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Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production
Aldosterone-producing adenomas (APAs) are the commonest curable cause of hypertension. Most have gain-of-function somatic mutations of ion channels...
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Analysis of somatic mutations in whole blood from 200,618 individuals identifies pervasive positive selection and novel drivers of clonal hematopoiesis
Human aging is marked by the emergence of a tapestry of clonal expansions in dividing tissues, particularly evident in blood as clonal hematopoiesis...
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De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital...
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TP53 somatic mutations in Asian breast cancer are associated with subtype-specific effects
BackgroundRecent genomics studies of breast cancer in Asian cohorts have found a higher prevalence of TP53 mutations in Asian breast cancer patients...
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Association of 410L, 1016I and 1534C kdr mutations with pyrethroid resistance in Aedes aegypti from Ouagadougou, Burkina Faso, and development of a one-step multiplex PCR method for the simultaneous detection of 1534C and 1016I kdr mutations
BackgroundSince 2000, Burkina Faso has experienced regular dengue cases and outbreaks, making dengue an increasingly important health concern for the...
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A descriptive study on isoniazid resistance-associated mutations, clustering and treatment outcomes of drug-resistant tuberculosis in a high burden country
PurposeTo describe katG and inhA mutations, clinical characteristics, treatment outcomes and clustering of drug-resistant tuberculosis (TB) in the...
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Charge-changing point mutations in the E protein of tick-borne encephalitis virus
Introduction of point mutations is one of the forces enabling arboviruses to rapidly adapt in a changing environment. The influence of these...
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Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations
Heterozygous loss-of-function mutations in progranulin ( GRN ) cause frontotemporal dementia (FTD), a leading cause of early-onset dementia...
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Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis
BackgroundThere has been extensive scrutiny of cancer driving mutations within the exome (especially amino acid altering mutations) as these are more...
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Splicing mutations in the CFTR gene as therapeutic targets
The marketing approval, about ten years ago, of the first disease modulator for patients with cystic fibrosis harboring specific CFTR genotypes (~5%...
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Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism
Primary aldosteronism (PA) is the most common form of endocrine hypertension and is characterized by inappropriately elevated aldosterone production...
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SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer
Cancer arises when normal cells are transformed into malignant cells by acquiring a number of hallmarks such as sustained proliferative signaling;...
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Truncation mutations in MYRF underlie primary angle closure glaucoma
Mutations in myelin regulatory factor ( MYRF ), a gene mapped to 11q12-q13.3, are responsible for autosomal dominant high hyperopia and seem to be...
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Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases
BackgroundAutosomal dominant mutations in α-synuclein, TDP-43 and tau are thought to predispose to neurodegeneration by enhancing protein...
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Pan-cancer analysis of NFE2L2 mutations identifies a subset of lung cancers with distinct genomic and improved immunotherapy outcomes
BackgroundMutations in the KEAP1-NFE2L2 signaling pathway were linked to increased tumorigenesis and aggressiveness. Interestingly, not all hotspot...
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An Fc variant with two mutations confers prolonged serum half-life and enhanced effector functions on IgG antibodies
The pH-selective interaction between the immunoglobulin G (IgG) fragment crystallizable region (Fc region) and the neonatal Fc receptor (FcRn) is...
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Inactivation of cell-free HIV-1 by designing potent peptides based on mutations in the CD4 binding site
Human immunodeficiency virus type 1 (HIV-1) is a major global health problem, with over 38 million people infected worldwide. Current anti-HIV-1...
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
BackgroundCongenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to...
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Genomic surveillance of Anopheles mosquitoes on the Bijagós Archipelago using custom targeted amplicon sequencing identifies mutations associated with insecticide resistance
BackgroundInsecticide resistance is reducing the efficacy of vector control interventions, consequently threatening efforts to control vector-borne...
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In-silico functional and molecular phenotypic analysis of NFKBIE (V194A), and PADI4 (G55S, V82A,G112A) gene mutations in rheumatoid arthritis
Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disorder of the joints, influenced by various factors such as age, sex, smoking,...
