Results 41 to 50 of about 106,718 (217)
Unexpected perinatal death caused by an occult MTM1 mutation: a case report
Frontiers in MedicineBackgroundGenetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed.
Man-Man Zhu +11 more
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Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
npj Genomic Medicine, 2017 Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing.
Deborah Schofield +12 more
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Whole-exome sequencing of a pedigree segregating asthma
BMC Medical Genetics, 2012 Background Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered.
DeWan Andrew T +6 more
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Advanced Science, EarlyView.This study presents a single‐cell atlas of pseudomyxoma peritonei spanning primary and paired metastatic lesions. Distinct epithelial substates, stromal remodeling, immune exclusion, lipid metabolic reprogramming, and a candidate angiogenic network were identified in metastatic lesions.
Xi Li +14 more
wiley +1 more source
Gene Analysis for the Sudden Death of Hypertrophic Cardiomyopathy by Whole Exome Sequencing [PDF]
Fayixue Zazhi, 2017 Objective To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy （HCM） on whole exome level. Methods Whole exome sequencing （WES） was been performed on a sudden death case sample with pathological features of
XU CHUAN-CHAO, BAI YUN-ZHI, XU XIN-SHU, ET AL.
doaj +1 more source
Advanced Science, EarlyView.This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu +10 more
wiley +1 more source
Whole exome sequencing enhances diagnosis of hereditary bronchiectasis
Orphanet Journal of Rare DiseasesBackground Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services
Wangji Zhou +17 more
doaj +1 more source
Advanced Science, EarlyView.This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo +17 more
wiley +1 more source
Advanced Science, EarlyView.Computational simulations of tumor evolution are increasingly used to infer the rules underlying cancer growth, with the goal of one day recommending tailored treatments. Here we show that the properties of lung cancer sequencing data are best replicated by a model which assumes that cells compete both to proliferate and survive. ABSTRACT Computational
Helena Coggan +5 more
wiley +1 more source
Whole Exome Sequencing of Chronic Myeloid Leukemia Patients
Iranian Journal of Public Health, 2016 Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals.
Shaghayegh SABRI +2 more
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