Results 1 to 10 of about 135,756 (330)

Can somatic GATA2 mutation mimic germ line GATA2 mutation? [PDF]

Blood Advances, 2018
Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative ...
Mallika Sekhar, Rachael Pocock, David Lowe, Christopher Mitchell, Teresa Marafioti, Rachel Dickinson, Matthew Collin, Marc Lipman   +7 more
doaj   +8 more sources

Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice. [PDF]

Blood Adv, 2023
Ahmad MH, Hegde M, Wong WJ, Mohammadhosseini M, Garrett L, Carrascoso A, Issac N, Ebert B, Silva JC, Pihan G, Zhu LJ, Wolfe SA, Agarwal A, Liu PP, Castilla LH.   +14 more
europepmc   +2 more sources

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. [PDF]

Genet Med, 2018
Buchanan DD, Stewart JR, Clendenning M, Rosty C, Mahmood K, Pope BJ, Jenkins MA, Hopper JL, Southey MC, Macrae FA, Winship IM, Win AK.   +11 more
europepmc   +3 more sources

Metastatic Castration-Resistant Prostate Cancer with Neuroendocrine Transformation and BRCA 1 Germ-Line Mutation: A Case Report and Literature Review. [PDF]

Onco Targets Ther, 2020
Wu Y, Gao Y, Dou X, Yue J.
europepmc   +3 more sources

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer’s disease iPSC line carrying the London mutation in APP (V717I)

Stem Cell Research, 2021
We report the genome-editing of an existing iPSC line carrying the London mutation in APP (V717I) into an iPSC line in which the pathogenic mutation was corrected.
Damián Hernández, Stephanie Morgan Schlicht, Maciej Daniszewski, Celeste M. Karch, Alison M. Goate, Alice Pébay   +5 more
doaj   +1 more source

An iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia patient carrying c. 1076T > G mutation in the SMOC2 gene

Stem Cell Research, 2021
SMOC2 gene encodes a modular extracellular protein and its mutation causes multiple epiphyseal dysplasia (MED) which characterized by short stature and osteoarthritis.
Feng Long, Xiaolin Liu, Yong Liu, Qiji Liu, Wenjie Sun   +4 more
doaj   +1 more source

Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene

Stem Cell Research, 2021
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 41-year-old male patient with hypertrophic cardiomyopathy who carries a G3755A heterozygote mutation in the MYH6 gene. The generated iPSC line
Lu Wang, Xiaowei Li, Wanrong Fu, Shuai Zhang, Wenting Du, Jing Zhao, Mengduan Liu, Mengyu Wang, Yangyang Liu, Liang Hu, Zhongren Ding, Ling Li, Xiaoyan Zhao, Jianzeng Dong   +13 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (SJTUXHi002-A) from an individual with autism spectrum disorder carrying a heterozygous mutation in GRIA2

Stem Cell Research, 2022
Herein, we report the generation of a human induced pluripotent stem cell (iPSC) line from an autism spectrum disorder (ASD) patient carrying the c.1998delT mutation in GRIA2 gene.
Yong Ji, Hui Lv, Zilin Chen, Juehua Yu, Shuanfeng Fang, Fei Li   +5 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (JSPHi003-A) from a patient with atrial fibrillation and ventricular tachycardia carrying LMNA frame shift mutation (c.1304_1307dup)

Stem Cell Research, 2022
The iPSC line was generated from the peripheral blood mononuclear cells (PBMCs) from a 53-year-old female patient carrying the LMNA gene mutation (c.1304_1307dup) diagnosed with atrial fibrillation and paroxysmal ventricular tachycardia.
Zhiqiao Lin, Hongyi Cheng, Yike Zhang, Bingyu Zheng, Feng Zhang, Yongping Lin, Yue Zhu, Weizhu Ju, Chang Cui, Minglong Chen   +9 more
doaj   +1 more source

Generation of a transgenic mouse embryonic stem cell line expressing Dnmt1Y495C mutation associated with HSAN1E disorder

Stem Cell Research, 2021
DNMT1 Y495C is the most common mutation associated with hereditary sensory and autonomic neuropathy type 1E, and dementia. Here we employed non-homologous recombination and generated a mouse embryonic stem cell line carrying a transgene expressing DNMT1 ...
Sumana Choudhury, K. Naga Mohan
doaj   +1 more source