Results 71 to 80 of about 1,253,541 (298)

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Journal of Cardiovascular Development and Disease, 2022
(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in ...
Dominik Sebastian Westphal, Kathrin Pollmann, Christoph Marschall, Annette Wacker-Gussmann, Renate Oberhoffer-Fritz, Karl-Ludwig Laugwitz, Peter Ewert, Cordula Maria Wolf   +7 more
doaj   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia

Molecular Genetics & Genomic Medicine
Background This study aimed to investigate the association between genetic variants of ERAP1 (OMIM: 606832) and psoriasis vulgaris (PsV) susceptibility in Inner Mongolia Han nationality.
Xin Li, Jia Bao, Liya Ai, Fan‐Rui Yang, Bo Yu, Yan‐Ping Huang, Na Li, Wen‐Yuan Ding, Zhi‐Qiang Sun, Xin‐Xiang Lv, Jian‐Wen Han   +10 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Phenome-wide association study on miRNA-related sequence variants: the UK Biobank

Human Genomics, 2023
Background Genetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. However, the importance of variants in the non-coding region, such as microRNAs (miRNAs), remain to be elucidated.
Rima Mustafa, Mohsen Ghanbari, Ville Karhunen, Marina Evangelou, Abbas Dehghan   +4 more
doaj   +1 more source

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

Frontiers in Genetics, 2021
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow.
Vasily E. Ramensky, Vasily E. Ramensky, Alexandra I. Ershova, Marija Zaicenoka, Anna V. Kiseleva, Anastasia A. Zharikova, Anastasia A. Zharikova, Yuri V. Vyatkin, Yuri V. Vyatkin, Evgeniia A. Sotnikova, Irina A. Efimova, Mikhail G. Divashuk, Mikhail G. Divashuk, Olga V. Kurilova, Olga P. Skirko, Galina A. Muromtseva, Olga A. Belova, Svetlana A. Rachkova, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina   +21 more
doaj   +1 more source

Carboplatin/taxane-induced gastrointestinal toxicity: a pharmacogenomics study on the SCOTROC1 trial [PDF]

, 2016
Carboplatin/taxane combination is first-line therapy for ovarian cancer. However, patients can encounter treatment delays, impaired quality of life, even death because of chemotherapy-induced gastrointestinal (GI) toxicity.
Brown, R., Glass, S., He, Y.J., Hoskins, J.M., McLeod, H.L., Motsinger-Reif, A., Paul, J., Winham, S.J.   +7 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Unraveling the impact of genetic variants. [PDF]

Elife
Experiments in mice reveal how three rare mutations in a gene called TRIO can lead to different neurodevelopmental outcomes.
Herring B.
europepmc   +4 more sources

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. [PDF]

, 2019
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci
Asrani, Kripa, Marini, Nicholas J, Rine, Jasper, Shaw, Gary M, Yang, Wei   +4 more
core   +2 more sources