Results 61 to 70 of about 1,021,105 (352)
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 +4 more
wiley +1 more source
Acta Dermato-Venereologica, 2018 Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra +11 more
doaj +1 more source
Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1) [PDF]
, 2014 Whole exome sequencing is a technique that aims to selectively sequence all exons of protein-coding genes. A canine whole exome sequencing enrichment kit was designed based on the latest canine reference genome (build 3.1.72).
Bavegems, Valérie +7 more
core +2 more sources
Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants [PDF]
Genomics & Informatics, 2015 Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields ...
Kyung Kim +9 more
doaj +1 more source
Journal of the American Medical Association (JAMA), 2020 Importance Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems.
S. Lunke +65 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath +13 more
wiley +1 more source
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]
, 2019 Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D +4 more
core +3 more sources
Molecular Oncology, EarlyView.This study characterizes the responses of primary acute myeloid leukemia (AML) patient samples to the MCL‐1 inhibitor MIK665. The results revealed that monocytic differentiation is associated with MIK665 sensitivity. Conversely, elevated ABCB1 expression is a potential biomarker of resistance to the treatment, which can be overcome by the combination ...
Joseph Saad +17 more
wiley +1 more source
BMC Genomics, 2022 Exome sequencing is becoming a routine in health care, because it increases the chance of pinpointing the genetic cause of an individual patient's condition and thus making an accurate diagnosis.
Vera Belova +8 more
doaj +1 more source