The presence of resistance‐associated mutations in reverse transcriptase gene is associated with cerebrospinal fluid HIV‐1 escape: A multicentric retrospective analysis
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Virology"
DOI: 10.1002/jmv.28704
Abstract: Higher risk of cerebrospinal fluid escape (CVE) has been associated with the use of specific antiretroviral (ARV) classes, such as protease inhibitors. We assessed whether archived resistance‐associated mutations (RAMs) can mediate this relationship by identifying… read more here.
Keywords: associated mutations; reverse transcriptase; presence; cerebrospinal fluid ... See more keywords
In silico screening of cancer-associated mutations in the HSA domain of BRG1 and its role in affecting the Arp-HSA sub-complex of SWI/SNF.
Sign Up to like & getrecommendations! Published in 2018 at "Computational biology and chemistry"
DOI: 10.1016/j.compbiolchem.2018.07.001
Abstract: SWI/SNF (SWItch/Sucrose Non-Fermentable) complexes regulate the gene expression programs by remodeling the nucleosome architecture of the chromatin functional elements. These large multi-component complexes comprise eight or more subunits and are conserved from yeast to human.… read more here.
Keywords: hsa domain; arp hsa; cancer associated; cancer ... See more keywords
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmology"
DOI: 10.1016/j.ophtha.2017.12.013
Abstract: Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults… read more here.
Keywords: mutations cep290; clinical phenotype; leber congenital; congenital amaurosis ... See more keywords
HIV-1 gp41 genetic diversity and enfuvirtide resistance-associated mutations among enfuvirtide-naïve patients in southern China.
Sign Up to like & getrecommendations! Published in 2020 at "Virus research"
DOI: 10.1016/j.virusres.2020.198215
Abstract: BACKGROUND Human immunodeficiency virus (HIV) increasing molecular diversity and emergence of drug resistant mutants remain a major concern in China. Enfuvirtide (ENF/T-20) is the first entry inhibitor used in patients failing highly active antiretroviral therapy… read more here.
Keywords: diversity; southern china; resistance; resistance associated ... See more keywords
Prevalence and dynamics of clonal hematopoiesis caused by leukemia-associated mutations in elderly individuals without hematologic disorders
Sign Up to like & getrecommendations! Published in 2020 at "Leukemia"
DOI: 10.1038/s41375-020-0869-y
Abstract: Clonal hematopoiesis is frequently observed in elderly people. To investigate the prevalence and dynamics of genetic alterations among healthy elderly individuals, a cohort of 50 people >80 years was genotyped for commonly mutated leukemia-associated genes… read more here.
Keywords: leukemia associated; clonal hematopoiesis; elderly individuals; associated mutations ... See more keywords
Multi-layered proteomic analyses decode compositional and functional effects of cancer mutations on kinase complexes
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-17387-y
Abstract: Rapidly increasing availability of genomic data and ensuing identification of disease associated mutations allows for an unbiased insight into genetic drivers of disease development. However, determination of molecular mechanisms by which individual genomic changes affect… read more here.
Keywords: proteomic analyses; layered proteomic; multi layered; cancer ... See more keywords
Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery.
Sign Up to like & getrecommendations! Published in 2023 at "Human molecular genetics"
DOI: 10.1093/hmg/ddad029
Abstract: Patient mutations have been identified throughout dynamin-related protein 1 (Drp1), the key protein mediator of mitochondrial fission. These changes generally impact young children and often result in severe neurological defects and, in some instances, death.… read more here.
Keywords: associated mutations; fission; mitochondrial fission; mutations drp1 ... See more keywords
Mycoplasma genitalium Infections With Macrolide and Fluoroquinolone Resistance-Associated Mutations in Heterosexual African American Couples in Alabama
Sign Up to like & getrecommendations! Published in 2019 at "Sexually Transmitted Diseases"
DOI: 10.1097/olq.0000000000000891
Abstract: Background Mycoplasma genitalium (MG) is a sexually transmitted pathogen associated with inflammatory syndromes in men and women. Macrolides and fluoroquinolones are recommended MG treatments. The frequency of MG strains with macrolide resistance-associated mutations (MRMs) and… read more here.
Keywords: african american; resistance associated; associated mutations; resistance ... See more keywords
Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cell Science"
DOI: 10.1101/2022.03.31.486414
Abstract: The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium result in ciliopathies, a group of… read more here.
Keywords: associated mutations; diverse impacts; wdr34 mutations; mutations wdr34 ... See more keywords
Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1
Sign Up to like & getrecommendations! Published in 2023 at "Science Advances"
DOI: 10.1126/sciadv.ade7109
Abstract: Estradiol (17$β$-E2) is implicated in higher arrhythmia risk of women with congenital or acquired long-QT syndrome (LQTS) compared to men. However, the underlying mechanisms remain poorly understood, and little is known about the impact of… read more here.
Keywords: associated mutations; lqts associated; kcne1; mutations kcne1 ... See more keywords
Differences in the Likelihood of Acyclovir Resistance-Associated Mutations in the Thymidine Kinase Genes of Herpes Simplex Virus 1 and Varicella-Zoster Virus
Sign Up to like & getrecommendations! Published in 2019 at "Antimicrobial Agents and Chemotherapy"
DOI: 10.1128/aac.00017-19
Abstract: Acyclovir (ACV) resistance-associated mutations in two recombinant herpes simplex virus 1 (HSV-1) clones were compared. Recombinant HSV-1 lacking its thymidine kinase (TK) and expressing varicella-zoster virus (VZV) TK ectopically had no mutations in the VZV… read more here.
Keywords: resistance associated; hsv; associated mutations; herpes simplex ... See more keywords