Results 31 to 40 of about 64,503 (262)

Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C)

Stem Cell Research, 2023
CHARGE syndrome (OMIM 214800) is an autosomal dominant disease with coloboma, heart defects, atresia of choanae and retardation of growth and/or development, etc. CHD7 mutation is the major known pathogenic cause in patients with CHARGE syndrome. A human
Ting Peng, Yan Cheng, Man Xiong, Guoqiang Cheng   +3 more
doaj   +1 more source

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

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

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

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

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

Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation

Stem Cell Research, 2023
Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing a premature stop codon which prevents ...
Michał Dębczyński, Damian Mojsak, Serena Tamburro, Simona Baldassari, Ilaria Musante, Rosaria Casciaro, Fabiana Ciciriello, Federico Zara, Paolo Scudieri, Giulia Gorrieri   +9 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 a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T)

Stem Cell Research, 2023
A human induced pluripotent stem cell line (iPSC), FDCHi010-A, was derived from the peripheral blood of a 3-year-old patient with the c.2062C > T (p.R688*) mutation in the AHDC1 gene.
Tingting Yin, Bingbing Wu, Ting Peng, Yunfei Liao, Shuangyun Jiao, Huijun Wang   +5 more
doaj   +1 more source