Results 21 to 30 of about 132,731 (277)

Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair.

PLoS ONE, 2008
Microsatellite instability promotes colonic tumorigenesis through generating frameshift mutations at coding microsatellites of tumor suppressor genes, such as TGFBR2 and ACVR2.
Heekyung Chung, Dennis J Young, Claudia G Lopez, Thuy-Anh T Le, Jeffrey K Lee, Deena Ream-Robinson, Sherry C Huang, John M Carethers   +7 more
doaj   +1 more source

Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report

BMC Pediatrics, 2022
Background Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA).
Yumei Zu, Hui Wang, Weijia Lin, Chaochun Zou   +3 more
doaj   +1 more source

The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR [PDF]

, 2019
1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB).
Biebermann, Heike, Grüters-Kieslich, Annette, Kalveram, Laura, Kleinau, Gunnar, Rivero-Müller, Adolfo, Scheerer, Patrick, Szymańska, Kamila   +6 more
core   +1 more source

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3

Respiratory Medicine Case Reports, 2018
Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP–binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and death within the first year of life without lung transplantation.
P. El Boustany, R. Epaud, C. Grosse, F. Barriere, E. Grimont-Rolland, A. Carsin, J.C. Dubus   +6 more
doaj   +1 more source

Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]

, 2016
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai, Jablons, David M, Jen, Kuang-Yu, Jones, Kirk, Kang, Hio Chung, Kim, Hong Kwan, Kim, Il-Jin, Kim, James Wansoo, Lee, Sharon, Mendez, Pedro, Woodard, Gavitt, Yoon, Jun-Hee   +11 more
core   +3 more sources

Secondary somatic mutations restoring RAD51C and RAD51D associated with acquired resistance to the PARP inhibitor rucaparib in high-grade ovarian carcinoma [PDF]

, 2017
High-grade epithelial ovarian carcinomas (OC) containing mutated BRCA1 or BRCA2 (BRCA1/2) homologous recombination (HR) genes are sensitive to platinum-based chemotherapy and poly(ADP-ribose) polymerase inhibitors (PARPi), while restoration of HR ...
Barker, Holly, Bernstein, Kara A., Botwell, David D.L., Brunette, Gregory J., Coleman, Robert L., Floquet, Anna, Friedlander, Michael, Giordano, Heidi, Harding, Thomas C., Harrell, Maria I., Ho, Gwo-Yaw, Jasin, Maria, Kass, Elizabeth M., Kaufmann, Scott H., Kichenadasse, Ganessan, Kondrashova, Olga, Kuiper, Michael J., Lin, Kevin K., Maloney, Lara, McNeish, Iain A., Nguyen, Minh, O'Malley, David M., Oza, Amit M., Prakash, Rohit, Raponi, Mitch, Robillard, Liliane, Scott, Clare L., Shield-Artin, Kirsty, Simmons, Andrew D., Sullivan, Meghan R., Sun, James X., Swisher, Elizabeth M., Teng, Nelson N.H., Tinker, Anna V., Wakefield, Matthew J.   +34 more
core   +1 more source

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +3 more sources

MMuFLR: missense mutation and frameshift location reporter [PDF]

Bioinformatics, 2013
Abstract Motivation: Cancer researchers seeking immunotherapy targets in cancer cells need tools to locate highly expressed proteins unique to cancer cells. Missense mutation and frameshift location reporter (MMuFLR), a Galaxy-based workflow, analyzes next-generation sequencing paired read RNA-seq output to reliably identify small ...
Susan K, Rathe, James E, Johnson, Kevin A T, Silverstein, Jesse J, Erdmann, Adrienne L, Watson, Flavia E, Popescu, John R, Ohlfest, David A, Largaespada   +7 more
openaire   +2 more sources

GSNgene frameshift mutations in Alzheimer’s disease

Journal of Neurology, Neurosurgery & Psychiatry, 2023
BackgroundThe pathogenic missense mutations of the gelsolin (GSN) gene lead to familial amyloidosis of the Finnish type (FAF); however, our previous study identifiedGSNframeshift mutations existed in patients with Alzheimer’s disease (AD). TheGSNgenotype–phenotype heterogeneity and the role ofGSNframeshift mutations in patients with AD are unclear ...
Yaling Jiang, Meidan Wan, XueWen Xiao, Zhuojie Lin, Xixi Liu, Yafang Zhou, Xinxin Liao, Jingyi Lin, Hui Zhou, Lu Zhou, Ling Weng, Junling Wang, Jifeng Guo, Hong Jiang, Zhuohua Zhang, Kun Xia, Jiada Li, Beisha Tang, Bin Jiao, Lu Shen   +19 more
openaire   +2 more sources