Results 11 to 20 of about 135,756 (330)

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].
Albrecht, S., Bouron-Dal Soglio, D., Brundler, M.A., Choi, J.H., Cole, T., de Kock, L., Deal, C.L., Dishop, M.K., Esbenshade, A., Foulkes, W.D., Hamel, N., Horvath, E., Jacques, T.S., Kelsey, M.M., Korbonits, M., Kovacs, K., Kuttesch, J.F., Leichter, H., Lepage, P., Maeder, P., McLean, T.W., Neal, J., Park, S.H., Perry, A., Plourde, F., Priest, J.R., Rotondo, F., Sabbaghian, N., Srivastava, A., Traunecker, H., Warner, J., Weber, E., Zacharin, M.   +32 more
core   +7 more sources

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

International Journal of Computational Biology and Drug Design, 2016
YesThe 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
Al-Shammari, Mohamad H., Peng, Yonghong, Tobin, Desmond J.   +2 more
core   +3 more sources

Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1α–Mutated Hepatocellular Adenoma [PDF]

Cancer Research, 2007
Abstract Biallelic somatic mutations of TCF1 coding for hepatocyte nuclear factor 1α (HNF1α) are found in 50% of the hepatocellular adenoma (HCA) cases usually associated with oral contraception. In rare cases, HNF1α germ line mutations could also predispose to familial adenomatosis.
Emmanuelle Jeannot, Karine Poussin, L. Chiche, Yannick Bacq, Nathalie Stürm, Jean‐Yves Scoazec, Catherine Buffet, Jeanne Tran Van Nhieu, Christine Bellanné‐Chantelot, Claudia de Toma, Pierre Laurent‐Puig, Paulette Bioulac‐Sage, Jessica Zucman‐Rossi   +12 more
openalex   +6 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 ...
Hartmut P H, Neumann, Birke, Bausch, Sarah R, McWhinney, Bernhard U, Bender, Oliver, Gimm, Gerlind, Franke, Joerg, Schipper, Joachim, Klisch, Carsten, Altehoefer, Klaus, Zerres, Andrzej, Januszewicz, Charis, Eng, Wendy M, Smith, Robin, Munk, Tanja, Manz, Sven, Glaesker, Thomas W, Apel, Markus, Treier, Martin, Reineke, Martin K, Walz, Cuong, Hoang-Vu, Michael, Brauckhoff, Andreas, Klein-Franke, Peter, Klose, Heinrich, Schmidt, Margarete, Maier-Woelfle, Mariola, Peçzkowska, Cesary, Szmigielski, Charis, Eng   +28 more
openaire   +5 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

Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene

Stem Cell Research, 2020
Sertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent ...
Xiaotong Wang, Shiming Xie, Zili Li, Zhen Ye, Xiuli Gu, Liquan Zhou, Honggang Li   +6 more
doaj   +1 more source

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

The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]

, 2013
Background We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease.
A Hodgkinson, A Hodgkinson, A Kong, Adam Eyre-Walker, B Charlesworth, B Charlesworth, C Park, CJ Pink, CL Chen, FA Kondrashov, G McVicker, H Ellegren, H Huang, I Hellmann, I Hellmann, I. King Jordan, J Maynard Smith, JA Stamatoyannopoulos, JJ Michaelson, KH Wolfe, L Duret, MJ Lercher, MT Maurano, MW Nachman, NG Smith, R Blekhman, RS Hansen, S Tyekucheva, TI Gossmann, Ying Chen Eyre-Walker   +29 more
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Trade-off between somatic and germline repair in a vertebrate supports the "expensive germ line" hypothesis [PDF]

, 2020
The disposable soma theory is a central tenet of the biology of aging where germline immortality comes at the cost of an aging soma [T. B. L. Kirkwood, Nature 270, 301–304 (1977); T. B. L. Kirkwood, Proc. R. Soc. Lond. B Biol. Sci. 205, 531–546 (1979); T.
Bublys, Kasparas, Chen, Hwei-Yen, Immler, Simone, Jolly, Cecile, Marcu, Daniel   +4 more
core   +1 more source

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