Results 71 to 80 of about 122,027 (274)
Signaling Network Assessment of Mutations and Copy Number Variations Predicts Breast Cancer Subtype-specific Drug Targets [PDF]
, 2014 Individual cancer cells carry a bewildering number of distinct genomic alterations i.e., copy number variations and mutations, making it a challenge to uncover genomic-driven mechanisms governing tumorigenesis. Here we performed exome-sequencing on several breast cancer cell lines which represent two subtypes, luminal and basal.
arxiv +1 more source
Frontiers in Genetics, 2019 There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski +7 more
doaj +1 more source
When moments matter: Finding answers with rapid exome sequencing
Molecular Genetics & Genomic Medicine, 2020 Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients.
Zöe Powis +13 more
doaj +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +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
Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez +15 more
wiley +1 more source
Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Annals of Clinical and Translational Neurology, EarlyView.Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz +9 more
wiley +1 more source
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
EMBO Molecular Medicine, 2015 Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL ...
Tommaso Pippucci +19 more
doaj +1 more source
Actionable Exomic Secondary Findings in 280 Lebanese Participants
Frontiers in Genetics, 2020 The expanded use of NGS tests in genetic diagnosis enables the massive generation of data related to each individual, among which some findings are of medical value. Over the last three and a half years, 280 unrelated Lebanese patients, presenting a wide
Nadine Jalkh +2 more
doaj +1 more source