Results 151 to 160 of about 123,315 (302)

Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations

Journal of Translational Medicine
Background Germline mutations in cancer-predisposition genes are critical for clinical risk assessment and therapeutic decisions in breast cancer, yet large-scale genomic studies and population-specific tools remain limited for Asian populations. Methods
Jinbo Wu, Yaqian Xu, Fei Xie, Liu Yang, Huan Li, Miao Liu, Houpu Yang, Chaobin Wang, Yuan Peng, Yang Yang, Wei Du, Shu Wang   +11 more
doaj   +1 more source

Mutation spectrum of the APC gene in 83 Korean FAP families

, 2017
Familial adenomatous polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. FAP is characterized by polyposis in the large bowel and variable extracolonic manifestations.
김남규
core   +1 more source

Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology

Developmental Dynamics, EarlyView.
Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley   +1 more source

Pedigree-based estimation of germline mutation rates in vertebrates and the evolutionary implication

, 2021
Germline mutations are the fuel for evolution. An accurate estimation of germline mutation rate is important to date the molecular divergence time between related species, to understand the emergence of new genetic diseases, and to assess the effective ...
Bergeron, Lucie Adrienne
core  

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 more
wiley   +1 more source

Germline Mutation [PDF]

, 2020
openaire   +1 more source

PCN95 cost-effectiveness analysis of germline BRCA mutation testing and olaparib treatment in metastatic breast cancer: an evaluation of codependent technologies

, 2019
Objectives: Genetic testing for a germline BRCA mutation in women with HER2-negative metastatic breast cancer (MBC) can guide targeted treatment with PARP inhibitors (e.g.
Tuffaha, H., Tuffaha, H, Scuffham, P, Scuffham, P.   +3 more
core   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Molecular analysis on germline mutation caused by low-dose irradiation

, 2003
Genetic heterogeneity and a low frequency of germline mutation at single-copy gene loci have limited the direct measurement of germline mutation in human populations.
内山 禮子, 東 裕人, 山内 正剛, Azuma, Hiroto, Shimada, Yoshiya, Nishimura, Mayumi, 662870, Yamauchi, Masatake, 藤川 勝義, Kanai, Reiko, 島田 義也, 662866, 西村 まゆみ, 662867, 662864, 662865, Katsuyoshi, Fujikawa, 662862, 662863, 662860, 662871, 662861, 662868, 662869   +23 more
core  

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

, 2010
Background:The germline BRCA2 mutation is associated with increased prostate cancer (PrCa) risk. We have assessed survival in young PrCa cases with a germline mutation in BRCA2 and investigated loss of heterozygosity at BRCA2 in their tumours.Methods:Two
Jhavar, S. G., Osin, P., S M Edwards, C Fisher, Page, E. C., D F Easton, Eeles, R. A., Gehr-Swain, B. N., S Bullock, Forrest, M. S., A R Norman, E C Page, Bullock, S., M Guy, P Osin, Q Hope, Meitz, J., L T O'Brien, Wilkinson, R. A., D G R Evans, Y Barbachano, B N Gehr-Swain, Dearnaley, D. P., Guy, M., D P Dearnaley, A L Hall, Edwards, S. M., Hope, Q., Norman, A. R., O'Brien, L. T., A T Ardern-Jones, A Falconer, S G Jhavar, Falconer, A., Fisher, C., R A Eeles, Hall, A. L., Z Kote-Jarai, R A Wilkinson, null null, J Meitz, Barbachano, Y., Evans, D. G R; id_orcid, M S Forrest, Ardern-Jones, A. T., Easton, D. F., Kote-Jarai, Z.   +46 more
core   +1 more source