Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Javad, Nadaf"'
Autor:
Salma Baig, Javad Nadaf, Redouane Allache, Phuong U. Le, Michael Luo, Annisa Djedid, Andriniaina Nkili-Meyong, Maryam Safisamghabadi, Alex Prat, Jack Antel, Marie-Christine Guiot, Kevin Petrecca
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109342- (2024)
Summary: The existence of neural stem cells (NSCs) in adult human brain neurogenic regions remains unresolved. To address this, we created a cell atlas of the adult human subventricular zone (SVZ) derived from fresh neurosurgical samples using single
Externí odkaz:
https://doaj.org/article/3d038e673a17449c9b879de1a8e5bceb
Autor:
Paul S Thorner, Anne‐Sophie Chong, Javad Nadaf, Naciba Benlimame, Paula Marrano, Rose Chami, Lili Fu, William D Foulkes
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 8, Iss 6, Pp 579-581 (2022)
Externí odkaz:
https://doaj.org/article/67f05d9ff9b94cc19cf45b3fb7feedb1
Autor:
Caitlin T. Fierheller, Laure Guitton-Sert, Wejdan M. Alenezi, Timothée Revil, Kathleen K. Oros, Yuandi Gao, Karine Bedard, Suzanna L. Arcand, Corinne Serruya, Supriya Behl, Liliane Meunier, Hubert Fleury, Eleanor Fewings, Deepak N. Subramanian, Javad Nadaf, Jeffrey P. Bruce, Rachel Bell, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Jacek Majewski, Trevor J. Pugh, Marc Tischkowitz, Paul A. James, Ian G. Campbell, Celia M. T. Greenwood, Jiannis Ragoussis, Jean-Yves Masson, Patricia N. Tonin
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA r
Externí odkaz:
https://doaj.org/article/52b67832911d434ca9c1266c56a3622d
Autor:
Charles P. Couturier, Shamini Ayyadhury, Phuong U. Le, Javad Nadaf, Jean Monlong, Gabriele Riva, Redouane Allache, Salma Baig, Xiaohua Yan, Mathieu Bourgey, Changseok Lee, Yu Chang David Wang, V. Wee Yong, Marie-Christine Guiot, Hamed Najafabadi, Bratislav Misic, Jack Antel, Guillaume Bourque, Jiannis Ragoussis, Kevin Petrecca
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-19 (2020)
Glioblastoma is thought to arise from neural stem cells. Here, to investigate this, the authors use single-cell RNA-sequencing to compare glioblastoma to the fetal human brain, and find a similarity between glial progenitor cells and a subpopulation
Externí odkaz:
https://doaj.org/article/b6efd45faa5f47efaab210dc9f398a89
Autor:
Jolyane Meloche, Vanessa Brunet, Pierre‐Alexandre Gagnon, Marie‐Ève Lavoie, Jean‐Benoît Bouchard, Javad Nadaf, Jacek Majewski, Charles Morin, Catherine Laprise
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background This study reports the genetic features of four Caucasian males from the Saguenay‒Lac‐St‐Jean region affected by partial agenesis of the corpus callosum (ACC) with hypotonia, epilepsy, developmental delay, microcephaly, hypo
Externí odkaz:
https://doaj.org/article/0b5dddc31df54f1ba902cfa95780a88d
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation
Externí odkaz:
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
'Supplementary Table S2- Somatic mutations identified in the tumors from individuals III.6; III.7 and III.8 in family 1 and individual III.1 in family 2 among 193 DNA repair genes.'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369000d8c9d62bb2c1e36e02e21dc78f
https://doi.org/10.1158/0008-5472.22414869.v1
https://doi.org/10.1158/0008-5472.22414869.v1
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
This file includes supplementary Figure S1, Supplementary Figure S2 and Supplementary Figure S3. It also includes Supplementary Table S1 - RAD51D c.620C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71788fdaf41387d0575150ff4e63b88d
https://doi.org/10.1158/0008-5472.22414863.v1
https://doi.org/10.1158/0008-5472.22414863.v1
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
'Supplementary Table3 -Presence of allelic imbalanced alleles in RAD51D and TP53 somatic mutations in RAD51D c.620C>T;p.S207L HGSC carriers.'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0bafeeb6dd8be89a2dc3acd1a2ee99
https://doi.org/10.1158/0008-5472.22414866
https://doi.org/10.1158/0008-5472.22414866
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
RAD51D is a key player in DNA repair by homologous recombination (HR), and RAD51D truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating RAD51D variants to cancer predisposition remains uncer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7c1fda50beb24af86d523282dd71f2c
https://doi.org/10.1158/0008-5472.c.6509097.v1
https://doi.org/10.1158/0008-5472.c.6509097.v1