamaria Puliti
The spontaneous mouse mutant Dominant megacolon ( Dom ) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the Dom mouse is caused by mutation of the gene encoding the Sry-related
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0124344fe1a9846c2dfaf792fdf26f3
https://hdl.handle.net/11567/189520
https://hdl.handle.net/11567/189520
Publikováno v:
Atherosclerosis. 100(2)
Several reports have shown that lipoprotein(a) is associated with ischemic diseases. Two characteristics might explain this association. Firstly, Lp(a) is an LDL-like lipoprotein which may be implicated in the atherosclerotic process and secondly, Lp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68e0fdaa4c59c3b654c88d42a9478442
https://pubmed.ncbi.nlm.nih.gov/8357350
https://pubmed.ncbi.nlm.nih.gov/8357350
Publikováno v:
Atherosclerosis. 94(2-3)
Hyperhomocyst(e)inemia was shown to be associated with vascular occlusion in atherosclerotic patients. We have conducted a study to determine if hyperhomocyst(e)inemia was also related to the vascular events observed in women on oral contraceptives,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f8b369f40a0bbe285098b830ea8e3c8
https://pubmed.ncbi.nlm.nih.gov/1632868
https://pubmed.ncbi.nlm.nih.gov/1632868
Oral contraceptives, sex steroid-induced antibodies and vascular thrombosis: results from 1318 cases
Publikováno v:
European heart journal. 12(11)
The role of antiethinyl estradiol antibodies (anti EE Ab) and associated risk factors was evaluated in 1318 cases of venous or arterial thrombosis in oral contraceptives (OC) users, and compared to 61 non-users and 124 healthy current users. Anti EE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c31060d09ebdb28a87f587ece274719
https://pubmed.ncbi.nlm.nih.gov/1782953
https://pubmed.ncbi.nlm.nih.gov/1782953