Results 111 to 120 of about 41,388 (198)

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]

, 2017
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne, Devuyst, Olivier, Luciani, Alessandro, Nevo, Nathalie, Raggi, Claudia, Terryn, Sara   +5 more
core  

Euglycemic diabetic ketoacidosis and a probable Fanconi syndrome secondary to dapagliflozin: a case report

Medicina Universitaria
Sodium-glucose cotransporter-2 (SGLT-2) inhibitors are therapeutic agents used to treat hyperglycemia in patients with type 2 diabetes. Since their approval, cases of euglycemic diabetic ketoacidosis (DKA) have been reported with empagliflozin ...
Luis E. Fernández-Garza, Daniela Mares-Custodio, Juan J. Arias Alzate, Renata P. Nomura-Quiroz   +3 more
doaj   +1 more source

Fanconi syndrome due to prolonged use of low-dose adefovir

Journal of Research in Medical Sciences, 2015
Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia.
Xiao-Bing Wang, Xiao-Chun Zhu, Xiao-Ying Huang, Wen-Jing Ye, Liang-Xing Wang   +4 more
doaj  

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bogliolo, Massimo, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cadoo, Karen, Caldés, Trinidad, Caleca, Laura, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Catucci, Irene, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figlioli, Gisella, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Kiiski, Johanna I, Lasheras, Sandra Viz, Leslie, Goska, Michailidou, Kyriaki, Muranen, Taru A, Pujol, Roser   +99 more
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Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]

, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne, Bailleux, Anne, Catz, Sergio D, Cherqui, Stephanie, Cheung, Wai W, Gubler, Marie-Claire, Guerrera, Ida Chiara, Lobry, Tatiana, Mak, Robert H, Miller, Roy, Montier, Tristan, Moore, Fiona, Nevo, Nathalie, Pouly, Daniel, Rocca, Celine J, Thomas, Lucie, Zhang, Jinzhong   +16 more
core  

Fanconi Anemia in Portugal: retrospective study of 34 years of investigation at National Health Institute (1980-2014) [PDF]

, 2016
A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA.
Ambrósio, Ana Paula, Correia, Hildeberto, Furtado, José Manuel, Silva, Maria do Céu, Silva, Neuza, Ventura, Catarina, Viegas, Mónica   +6 more
core  

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Tenofovir Disoproxil Fumarate-Associated Fanconi Syndrome in an Human Immunodeficiency Virus (HIV)-Uninfected Man Receiving HIV Pre-Exposure Prophylaxis. [PDF]

, 2017
Corado, Katya, Dube, Michael P, Funk, Connie A, Khan, Soheb, Morris, Sheldon   +4 more
core   +2 more sources

Fanconi's Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1964
M I Lavelle, T Parkinson
openaire   +1 more source

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation [PDF]

, 2016
Imad Mohammad Dweikat, Issa Shaher Alawneh, Mutaz Idrees Sultan, Sami Fares Bahar   +3 more
core   +1 more source