Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array. [PDF]
, 2010 Genetic determinants of blood pressure are poorly defined. We undertook a large-scale, gene-centric analysis to identify loci and pathways associated with ambulatory systolic and diastolic blood pressure.
Braund, P.S. +20 more
core +2 more sources
Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]
, 2010 Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel +7 more
core +2 more sources
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon [PDF]
, 2021 Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight ...
Anglani, Franca +3 more
core +1 more source
Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion [PDF]
, 2013 Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation.
Curhan, Gary C. +4 more
core +7 more sources
Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters
Frontiers in Cell and Developmental Biology, 2021 The regulation of luminal ion concentrations is critical for the function of, and transport between intracellular organelles. The importance of the acidic pH in the compartments of the endosomal-lysosomal pathway has been well-known for decades.
Shroddha Bose +4 more
doaj +1 more source
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]
, 2016 BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M +41 more
core +1 more source
Characteristics of binding sites of intergenic, intronic and exonic miRNAs with mRNAs of oncogenes coding intronic miRNAs [PDF]
, 2013 International audienceThe interaction of 784 intergenic (ig-miRNA), 686 intronic (in-miRNA) and 49 exonic miRNAs (ex-miRNA) with mRNAs of 51 oncogenes coding in-miRNAs was investigated.
Berillo, Olga +3 more
core +2 more sources
Inhibition of MicroRNA miR-222 with LNA Inhibitor Can Reduce Cell Proliferation in B Chronic Lymphoblastic Leukemia [PDF]
, 2016 MicroRNAs (miRNAs) are small regulatory molecules that negatively regulate gene expression by base-pairing with their target mRNAs. miRNAs have contribute significantly to cancer biology and recent studies have demonstrated the oncogenic or tumor ...
Ashrafi Dehkordi, Korosh. +9 more
core +1 more source
Role of CFTR and ClC-5 in Modulating Vacuolar H+-ATPase Activity in Kidney Proximal Tubule [PDF]
, 2010 Background/Aims: It has been widely accepted that chloride ions moving along chloride channels act to dissipate the electrical gradient established by the electrogenic transport of H+ ions performed by H+-ATPase into subcellular vesicles.
Bezerra, Camila N. A. +7 more
core +1 more source
Analysis in the CLCN5 gene in patients with familial idiopathic low-molecular-weight proteinuria.
Nihon Shoni Jinzobyo Gakkai Zasshi, 1998 家族性特発性低分子蛋白尿症 (familial idiopathic low-molecular-weight proteinuria: FILMWP) は，低分子蛋白尿を呈する腎尿細管障害で本邦にて報告された。一方，腎結石症を伴うDent病などの3つの遺伝性腎尿細管障害が欧米で報告され，クロライドチャンネルCLCN5遺伝子の異常であることが報告された。これらの疾患には臨床上の類似性がみられるが，FILMWPでは腎不全やくる病がないことで区別される。 私達はFILMWP患者5例についてCLCN5遺伝子を解析し，一塩基挿入2例，一塩基欠失2例，ナンセンス変異1例を認めた。FILMWPの多くは本遺伝子の異常でおこると考えられ，これら4つの腎尿細管疾患は1つの疾患の亜型と考えられる ...
Hitoshi Nakazato +10 more
openaire +2 more sources