Results 41 to 50 of about 178,485 (305)
SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes
Frontiers in Genetics, 2020 Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing +7 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 +21 more
core +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
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
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
Diagnostic value of partial exome sequencing in developmental disorders. [PDF]
PLoS ONE, 2018 Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon +19 more
doaj +1 more source
Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia
Frontiers in Genetics, 2022 Background: Non-obstructive azoospermia (NOA) affects nearly 1% of men; however, the landscape of the causative genes is largely unknown.Objective: To explore the genetic etiology which is the fundamental cause of NOA, a prospective case-control study ...
Hongguo Zhang +9 more
doaj +1 more source
Effect of chemotherapy on passenger mutations in metastatic colorectal cancer
Molecular Oncology, EarlyView.Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui +6 more
wiley +1 more source
Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]
, 2017 Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc +6 more
core +2 more sources