Results 11 to 20 of about 64,503 (262)

Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: A novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma [PDF]

BMC Cancer, 2011
Background A subset of lung cancer patients harbour EGFR somatic mutations in their tumours and are candidates for treatment with EGFR tyrosine kinase inhibitors.
Menéndez Primitiva, Iglesias Fernando, González-Arriaga Patricia, Osorio Fernando G, Pitiot Ana S, Astudillo Aurora, Santamaría Iñigo, Blay Pilar, Centeno Irene, Tardón Adonina, Freije Jose M, Balbín Milagros   +11 more
doaj   +4 more sources

Germ-line and somatic DICER1 mutations in pineoblastoma [PDF]

Acta Neuropathologica, 2014
Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour.
de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S, Gottardo, Nicholas G, Kees, Ursula R, Rednam, Surya P, van Hest, Liselotte P, Jongmans, Marjolijn C, Jhangiani, Shalini, Lupski, James R, Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R, Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G, Foulkes, William D   +23 more
openaire   +6 more sources

Understanding Germ-Line Mutations inBRCA1 [PDF]

Cancer Biology & Therapy, 2004
Germ-line mutations in BRCA1 account for the majority of familial breast and ovarian cancer cases and development of cancer in individuals who carry such mutations requires somatic inactivation of the normal allele. BRCA1 is highly polymorphic with more than 1,200 distinct documented variants.
Csilla I, Szabo, Terri, Worley, Alvaro N A, Monteiro   +2 more
openaire   +2 more sources

Germ-Line Mutations in Nonsyndromic Pheochromocytoma

New England Journal of Medicine, 2002
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase ...
Neumann, H., Bausch, B., McWhinney, SR, Bender, B., Gimm, O, Franke, G, Schipper, J, Klisch, J, Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C, Smith, WM, Munk, R, Manz, T, Glaesker, S, Apel, T., Treier, M, Reineke, M, Walz, M., Hoang-Vu, C, Brauckhoff, M., Klein-Franke, A., Klose, P, Schmidt, H, Maier-Woelfle, M, Peczkowska, M, Cezary Amadeusz Szmigielski, Eng, C   +28 more
openaire   +5 more sources

Mouse germ line mutations due to retrotransposon insertions [PDF]

Mobile DNA, 2019
Transposable element (TE) insertions are responsible for a significant fraction of spontaneous germ line mutations reported in inbred mouse strains. This major contribution of TEs to the mutational landscape in mouse contrasts with the situation in human, where their relative contribution as germ line insertional mutagens is much lower.
Liane Gagnier, Victoria P. Belancio, Dixie L. Mager   +2 more
openaire   +4 more sources

Establishment of a human induced pluripotent stem cell line, KSCBi015-A, from a long QT syndrome type 1 patient harboring a KCNQ1 mutation

Stem Cell Research, 2021
Long QT syndrome type 1 (LQT1) is a genetic cardiac disorder caused by a loss-of-function mutation in the KCNQ1 gene. In this study, we generated a human induced stem cell line (KSCBi015-A) from an LQT1 patient with a heterozygous mutation located in the
Youngsun Lee, Hyeyeon Park, Soo Kyung Koo, Jung-Hyun Kim   +3 more
doaj   +1 more source

Establishment and characterization of a human embryonic stem cell line carrying a heterozygous GATA4T280M mutation

Stem Cell Research, 2021
Heterozygous T280M mutation in the GATA4 gene, encoding GATA binding protein 4, was recently identified in patients with congenital heart disease (CHD).
Lingqun Ye, You Yu, Yong Wang, Ying Huang, Miao Yu, Wei Lei, Jun-Ming Tang, Shijun Hu   +7 more
doaj   +1 more source

Germ line mutations associated with leukemias [PDF]

Hematology, 2016
AbstractSeveral genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes.
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

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