T
T Attié
Researcher at Necker-Enfants Malades Hospital
Publications - 34
Citations - 2666
T Attié is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: RET proto-oncogene & Waardenburg syndrome. The author has an hindex of 18, co-authored 34 publications receiving 2588 citations. Previous affiliations of T Attié include French Institute of Health and Medical Research & University of Paris.
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Journal ArticleDOI
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
Patrick Edery,T Attié,Jeanne Amiel,Anna Pelet,Charis Eng,Robert M. W. Hofstra,Helene Martelli,Christelle Bidaud,Arnold Munnich,Stanislas Lyonnet +9 more
TL;DR: A homozygous substitution/deletion mutation of the EDA/3 gene is reported in a WS-HSCR patient, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests.
Journal ArticleDOI
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
T Attié,Anna Pelet,Patrick Edery,Charis Eng,Charis Eng,Lois M. Mulligan,Lois M. Mulligan,Jeanne Amiel,Laetitia Boutrand,Cherif Beldjord,Claire Nihoul-Fékété,Arnold Munnich,Bruce A.J. Ponder,Stanislas Lyonnet +13 more
TL;DR: The low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR.
Journal ArticleDOI
Podocin localizes in the kidney to the slit diaphragm area.
Séverine Roselli,Olivier Gribouval,Nicolas Boute,Mireille Sich,T Attié,Marie-Claire Gubler,Corinne Antignac +6 more
TL;DR: In situ hybridization and electron microscopy demonstrate that podocin is facing the slit diaphragm with its two ends in the cytoplasm of the foot processes, in agreement with its predicted structure, suggesting thatpodocin could serve to anchor directly or indirectly components of the slitdiaphragms to the cytoskeleton.
Journal ArticleDOI
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
T Attié,Marianne Till,Anna Pelet,Jeanne Amiel,Patrick Edery,Laetitia Boutrand,Arnold Munnich,Stanislas Lyonnet +7 more
Journal ArticleDOI
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Rémi Salomon,T Attié,Anna Pelet,Christelle Bidaud,Charis Eng,Jeanne Amiel,Sabine Sarnacki,Olivier Goulet,Claude Ricour,Claire Nihoul-Fékété,Arnold Munnich,Stanislas Lyonnet +11 more
TL;DR: S segregation analysis suggested an incompletely penetrant dominant inheritance in HSCR families with agan-glionosis extending beyond the sigmoid colon, and mutations of the gene encoding GDNF could either cause or modulate the H SCR phenotype in some cases.