Results 31 to 40 of about 135,756 (330)

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 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

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

HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations [PDF]

Bioinformatics, 2014
Abstract Motivation: Identifying somatic changes from tumor and matched normal sequences has become a standard approach in cancer research. More specifically, this requires accurate detection of somatic point mutations with low allele frequencies in impure and heterogeneous cancer samples.
Usuyama, Naoto, Shiraishi, Yuichi, Sato, Yusuke, Kume, Haruki, Homma, Yukio, Ogawa, Seishi, Miyano, Satoru, Imoto, Seiya   +7 more
openaire   +2 more sources

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

Sec6 mutations and the Drosophila exocyst complex [PDF]

, 2005
To allow a detailed analysis of exocyst function in multicellular organisms, we have generated sec6 mutants in Drosophila. We have used these mutations to compare the phenotypes of sec6 and sec5 in the ovary and nervous system, and we find them to be ...
Denef, Natalie, Higashi, Misao E. L., Murthy, Mala, Ranjan, Ravi, Schupbach, Trudi, Schwarz, Thomas L.   +5 more
core   +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

Establishment of pluripotent cell lines from vertebrate species - Present status and future prospects [PDF]

, 1999
Pluripotent embryonic stem (ES) cells are undifferentiated cell lines derived from early embryos and are capable of unlimited undifferentiated proliferation in vitro.
Prelle, Katja, Vassiliev, Ivan M., Vassilieva, Svetlana G., Wobus, Anna M., Wolf, Eckhard   +4 more
core   +1 more source

Acute myeloid leukemia with TP53 germ line mutations [PDF]

Blood, 2016
To the editor: Acute myeloid leukemia (AML) is considered a sporadic disease caused by sequential accumulation of somatically acquired mutations in hematopoietic stem or progenitor cells (HSPCs).
Armin Zebisch, Ridhima Lal, Marian Müller, Karin Lind, Karl Kashofer, Michael Girschikofsky, David Fuchs, Albert Wölfler, Jochen B. Geigl, Heinz Sill   +9 more
openaire   +1 more source