Results 1 to 10 of about 64,066 (165)

Germ-line exon 21 EGFR V831H mutation in advanced NSCLC resistance to almonertinib: a case report [PDF]

Frontiers in Oncology
BackgroundGerm-line EGFR mutations are rare, and their clinical significance, particularly regarding response to tyrosine kinase inhibitors (TKIs), remains poorly defined.
Daxia Cai, Jian Lou, Yanyan Zhu, Yonghui Wang   +3 more
doaj   +2 more sources

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

Blood Advances, 2018
Key Points Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative neoplasm.
Mallika Sekhar, Rachael Pocock, David Lowe, Christopher Mitchell, Teresa Marafioti, Rachel Dickinson, Matthew Collin, Marc Lipman   +7 more
doaj   +4 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 [PDF]

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   +4 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

Germ-line and somatic DICER1 mutations in pineoblastoma [PDF]

Acta Neuropathologica, 2014
Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour.
de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S, Gottardo, Nicholas G, Kees, Ursula R, Rednam, Surya P, van Hest, Liselotte P, Jongmans, Marjolijn C, Jhangiani, Shalini, Lupski, James R, Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R, Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G, Foulkes, William D   +23 more
openaire   +6 more sources

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

Understanding Germ-Line Mutations inBRCA1 [PDF]

Cancer Biology & Therapy, 2004
Germ-line mutations in BRCA1 account for the majority of familial breast and ovarian cancer cases and development of cancer in individuals who carry such mutations requires somatic inactivation of the normal allele. BRCA1 is highly polymorphic with more than 1,200 distinct documented variants.
Csilla I, Szabo, Terri, Worley, Alvaro N A, Monteiro   +2 more
openaire   +2 more sources

Germ-Line Mutations in Nonsyndromic Pheochromocytoma

New England Journal of Medicine, 2002
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase ...
Hartmut P H, Neumann, Birke, Bausch, Sarah R, McWhinney, Bernhard U, Bender, Oliver, Gimm, Gerlind, Franke, Joerg, Schipper, Joachim, Klisch, Carsten, Altehoefer, Klaus, Zerres, Andrzej, Januszewicz, Charis, Eng, Wendy M, Smith, Robin, Munk, Tanja, Manz, Sven, Glaesker, Thomas W, Apel, Markus, Treier, Martin, Reineke, Martin K, Walz, Cuong, Hoang-Vu, Michael, Brauckhoff, Andreas, Klein-Franke, Peter, Klose, Heinrich, Schmidt, Margarete, Maier-Woelfle, Mariola, Peçzkowska, Cesary, Szmigielski, Charis, Eng   +28 more
openaire   +5 more sources

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