Results 31 to 40 of about 90,557 (301)

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

Clinical implications of the molecular biology of prostate cancer: Review article

Revista de la Facultad de Medicina Humana, 2022
To understand the term genomic heterogeneity in prostate cancer, we must understand the clonal genomic evolution of cancer, as well as knowing that it is a dynamic and evolutionary phenomenon.
María del Carmen Castro-Mujica
doaj   +1 more source

Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene

Stem Cell Research, 2023
The DEPDC5 gene (OMIM 614191) has been proven to be a frequent cause of familial and sporadic focal epilepsy. A human induced pluripotent stem cell (iPSC) line was generated from a child diagnosed with focal epilepsy, which was caused by DEDPC5 mutation.
Mengxiao Shen, Shiqi Fan, Fan Wu, Peidi Cheng, Yanyan Gao, Ping Zheng, Shuo Feng, Xinna Ji, Qian Chen, Xue Zhang   +9 more
doaj   +1 more source

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

Generation of a human iPSC line ZZUNEUi015-A from a patient with hypertrophic cardiomyopathy caused by mutation in ALPK3

Stem Cell Research, 2021
Hypertrophic cardiomyopathy is the commonest monogenic cardiomyopathy in humans and was reported to be associated with ALPK3 gene mutation. We report the generation and characterization of the human induced pluripotent stem cell (iPSC) line ZZUNEUi015-A,
Xiaoxu Tian, Wanrong Fu, Guangli Guo, Shujian Huang, Yiming Dong, Xiaowei Li, Jianzeng Dong, Xiaoyan Zhao, Yanzhou Zhang   +8 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

Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease

Stem Cell Research, 2020
We established a human induced pluripotent stem cells (hiPSC) line (MPIi006-A) from fibroblasts of a 20-year-old male Pelizaeus-Merzbacher disease (PMD) patient with a hemizygous 643C>T mutation in proteolipid protein 1 (PLP1) gene using a retroviral ...
Kee-Pyo Kim, Juyong Yoon, Borami Shin, Albrecht Röpke, Dong Wook Han, Hans R. Schöler   +5 more
doaj   +1 more source

Defending the genome from the enemy within:mechanisms of retrotransposon suppression in the mouse germline [PDF]

, 2013
The viability of any species requires that the genome is kept stable as it is transmitted from generation to generation by the germ cells. One of the challenges to transgenerational genome stability is the potential mutagenic activity of transposable ...
Richard R. Meehan, Dunican, Donncha S; id_orcid, Meehan, Richard, Ian R. Adams, Marie MacLennan, James H. Crichton, Crichton, James H, Maclennan, Marie, Adams, Ian R, Donncha S. Dunican   +9 more
core   +1 more source

Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer's disease

Stem Cell Research, 2018
An amyloid precursor protein (APP) A673T mutation was found to be protective against Alzheimer's disease (AD) and cognitive decline in the Icelandic population and to associate with decreased levels of plasma β-amyloid in a Finnish population-based ...
Šárka Lehtonen, Ida Höytyläinen, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H. Hämäläinen, Minna Oksanen, Jari Koistinaho   +8 more
doaj   +1 more source

Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is a heart disorder caused by a loss-of-function mutation in the KCNH2 gene that is an essential factor in cardiac repolarization and affects the heart rate. This study has generated a human-induced stem cell line (KSCBi014-
Youngsun Lee, Soo Kyung Koo, Jung-Hyun Kim   +2 more
doaj   +1 more source