DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection

Authors: Bories, Charlie, Lejour, Thomas, Adolphe, Florine, Kermasson, Laëtitia, Couvé, Sophie, Tanguy, Laura, Luszczewska, Gabriela, Watzky, Manon, Poillerat, Victoria, Garnier, Pauline, Groisman, Regina, Ferlicot, Sophie, Richard, Stéphane, Saparbaev, Murat, Revy, Patrick, Gad, Sophie, Renaud, Flore

Source: In BBA - Molecular Basis of Disease April 2024 1870(4)

Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors

Authors: Adolphe, Florine, Ferlicot, Sophie, Verkarre, Virginie, Posseme, Katia, Couvé, Sophie, Garnier, Pauline, Droin, Nathalie, Deloger, Marc, Job, Bastien, Giraud, Sophie, Paillerets, Brigitte Bressac-de, Gardie, Betty, Richard, Stéphane, Renaud, Flore, Gad, Sophie

Source: Cancer genetics. 258:51-56

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100148112325.0x000001&indx=1&recIds=ETOCvdc_100148112325.0x000001

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Authors: Lenglet, Marion ^*, Robriquet, Florence ^*, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

Source: In Blood 2 August 2018 132(5):469-483

Renal Cell Carcinoma Programmed Death-ligand 1, a New Direct Target of Hypoxia-inducible Factor-2 Alpha, is Regulated by von Hippel–Lindau Gene Mutation Status

Authors: Messai, Yosra, Gad, Sophie, Noman, Muhammad Zaeem, Le Teuff, Gwenael, Couve, Sophie, Janji, Bassam, Kammerer, Solenne Florence, Rioux-Leclerc, Nathalie, Hasmim, Meriem, Ferlicot, Sophie, Baud, Véronique, Mejean, Arnaud, Mole, David Robert, Richard, Stéphane, Eggermont, Alexander M.M., Albiges, Laurence, Mami-Chouaib, Fathia, Escudier, Bernard, Chouaib, Salem

Source: In European Urology October 2016 70(4):623-632

Von Hippel–Lindau: How a rare disease illuminates cancer biology

Authors: Richard, Stéphane, Gardie, Betty, Couvé, Sophie, Gad, Sophie

Source: In Seminars in Cancer Biology February 2013 23(1):26-37

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot.

Authors: Puget, Nadine, Gad, Sophie, Perrin-Vidoz, Laure

Source: American Journal of Human Genetics; April 2002, Vol. 70 Issue 4, p858-865, 8p

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Authors: Yonneau Laurent, Méjean Arnaud, Denoux Yves, Giraud Sophie, Gad Sophie, Nordenskjöld Magnus, Bergerheim Ulf, Aly Markus, Zickert Peter, Sääf Annika, Yang Ximing J, Chen Jindong, Dykema Karl J, Niemi Natalie M, Petillo David, Klomp Jeff A, Vasiliu Viorel, Richard Stéphane, MacKeigan Jeffrey P, Teh Bin T, Furge Kyle A

Source: BMC Medical Genomics, Vol 3, Iss 1, p 59 (2010)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1755-8794/3/59; https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/219aa39d0f174213b0b236a620037294

The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues

Authors: Ding Guohui, Wen Gaiping, Gad Sophie, Autran Sandra, Koczan Dirk, Wilhelm Thomas, Dietmann Sabine, Lorenz Peter, Li Yixue, Rousseau-Merck Marie-Françoise, Thiesen Hans-Juergen

Source: BMC Genomics, Vol 11, Iss 1, p 206 (2010)

Subject Terms: Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/11/206; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/6c58211ee777418691e924b2b966a984

Cholesterol microcrystals in rheumatoid arthritis synovial liquid. (French)

Authors: Blouin, Jean-Marc, Poursac, Nicolas, Gad, Sophie, Richard, Emmanuel

Source: Annales de Biologie Clinique; jan/feb2024, Vol. 82 Issue 1, p112-113, 2p

Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma

Authors: Fevotte Joelle, Béroud Christophe, Caïola Delphine, Gad Sophie, Charbotel Barbara, Bergeret Alain, Ferlicot Sophie, Richard Stéphane

Source: Journal of Occupational Medicine and Toxicology, Vol 2, Iss 1, p 13 (2007)

Subject Terms: Industrial medicine. Industrial hygiene, RC963-969

File Description: electronic resource

Relation: http://www.occup-med.com/content/2/1/13; https://doaj.org/toc/1745-6673

Access URL: https://doaj.org/article/952d60e09ace4ca5815fba5dfec8b828

Is the gene encoding Chibby implicated as a tumour suppressor in colorectal cancer ?

Authors: Beaune Philippe, Berger Anne, Goasguen Nicolas, Lièvre Astrid, Teboul David, Gad Sophie, Laurent-Puig Pierre

Source: BMC Cancer, Vol 4, Iss 1, p 31 (2004)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2407/4/31; https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/29102d401910426f8474eed1d5bdf4ff

This result is not displayed to guests.
Login for full access.

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

Authors: Gad, Sophie, Caux-Moncoutier, Virginie, Pages-Berhouet, Sabine, Gauthier-Villars, Marion, Coupier, Isabelle, Pujol, Pascal, Frenay, Marc, Gilbert, Brigitte, Maugard, Christine, Bignon, Yves-Jean, Chevrier, Annie, Rossi, Annick, Fricker, Jean-Pierre, Nguyen, Tan Dat, Demange, Liliane, Aurias, Alain, Bensimon, Aaron, Stoppa-Lyonnet, Dominique

Source: Oncogene. 10/3/2002, Vol. 21 Issue 44, p6841. 7p. 1 Color Photograph, 2 Charts.

Subject Terms: *GENES, *GENETIC mutation, *BREAST cancer

GENETIC TESTING FOR BREAST CANCER PREDISPOSITION

Authors: Gauthier-Villars, Marion, Gad, Sophie, Caux, Virginie, Pagès, Sabine, Blandy, Cécile, Stoppa-Lyonnet, Dominique

Source: In Surgical Clinics of North America 1999 79(5):1171-1187

Involvement of PBRM1 in VHL disease-associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway.

Authors: Gad, Sophie^1,2 (AUTHOR), Le Teuff, Gwenaël^3,4 (AUTHOR), Nguyen, Baptiste¹ (AUTHOR), Verkarre, Virginie^5,6,7 (AUTHOR), Duchatelle, Veronique⁸ (AUTHOR), Molinie, Vincent^8,9 (AUTHOR), Posseme, Katia¹⁰ (AUTHOR), Grandon, Benjamin¹ (AUTHOR), Da Costa, Melanie¹ (AUTHOR), Job, Bastien¹¹ (AUTHOR), Meurice, Guillaume¹¹ (AUTHOR), Droin, Nathalie¹² (AUTHOR), Mejean, Arnaud^7,13 (AUTHOR), Couve, Sophie^1,2 (AUTHOR), Renaud, Flore^1,2 (AUTHOR), Gardie, Betty^1,14 (AUTHOR), Teh, Bin Tean^15,16 (AUTHOR), Richard, Stephane^1,2,7 (AUTHOR), Ferlicot, Sophie^2,7,10 (AUTHOR) sophie.ferlicot@aphp.fr

Source: Oncology Letters. Dec2021, Vol. 22 Issue 6, pN.PAG-N.PAG. 1p.

Subject Terms: *VON Hippel-Lindau disease, *RENAL cell carcinoma, *TUMOR suppressor genes, *SOMATIC mutation, *GENETIC mutation, *TUMOR classification

Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

Authors: Popova, Tatiana, Hebert, Lucie, Jacquemin, Virginie, Gad, Sophie, Caux-Moncoutier, Virginie, Dubois-d’Enghien, Catherine, Richaudeau, Bénédicte, Renaudin, Xavier, Sellers, Jason, Nicolas, André, Sastre-Garau, Xavier, Desjardins, Laurence, Gyapay, Gabor, Raynal, Virginie, Sinilnikova, Olga M., Andrieu, Nadine, Manié, Elodie, de Pauw, Antoine, Gesta, Paul, Bonadona, Valérie, Maugard, Christine M., Penet, Clotilde, Avril, Marie-Françoise, Barillot, Emmanuel, Cabaret, Odile, Delattre, Olivier, Richard, Stéphane, Caron, Olivier, Benfodda, Meriem, Hu, Hui-Han, Soufir, Nadem, Bressac-de Paillerets, Brigitte, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

Source: In The American Journal of Human Genetics 6 June 2013 92(6):974-980

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Identification of a new VHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Authors: Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

Source: Blood; August 2018, Vol. 132 Issue: 5 p469-483, 15p