Results 111 to 120 of about 390,058 (293)
Unexpected interfarm transmission dynamics during a highly pathogenic avian influenza epidemic [PDF]
, 2016 Next-generation sequencing technology is now being increasingly applied to study the within- and between-host population dynamics of viruses. However, information on avian influenza virus evolution and transmission during a naturally occurring epidemic ...
Bonfanti, Lebana +12 more
core +1 more source
FEBS Letters, EarlyView.We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee +3 more
wiley +1 more source
Genetic spectrum of retinal dystrophies in Tunisia
Scientific Reports, 2020 We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73
Imen Habibi +7 more
doaj +1 more source
Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples [PDF]
, 2017 Copy number variants (CNVs) conferring risk of schizophrenia present incomplete penetrance, suggesting the existence of second genetic hits. Identification of second hits may help to find genes with rare variants of susceptibility to schizophrenia.
Agra, Santiago +10 more
core +2 more sources
Structural biology of ferritin nanocages
FEBS Letters, EarlyView.Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley +1 more source
Future Science OAPurpose We aimed to identify the pathogenic variants of homologous recombination (HR) genes and analyze the correlation between the pathogenic variants and clinical characteristics in Chinese breast cancer patients.Methods A cohort of 178 breast cancer ...
Zhaoyun Jiang +8 more
doaj +1 more source
Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants [PDF]
, 2016 Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain ...
Aloy, Patrick, 1972- +11 more
core +1 more source
Molecular Oncology, EarlyView.This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian +10 more
wiley +1 more source
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy
BMC Medical GenomicsBackground Pathogenic variants of MYH7, which encodes the beta-myosin heavy chain protein, are major causes of dilated and hypertrophic cardiomyopathy. Methods In this study, we used whole-genome sequencing data to identify MYH7 variants in 397 patients ...
Oc-Hee Kim +7 more
doaj +1 more source
Primary Coenzyme Q10 Deficiency [PDF]
, 2017 open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara +3 more
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