A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova +10 more
wiley +1 more source
Effects of mutations in multiple Ethionamide-resistance-associated genes among <i>Mycobacterium tuberculosis</i> clinical isolates from China. [PDF]
Wang W +8 more
europepmc +1 more source
PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou +14 more
wiley +1 more source
RNA-Binding Proteins in Adipose Biology: From Mechanistic Understanding to Therapeutic Opportunities. [PDF]
Dairi G +5 more
europepmc +1 more source
Epigenetic Alterations Beyond CpG Islands in Periodontitis: In Silico Study of DNA Methylation Data
ABSTRACT Objectives To classify differentially methylated CpG sites in periodontitis based on methylation shift direction and location relative to CpG islands. Material and Methods We integrated DNA methylation data from 65 gingival samples (31 periodontitis, 34 healthy) from three GEO datasets.
Koki Yoshida +2 more
wiley +1 more source
<i>Salvia miltiorrhiza</i>-derived microRNA58 inhibits tumor growth by targeting Krüppel-like factor 3 in human endothelial cells. [PDF]
Qin Y +11 more
europepmc +1 more source
ABSTRACT 5‐Methylcytosine (m5C) RNA modification contributes to tumor initiation and progression. However, its transcriptome‐wide distribution patterns and biological implications in hepatitis B virus (HBV)‐negative hepatocellular carcinoma (HCC) remain poorly understood.
Tianhan Sun +12 more
wiley +1 more source
<i>Pseudomonas putida</i> KT2440-induced RBM47 regulates non-small cell lung cancer stem cell properties and T cell-mediated antitumor activity. [PDF]
Zheng QX +9 more
europepmc +1 more source
The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi +5 more
wiley +1 more source
Optimization of untranslated regions enhances antigen expression and immunogenicity of FMDV P12A3C mRNA vaccine. [PDF]
Liu H +8 more
europepmc +1 more source

