Results 11 to 20 of about 90,557 (301)

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations [PDF]

Acta Neuropathologica, 2014
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1 ...
de Kock, Leanne, Sabbaghian, Nelly, Plourde, François, Srivastava, Archana, Weber, Evan, Bouron-Dal Soglio, Dorothée, Hamel, Nancy, Choi, Joon Hyuk, Park, Sung-Hye, Deal, Cheri L, Kelsey, Megan M, Dishop, Megan K, Esbenshade, Adam, Kuttesch, John F, Jacques, Thomas S, Perry, Arie, Leichter, Heinz, Maeder, Philippe, Brundler, Marie-Anne, Warner, Justin, Neal, James, Zacharin, Margaret, Korbonits, Márta, Cole, Trevor, Traunecker, Heidi, McLean, Thomas W, Rotondo, Fabio, Lepage, Pierre, Albrecht, Steffen, Horvath, Eva, Kovacs, Kalman, Priest, John R, Foulkes, William D   +32 more
openaire   +8 more sources

Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation. [PDF]

Blood Adv, 2017
Key Points The persistence of a CEBPA mutation at the time of complete remission warrants germ line analysis. Not all patients harboring germ line CEBPA mutations have a family history of AML.
Ram J, Flamm G, Balys M, Sivagnanalingam U, Rothberg PG, Iqbal A, Myers JR, Corbett A, Ashton JM, Mendler JH.   +9 more
europepmc   +2 more sources

Within genome variation of germ-line and somatic mutation

, 2017
Variation in the mutation rate along the human genome, if not properly understood and accounted\ud for, has the potential to confound evolutionary studies, produce spurious driver candidates in cancer\ud studies, and hinder the diagnostics aimed at understanding the etiologies of genetic diseases.\ud \ud In this thesis I consider mutation rate ...
Thomas C A Smith (16235117)
core   +2 more sources

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

Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene

Stem Cell Research, 2020
Sertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent ...
Xiaotong Wang, Shiming Xie, Zili Li, Zhen Ye, Xiuli Gu, Liquan Zhou, Honggang Li   +6 more
doaj   +1 more source

Mouse germ line mutations due to retrotransposon insertions [PDF]

Mobile DNA, 2019
Transposable element (TE) insertions are responsible for a significant fraction of spontaneous germ line mutations reported in inbred mouse strains. This major contribution of TEs to the mutational landscape in mouse contrasts with the situation in human, where their relative contribution as germ line insertional mutagens is much lower.
Liane Gagnier, Victoria P. Belancio, Dixie L. Mager   +2 more
openaire   +4 more sources

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