Results 41 to 50 of about 237,110 (353)

Somatic mutations render human exome and pathogen DNA more similar

, 2019
Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific mutational ...
Cristescu, Razvan, Ebrahimzadeh, Ehsan, Engler, Maggie, Tchamkerten, Aslan, Tse, David   +4 more
core   +1 more source

Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres [PDF]

, 2019
Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings.
De Baere, Elfride, Devisch, Ignaas, Mertes, Heidi, Moerenhout, Tania, Saelaert, Marlies   +4 more
core   +2 more sources

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Frontiers in Endocrinology, 2023
Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes.
Herodes Guzman, Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Winnie Sigal, Katherine Lord, Katherine Lord, Diva D. De Leon, Diva D. De Leon, Nadia Merchant, Nadia Merchant, Rebecca Ganetzky, Rebecca Ganetzky   +18 more
doaj   +1 more source

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]

, 2013
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan, Borgida, Ayelet E, Gallinger, Steven, Grant, Robert C, Holter, Spring, Kanji, Zaheer S, McPherson, John D, McPherson, Treasa, Peltekova, Vanya, Serra, Stefano, Stein, Lincoln D, Trinh, Quang M, Whelan, Emily   +12 more
core   +3 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Potential Candidate Gene and Underlying Molecular Mechanism Involving in Tumorigenesis of Endometriosis-Associated Ovarian Cancer (EAOC) in Asian Populations

Medical Sciences Forum, 2023
Molecular aberrations in endometriosis were known to be associated with an increased risk of epithelial ovarian cancer (EOCs), especially endometrioid ovarian cancer (EnOC) and ovarian clear cell carcinoma (OCCC).
Rut Christine Inggriani, Che-Chang Chang, Wei-Chung Yang   +2 more
doaj   +1 more source

Frequent mutation of receptor protein tyrosine phosphatases provides a mechanism for STAT3 hyperactivation in head and neck cancer [PDF]

, 2014
The underpinnings of STAT3 hyperphosphorylation resulting in enhanced signaling and cancer progression are incompletely understood. Loss-of-function mutations of enzymes that dephosphorylate STAT3, such as receptor protein tyrosine phosphatases, which ...
Bahar, Ivet, Du, Yu, Garraway, Levi A., General, Ignacio, Gilbert, Breean R., Grandis, Jennifer R., Hammerman, Peter S., Hritz, Jozef, Johnson, Daniel E., Ju, Zhenlin, Li, Hua, Lu, Yiling, Lui, Vivian Wai Yan, Mills, Gordon B., Ng, Patrick Kwok-Shing, Pendleton, Kelsey P., Peyser, Noah D., Vries, John K., Wang, Lin, Wang, Zhenghe, Xiao, Xiao, Zeng, Yan   +21 more
core   +1 more source

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

Frontiers in Plant Science, 2017
Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj   +1 more source

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing. [PDF]

, 2012
Background. Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a human papillomavirus- (HPV-)positive and an HPV-negative head and neck ...
Barrett, John W, Basmaji, John, Boutros, Paul, Chan-Seng-Yue, Michelle, Dhaliwal, Sandeep, Dowthwaite, Samuel, Franklin, Jason H, Fung, Kevin, Koropatnick, James, Kwan, Keith, Lambin, Philippe, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Szeto, Christopher CT, Todorovic, Biljana, Wehrli, Bret, Xu, Wei, Yoo, John   +19 more
core   +3 more sources

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources