Results 21 to 30 of about 64,503 (262)

Phenocopies in melanoma-prone families with germ-line CDKN2A mutations [PDF]

Genetics in Medicine, 2018
Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations.Swedish and US melanoma-prone families with CDKN2A mutations were included.
Hildur, Helgadottir, Håkan, Olsson, Margaret A, Tucker, Xiaohong R, Yang, Veronica, Höiom, Alisa M, Goldstein   +5 more
openaire   +2 more sources

Generation of a human induced pluripotent stem cell line (UEFi003-A) carrying heterozygous A673T variant in amyloid precursor protein associated with a reduced risk of Alzheimer’s disease

Stem Cell Research, 2020
A673T mutation in the amyloid precursor protein (APP) is a rare variant associated with a reduced risk of late-onset Alzheimer‘s disease (AD) and age-related cognitive decline.
Taisia Rolova, Ying-Chieh Wu, Marja Koskuvi, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H. Hämäläinen, Jari Koistinaho, Šárka Lehtonen   +9 more
doaj   +1 more source

Necessidade de novos critérios clínicos para a identificação de famílias com síndroma de Lynch em base genética.

Acta Médica Portuguesa, 2008
Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality.
Rita Sousa, Pedro Lage, Sara Ferreira, Isabel Claro, Inês Francisco, Bruno Filipe, Cristina Albuquerque, Alexandra Suspiro, Paula Rodrigues, Carlos Nobre-Leitão   +9 more
doaj   +1 more source

Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L

Stem Cell Research, 2020
Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) is a dominantly inherited cardiomyopathy caused by the mutation TMEM43-p.S358L. An induced pluripotent stem cell (iPSC) line (HDZi001-A) from an adult male mutation carrier was generated ...
Sandra Ratnavadivel, Marcelo Szymanski de Toledo, Torsten Bloch Rasmussen, Tomo Šarić, Jan Gummert, Martin Zenke, Hendrik Milting   +6 more
doaj   +1 more source

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene

Stem Cell Research, 2022
Marfan syndrome (MFS) is an autosomal genetic disorder caused by mutation in FBN1 gene, encoding the extracellular matrix protein fibrillin-1. Here, a MFS patient specific iPSC carrying a novel heterozygous mutation (c.7897 T > G) in FBN1 gene was ...
You Yu, Han Shen, Jingze Zhu, Xiangyu Cao, Qian Li, Lianbo Shao, Zhenya Shen   +6 more
doaj   +1 more source

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Cancer Medicine, 2018
The prevalence of germ line mutations in non‐BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting.
Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen   +44 more
doaj   +1 more source

Generation and characterization of iPS cell line (CTGUi001-A) from skin fibroblasts of a patient with Fabry disease

Stem Cell Research, 2023
We have generated an iPSCs line (CTGUi001-A) from dermal fibroblasts of a 16-year-old male Fabry disease patient with a novel GLA gene mutation (c.156C > A) using Sendai virus encoding the four Yamanaka factors OCT4, SOX2, KLF4, and c-MYC. The CTGUi001-A
Yu Qin, Jing-qiong Zhan, Cui-jiao Ma, Chun-yu Cao, Yuan Zhang, Yuan-ting Min, Ya-feng Lv   +6 more
doaj   +1 more source

Biochemical and Functional Characterization of Germ Line KRAS Mutations [PDF]

Molecular and Cellular Biology, 2007
Germ line missense mutations in HRAS and KRAS and in genes encoding molecules that function up- or downstream of Ras in cellular signaling networks cause a group of related developmental disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome. We performed detailed biochemical and functional studies of three mutant
Schubbert, S., Bollag, Gideon, Lyubynska, Natalya, Nguyen, H., Kratz, Christian Peter, Zenker, Martin, Niemeyer, Charlotte Marie, Molven, A., Shannon, Kevin M.   +8 more
openaire   +3 more sources

Systematic associations between germ-line mutations and human cancers [PDF]

International Journal of Computational Biology and Drug Design, 2016
The revolution in Big Data has opened the gate for new research challenges in biomedical science. The aim of this study was to investigate whether germ-line gene mutations are a significant factor in 29 major primary human cancers. Using data obtained from multiple biological databases, we identified 424 genes from 8879 cancer mutation records.
Mohammad Alshammari, Desmond J. Tobin, Yonghong Peng   +2 more
openaire   +2 more sources

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations [PDF]

Acta Neuropathologica, 2014
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1 ...
de Kock, Leanne, Sabbaghian, Nelly, Plourde, François, Srivastava, Archana, Weber, Evan, Bouron-Dal Soglio, Dorothée, Hamel, Nancy, Choi, Joon Hyuk, Park, Sung-Hye, Deal, Cheri L, Kelsey, Megan M, Dishop, Megan K, Esbenshade, Adam, Kuttesch, John F, Jacques, Thomas S, Perry, Arie, Leichter, Heinz, Maeder, Philippe, Brundler, Marie-Anne, Warner, Justin, Neal, James, Zacharin, Margaret, Korbonits, Márta, Cole, Trevor, Traunecker, Heidi, McLean, Thomas W, Rotondo, Fabio, Lepage, Pierre, Albrecht, Steffen, Horvath, Eva, Kovacs, Kalman, Priest, John R, Foulkes, William D   +32 more
openaire   +6 more sources