Results 41 to 50 of about 2,467 (196)
IL-4 Up-Regulates MiR-21 and the MiRNAs Hosted in the CLCN5 Gene in Chronic Lymphocytic Leukemia. [PDF]
PLoS ONE, 2015 Interleukin 4 (IL-4) induces B-cell differentiation and survival of chronic lymphocytic leukemia (CLL) cells. MicroRNAs (miRNAs) regulate mRNA and protein expression, and several miRNAs, deregulated in CLL, might play roles as oncogenes or tumor ...
Natalia Ruiz-Lafuente +8 more
doaj +1 more source
A role for OCRL in glomerular function and disease [PDF]
, 2019 Background: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can ...
Bierzynska, Agnieszka +6 more
core +4 more sources
Nefrología, 2023 Resumen: Antecedentes y objetivo: La enfermedad de Dent tipo 1 (DD1) es una enfermedad hereditaria rara ligada al cromosoma X causada por mutaciones en el CLCN5 que se caracteriza principalmente por una disfunción del túbulo proximal, hipercalciuria ...
Carla Burballa +5 more
doaj +1 more source
Inference of gene-phenotype associations via protein-protein interaction and orthology [PDF]
, 2013 published_or_final_versio
Lai, WF +6 more
core +3 more sources
The CLC-5 2Cl-/H+ exchange transporter in endosomal function and Dent's disease [PDF]
, 2012 CLC-5 plays a critical role in the process of endocytosis in the proximal tubule of the kidney and mutations that alter protein function are the cause of Dent's I disease.
Lippiat, JD, Smith, AJ
core +2 more sources
Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease [PDF]
Clinical Kidney Journal, 2017 Dent's disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones ...
Fischer, Anne Sophie +3 more
openaire +4 more sources
BMC Nephrology, 2021 Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan +5 more
doaj +1 more source
Heterogeneity in the processing of ClC-5 mutants related to Dent disease [PDF]
, 2011 International audienceMutations in the electrogenic Cl-/H+ exchanger ClC-5 gene CLCN5 are frequently associated with Dent disease, an X-linked recessive disorder affecting the proximal tubules. Here, we investigate the consequences in X.
Defontaine, Nadia +9 more
core +4 more sources
CLCN5 gene abnormality in patients with idiopathic tubular proteinuria.
Nihon Shoni Jinzobyo Gakkai Zasshi, 1996 Dentらが報告した患者を含む8家系の患者を1990年WrongらはDent病と命名した。1995年ThakkerらはDent病の責任遺伝子CLCN5をクローニングし，翌年Dent病におけるCLCN5の遺伝子異常を解明した。一方，私どもは1994年より本症の臨床症状が1980年に岡田らがわが国で初めてその臨床的特異性を明らかにし独立の疾患であることを提唱した特発性尿細管性蛋白尿症に類似する事を指摘していた。今回私どもは鈴木の暫定的診断基準 (表1) を満たす特発性尿細管性蛋白尿症14家系中10家系 (71%) にクロライドチャンネルN5 (CLCN5) の遺伝子異常 (nonsense mutation 4家系，missense mutation 3家系，frameshift mutation ...
Takashi Igarashi +8 more
openaire +2 more sources
Frontiers in Molecular Neuroscience, 2018 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid involved in numerous physiological and pathophysiological processes. We have previously reported a S1P-induced nocifensive response in mice by excitation of sensory neurons via activation of an ...
Yanmei Qi +6 more
doaj +1 more source