Results 21 to 30 of about 135,756 (330)

Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS)

Stem Cell Research, 2020
Androgen receptor (AR) is essential for maintaining normal spermatogenesis and male fertility, and its mutation can cause complete or partial androgen insensitivity syndrome (CAIS or PAIS) in patients. We established an induced pluripotent stem cell line
Junqing Chen, Xiaoyu Yang, Bifei Fu, Pinmou Zhu, Yunfei Zhu, Xuejiang Guo, Jiahao Sha, Yan Yuan   +7 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

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

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

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

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   +1 more source

Mainstream Tobacco Smoke Causes Paternal Germ-Line DNA Mutation [PDF]

Cancer Research, 2007
Abstract Despite the presence of known mutagens and carcinogens in cigarette smoke, there is currently no evidence to show that smoking, or exposure to cigarette smoke, can result in heritable genetic mutation. We show that male mice exposed to mainstream tobacco smoke (MTS) exhibit a significant increase in germ-line mutation frequency ...
Carole L, Yauk, M Lynn, Berndt, Andrew, Williams, Andrea, Rowan-Carroll, George R, Douglas, Martin R, Stämpfli   +5 more
openaire   +2 more sources

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene

Stem Cell Research, 2022
Marfan syndrome (MFS) is an autosomal genetic disorder caused by mutation in FBN1 gene, encoding the extracellular matrix protein fibrillin-1. Here, a MFS patient specific iPSC carrying a novel heterozygous mutation (c.7897 T > G) in FBN1 gene was ...
You Yu, Han Shen, Jingze Zhu, Xiangyu Cao, Qian Li, Lianbo Shao, Zhenya Shen   +6 more
doaj   +1 more source

Interpreting the dependence of mutation rates on age and time [PDF]

, 2015
Mutations can arise from the chance misincorporation of nucleotides during DNA replication or from DNA lesions that are not repaired correctly. We introduce a model that relates the source of mutations to their accumulation with cell divisions, providing
Gao, Ziyue, Przeworski, Molly, Sella, Guy, Wyman, Minyoung J.   +3 more
core   +5 more sources

Generation of a human induced pluripotent stem cell line (UEFi003-A) carrying heterozygous A673T variant in amyloid precursor protein associated with a reduced risk of Alzheimer’s disease

Stem Cell Research, 2020
A673T mutation in the amyloid precursor protein (APP) is a rare variant associated with a reduced risk of late-onset Alzheimer‘s disease (AD) and age-related cognitive decline.
Taisia Rolova, Ying-Chieh Wu, Marja Koskuvi, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H. Hämäläinen, Jari Koistinaho, Šárka Lehtonen   +9 more
doaj   +1 more source

Necessidade de novos critérios clínicos para a identificação de famílias com síndroma de Lynch em base genética.

Acta Médica Portuguesa, 2008
Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality.
Rita Sousa, Pedro Lage, Sara Ferreira, Isabel Claro, Inês Francisco, Bruno Filipe, Cristina Albuquerque, Alexandra Suspiro, Paula Rodrigues, Carlos Nobre-Leitão   +9 more
doaj   +1 more source