Results 41 to 50 of about 135,756 (330)

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

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [PDF]

, 2014
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size ...
A. Nekrutenko, Abu-Amero, Ashley, B. Dickins, B. Rebolledo-Jaramillo, Barritt, Barritt, Bartmann, Cao, Chinnery, D. Blankenberg, del Castillo, Denver, Du, Eichenlaub-Ritter, F. Chiaromonte, Galtier, Goto, Guo, Haag-Liautard, Helgadottir, Hindson, Howell, Howell, I. M. Paul, J. A. McElhoe, Jenuth, K. D. Makova, Kong, Larsson, Li, Li, Lutz, Lynch, M. M. Holland, M. S.-W. Su, Ma, Marchington, Millar, Monnot, N. Stoler, Olivo, Parsons, Prasad, R. Nielsen, Rollins, Seifer, Shu, Sigur  ard  ttir, Simone, T. S. Korneliussen, Tang, Wai, Wallace, Wortmann   +54 more
core   +3 more sources

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., De Gendt, K., Monteiro, A., O'Shaughnessy, P.J., Verhoeven, G.   +4 more
core   +2 more sources

Ethics of modifying the mitochondrial genome [PDF]

, 2010
Recent preclinical studies have shown the feasibility of specific variants of nuclear transfer to prevent mitochondrial DNA disorders. Nuclear transfer could be a valuable reproductive option for carriers of mitochondrial mutations.
Bredenoord, A L, de Wert, G, Dondorp, W, Pennings, Guido   +3 more
core   +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

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome [PDF]

, 2018
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene,
Altieri, Filomena, Bernardini, Laura, DE JACO, Antonella, Della Monica, Matteo, Ferrari, Daniela, Lamorte, Giuseppe, Luigi Vescovi, Angelo, Mazzoccoli, Gianluigi, Nardone, Annamaria, Rosati, Jessica Diana, Torres, Barbara, Turco, ELISA MARIA, Vinci, Ersilia   +12 more
core   +3 more sources

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

Expression of a catalytically inactive mutant form of glutathione peroxidase 4 (Gpx4) confers a dominant-negative effect in male fertility. [PDF]

, 2015
The selenoenzyme Gpx4 is essential for early embryogenesis and cell viability for its unique function to prevent phospholipid oxidation. Recently, the cytosolic form of Gpx4 was identified as an upstream regulator of a novel form of non-apoptotic cell ...
Aichler, M, Angeli, Jp, Buday, K, Conrad, M., Doll, S, Hoffard, N, Ingold, I, Roveri, Antonella, Tasdemir, A, Ursini, Fulvio, Walch, A, Wurst, W, Yefremova, E   +12 more
core   +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