Results 81 to 90 of about 390,058 (293)

Prevalence of clinically actionable disease variants in exceptionally long-lived families

BMC Medical Genomics, 2020
Background Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear. Methods We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in ...
Paige Carlson, Mary K. Wojczynski, Todd Druley, Joseph H. Lee, Joseph M. Zmuda, Bharat Thyagarajan   +5 more
doaj   +1 more source

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source

Severe Osteoporosis With Pathogenic LRP5 Variant

JCEM Case Reports
Abstract A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema.
Felicity Stringer, Natalie A Sims, Nirupa Sachithanandan, Jasna Aleksova   +3 more
openaire   +3 more sources

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

Genetics in Medicine, 2020
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting in absent puberty and infertility. The genetic architecture is complex with multiple loci involved, variable expressivity, and incomplete penetrance. The majority of cases are sporadic, consistent with a disease affecting fertility.
Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Niederländer, Nicolas J, Rademaker, Jesse D, Meylan, Jenny, Messina, Andrea, Kolesinska, Zofia, Quinton, Richard, Lang-Muritano, Mariarosaria, Bartholdi, Deborah, Halperin, Irene, De Geyter, Christian, Bouligand, Jérôme, Bartoloni, Lucia, Young, Jacques, Santoni, Federico A, Pitteloud, Nelly   +17 more
openaire   +3 more sources

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Identification of the long polar fimbriae gene variants in the locus of enterocyte effacement-negative Shiga toxin-producing Escherichia coli strains isolated from humans and cattle in Argentina [PDF]

, 2010
The long polar fimbriae (Lpf) is one of few adhesive factors of Shiga toxin-producing Escherichia coli (STEC) and it is associated with colonization of the intestine. Studies have demonstrated the presence of lpf genes in several pathogenic E.
Galli, Lucía, Rivas, Marta, Torres, Alfredo G.   +2 more
core   +2 more sources

Pathogenic TERT promoter variants in telomere diseases [PDF]

Genetics in Medicine, 2019
The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes.We screened patients with a broad spectrum of telomeropathies (n = 136 ...
Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S., Pinto, André, Vicente, Alana, Dillon, Laura W., Clé, Diego V., Santana, Barbara A., Pirooznia, Mehdi, Ibanez, Maria del Pilar F., Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., Young, Neal S.   +14 more
openaire   +2 more sources

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, EarlyView.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers [PDF]

, 2016
Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer.
Agnarsson, Bjarni A., Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Bandera, Elisa V., Banerjee, Susana, Barile, Monica, Barrowdale, Daniel, Beckman, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Berchuck, Andrew, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Campbell, Ian G., Cannioto, Rikki, Castillo, Danielle, Chan, Salina B., Chang-Claude, Jenny, Chenevix-Trench, Georgia, Claes, Kathleen B. M., Collavoli, Anita, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dunning, Alison M., Dörk, Thilo, Easton, Douglas F., Eccles, Diana M., Ellis, Steve, Eunjung, Lee, Fasching, Peter A., Feng, Bingjian, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Ganz, Patricia N., Gao, Yu-Tang, Garber, Judy, García-Closas, Montserrat, Gayther, Simon, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven N., Healey, Sue, Heitz, Florian, Henderson, Brian E., Henriksson, Karin, Hildebrant, Michelle A. T., Hogdall, Claus, Hogdall, Estrid, Hogervorst, Frans B. L., Hopper, John L., Hosono, Satoyo, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allen, John, Esther M., Johnson, Nichola, Jones, Michael, Kabisch, Maria, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Konstantopoulou, Irene, Koppert, Linetta B., Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Le, Nhu, Lester, Jenny, Levine, Douglas, Li, Jingmei, Liang, Dong, Lindblom, Annika, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Mai, Phuong L., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McNeish, Iain, Meeks, Huong D., Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Milne, Roger L., Modugno, Francesmary, Moes-Sosnowska, Joanna, Montagna, Marco, Monteiro, Alvaro N. A., Moysich, Kirsten B., Narod, Steven, Nathanson, Katherine L., Ness, Roberta, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Oliani, Cristina, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Osorio, Ana, Park, Sue K., Pasini, Barbara J., Pearce, Leigh, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Peterlongo, Paolo, Pharoah, Paul D. P., Phelan, Catherine M., Piedmonte, Marion, Poole, Elizabeth M., Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rappaport-Feurhauser, Christine, Rennert, Gad, Riboli, Elio, Risch, Harvey, Robson, Mark, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen, Schmidt, Marjanka K., Schoemaker, Minouk J., Segura, Pedro Perez, Senter, Leigha, Shah, Mitul, Shimelis, Hermela, Siddiquil, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Tesoriero, Andrea, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Tollenaar, Robert A. E. M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tworoger, Shelley S., van der Ouweland, Ans M. W., Van Maerken, Tom, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittermore, Alice S., Winqvist, Robert, Woo, Yin Ling, Wu, Anna, Yoon, Sook-Yee, Zheng, Wei, Öfverholm, Anna   +252 more
core   +1 more source

Outcomes of SDHB Pathogenic Variant Carriers

The Journal of Clinical Endocrinology & Metabolism
Abstract Context Carriers of germline pathogenic variants (PVs) in succinate dehydrogenase type B (SDHB) are at increased risk of developing pheochromocytomas and paragangliomas (PPGLs). Understanding their outcomes can guide recommendations for risk assessment and early detection.
Dahlia F Davidoff, Richard De Abreu Lourenco, Venessa H M Tsang, Diana E Benn, Roderick J Clifton-Bligh   +4 more
openaire   +2 more sources