Results 41 to 50 of about 90,557 (301)

Genetic Mosaics and the Germ Line Lineage

, 2019
Genetic mosaics provide information about cellular lineages that is otherwise difficult to obtain, especially in humans. De novo mutations act as cell markers, allowing the tracing of developmental trajectories of all descendants of the cell in which the
Friedman, J. M. (Jan Marshall), 1947-, Samuels, Mark E.   +1 more
core   +2 more sources

Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.

PLoS ONE, 2012
Triple-negative breast cancer (TNBC) is an aggressive form of breast carcinoma with a poor prognosis. Recent evidence suggests that some patients with TNBC harbour germ-line mutations in DNA repair genes which may render their tumours susceptible to ...
Franziska Pern, Natalia Bogdanova, Peter Schürmann, Min Lin, Aysun Ay, Florian Länger, Peter Hillemanns, Hans Christiansen, Tjoung-Won Park-Simon, Thilo Dörk   +9 more
doaj   +1 more source

Pheochromocytoma in von Hippel-Lindau disease [PDF]

Archive of Oncology, 2003
A 70-year old female was admitted to the hospital because of hypertension increased sweating and weight loss. The hypertension was sustained. Five months before admission CT scan of the abdomen had revealed a well-defined right adrenal mass together with
Petakov Milan, Đurović Marina, Miljić Dragana, Obradović Sandra, Doknić Mirjana, Popović Vera, Damjanović Svetozar S.   +6 more
doaj   +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

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2018
Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare.
Won Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suh   +5 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

Stem Cell Research, 2018
The leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation is the most common genetic cause of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line CSC-41 was generated from a 75-year old patient diagnosed with PD caused by a p.G2019S ...
Ana Marote, Yuriy Pomeshchik, Anna Collin, Stefano Goldwurm, Nuno J. Lamas, Luísa Pinto, António J. Salgado, Laurent Roybon   +7 more
doaj   +1 more source

Nucleoporin98-96 function is required for transit amplification divisions in the germ line of Drosophila melanogaster. [PDF]

PLoS ONE, 2011
Production of specialized cells from precursors depends on a tightly regulated sequence of proliferation and differentiation steps. In the gonad of Drosophila melanogaster, the daughters of germ line stem cells (GSC) go through precisely four rounds of ...
Benjamin B Parrott, Yuting Chiang, Alicia Hudson, Angshuman Sarkar, Antoine Guichet, Cordula Schulz   +5 more
doaj   +1 more source

Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing

Stem Cell Research, 2021
As the most common cause of heart failure, dilated cardiomyopathy (DCM) is characterized by dilated ventricles and weakened contractile force. Mutations in the calcium handling protein phospholamban (PLN) are known to cause inherited DCM.
Robert J. Barndt, Ning Ma, Ying Tang, Michael P. Haugh, Laila S. Alamri, Stephen Y. Chan, Haodi Wu   +6 more
doaj   +1 more source

Effect of FSH on testicular morphology and spermatogenesis in gonadotrophin-deficient hypogonadal mice lacking androgen receptors [PDF]

, 2010
Follicle stimulating hormone (FSH) and androgen act to stimulate and maintain spermatogenesis. FSH acts directly on the Sertoli cells to stimulate germ cell number and acts indirectly to increase androgen production by the Leydig cells.
Abel, M.H., Verhoeven, G., De Gendt, K., Monteiro, A., O'Shaughnessy, P.J.   +4 more
core   +1 more source

BRCA1 and BRCA2 mutations in a population-based study of male breast cancer

, 2001
Background: The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast ...
Bruce AJ Ponder, Julian M Lipscombe, Joanna M Ward, Basham, VM, Easton, DF, Ward, JM, Ponder, BAJ, Victoria M Basham, Simon A Gayther, Paul DP Pharoah, Lipscombe, JM, Douglas F Easton, Pharoah, PDP, Gayther, SA   +13 more
core   +1 more source