Results 1 to 10 of about 389,909 (144)

Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women [PDF]

BMC Women's Health
Background Hereditary cancer and associated high risk genetic variants accountable for 5–10% of all breast cancer cases carry a significant burden on the health system and the pathogenic variants carriers. The harm from these factors can be significantly
Natalia Bodunova, Airat Bilyalov, Anastasiia Danishevich, Gurami Kvetenadze, Artem Andronov, Andrey Starshinin, Konstantin Rumyantsev, Ludmila Zhukova, Alexey Khripun, Igor Khatkov   +9 more
doaj   +2 more sources

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines

Frontiers in Aging Neuroscience, 2021
The strategies of classifying APP, PSEN1, and PSEN2 variants varied substantially in the previous studies. We aimed to re-evaluate these variants systematically according to the American college of medical genetics and genomics and the association for ...
Xuewen Xiao, Hui Liu, Xixi Liu, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Sizhe Zhang, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao   +12 more
doaj   +1 more source

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance

Membranes, 2021
(1) Background: Defects in gene CACNA1C, which encodes the pore-forming subunit of the human Cav1.2 channel (hCav1.2), are associated with cardiac disorders such as atrial fibrillation, long QT syndrome, conduction disorders, cardiomyopathies, and ...
Svetlana I. Tarnovskaya, Anna A. Kostareva, Boris S. Zhorov   +2 more
doaj   +1 more source

Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants

Gynecologic Oncology Reports, 2021
Objective: Tumors harboring a POLE pathogenic variant, associated with high tumor mutational burden, are good candidates for immunotherapy. However, POLE pathogenic variants are not currently screened in routine clinical practice.
M.-C. Villy, J. Masliah-Planchon, S. Melaabi, O. Trabelsi Grati, E. Girard, G. Bataillon, A. Vincent-Salomon, J. Le Gall, L. Golmard, D. Stoppa-Lyonnet, I. Bieche, C. Colas   +11 more
doaj   +1 more source

Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

Journal of Ovarian Research, 2023
About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes.
D. S. Prokofyeva, E. T. Mingazheva, Ya. V. Valova, D. D. Sakaeva, R. R. Faishanova, A. Kh. Nurgalieva, R. R. Valiev, N. Bogdanova, T. Dörk, E. K. Khusnutdinova   +9 more
doaj   +1 more source

Frequency of allele variations in the CFTR gene in a Mexican population

BMC Medical Genomics, 2021
Background Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Consuelo Cantú-Reyna, Roberto Galindo-Ramírez, Mercedes Vázquez-Cantú, Lorenza Haddad-Talancón, Willebaldo García-Muñoz   +4 more
doaj   +1 more source

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study

Frontiers in Genetics, 2020
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the occurrence of hamartomatous wounds stemming from the dysfunction of the mammalian target of rapamycin (mTOR) pathway.
Yifeng Ding, Ji Wang, Shuizhen Zhou, Yuanfeng Zhou, Linmei Zhang, Lifei Yu, Yi Wang   +6 more
doaj   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Novel pathogenic variants in CUBN uncouple proteinuria from renal function

Journal of Translational Medicine, 2022
Background Proteinuria is an unfavorable clinical condition highly associated with a risk of renal and cardiovascular disease in chronic kidney disease (CKD).
Chun Gan, Xindi Zhou, Dan Chen, Huan Chi, Jiawen Qiu, Hui You, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li   +10 more
doaj   +1 more source