Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.

Autor: Clémentine Ripoll, Isabelle Rivals, Emilie Ait Yahya-Graison, Luce Dauphinot, Evelyne Paly, Clothilde Mircher, Aimé Ravel, Yann Grattau, Henri Bléhaut, André Mégarbane, Guy Dembour, Bénédicte de Fréminville, Renaud Touraine, Nicole Créau, Marie Claude Potier, Jean Maurice Delabar

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e41616 (2012)

Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were establish

Externí odkaz: https://doaj.org/article/61fc4e0889fa44edbfb11babca003653

TRIT1 deficiency: Two novel patients with four novel variants

Autor: Thomas Smol, Perrine Brunelle, Roseline Caumes, Odile Boute-Benejean, Caroline Thuillier, Martin Figeac, Emilie Ait-Yahya, Fabrice Bonte, Frederic Tran Mau-Them, Christel Thauvin-Robinet, Laurence Faivre, Catherine Roche-Lestienne, Sylvie Manouvrier-Hanu, Florence Petit, Jamal Ghoumid

Publikováno v: European journal of medical genetics. 65(11)

TRIT1 encodes a tRNA isopentenyl transferase that allows a strong interaction between the mini helix and the codon. Recent reports support the TRIT1 bi-allelic alterations as the cause of an autosomal recessive disorder, named combined oxydative phop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1743fb85b310727c283f71ae7ae39c39
https://pubmed.ncbi.nlm.nih.gov/36049610

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

Autor: Anna Raimbault, Susanne Morlot, Chen Du, Tim Ripperger, Gunnar Schmidt, Thomas Smol, Winfried Hofmann, Bernd Auber, Doris Steinemann, Gudrun Göhring, Anne Lambilliotte, Brigitte Schlegelberger, Emilie Ait-Yahya, Florence Petit, Jan Hendrik Niemann, Beate Kaune

Publikováno v: Clinical Genetics. 98:374-378

We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f090aab9a5681c87e14d36ec4c043f74
https://doi.org/10.1111/cge.13807

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods

Autor: Catherine Cardot-Bauters, Michel Crépin, Pascal Plouvier, Pascal Pigny, Stéphane Richard, Emilie Ait Yahya, Brigitte Bressac-de Paillerets, Lucie Coppin, Sophie Lejeune, Anne-Sophie Jourdain, Julie Leclerc

Publikováno v: Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, 2019, 21, pp.462-470. ⟨10.1016/j.jmoldx.2019.01.005⟩
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2019, 21, pp.462-470. ⟨10.1016/j.jmoldx.2019.01.005⟩

Von Hippel-Lindau disease (VHL) is a monogenic disorder characterized by the development of tumors affecting the central nervous system, kidney, pancreas, or adrenal glands, and due to germline mutations in the VHL tumor suppressor gene. About 5% of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43f52c86e2e147c56ba834992d7d072
https://hal.archives-ouvertes.fr/hal-03486408/file/S1525157818302599.pdf

Molecular signatures of cardiac defects in down syndrome lymphoblastoid cell lines suggest altered ciliome and hedgehog pathways

Autor: Emilie Ait Yahya-Graison, Marie-Claude Potier, R. Touraine, Guy Dembour, Luce Dauphinot, André Mégarbané, Nicole Créau, Evelyne Paly, Jean-Maurice Delabar, Clémentine Ripoll, Aimé Ravel, Bénédicte de Fréminville, Isabelle Rivals, Yann Grattau, Clothilde Mircher, Henri Bléhaut

Publikováno v: PLoS ONE, Vol. 7, no. 8 (2012)
PLoS ONE
PLoS ONE, Vol 7, Iss 8, p e41616 (2012)

Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were establish

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce1f85fdd6ad1b9267c5a1183cbbf11
https://hdl.handle.net/2078.1/164032