Results 121 to 130 of about 2,184 (189)

CLCN5 inhibits tumorigenesis and fatty acid accumulation in clear cell renal cell carcinoma by regulating Enoyl CoA hydratase and 3-Hydroxyacyl CoA dehydrogenase. [PDF]

Int J Med Sci
Yu T, Li W, Meng X, Yang W, Ruan H, Xiao W, Zhang X.   +6 more
europepmc   +1 more source

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Del Prete D, Ceol M, Giannella A, Ceolotto G, Sgrò E, Priante G, Fedrigo M, Anglani F, Nalesso F.   +8 more
europepmc   +1 more source

Phenotype and genotype analyses of 21 Chinese patients with Dent disease. [PDF]

J Biomed Res
Che R, Cai Y, Zhou W, Zhao S, Huang S.
europepmc   +1 more source

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits. [PDF]

Front Med (Lausanne)
Li Y, Zhang J, Yin ZJ, Zhou Z, Huang B, Mahmood K, Colville D, Barit D, Auwardt R, Fassett R, Paizis K, Ierino F, Pianta T, Langsford D, Huang M, Savige J.   +15 more
europepmc   +1 more source

Clinical and genetic characteristics of Dent's disease type 1 in Europe [PDF]

, 2023
Fenoglio, Roberta
core  

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel <i>CLCN5</i> and <i>OCRL</i> variants. [PDF]

Ren Fail
Jiang X, Lin H, Zhu Q, Chen H, Huang Y, Huang XF, Wang D.   +6 more
europepmc   +1 more source

Bioinformatics analysis of a <i>CLCN5</i> geneframeshift mutation in a patient with Dent disease. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Zhang Y, Li N, Fan L, Liu J.
europepmc   +1 more source

Early and mid-embryonic upregulation of chloride, calcium, and sodium transporter genes mark functional maturation of the chorioallantoic membrane in broiler embryos. [PDF]

Front Physiol
Amaz SA, Poudel S, Jha R, Mishra B.
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

GENETIC ANALYSIS IN DENT DISEASE AND FUNCTIONAL STUDIES OF CLCN5 MUTATIONS IN PATIENTS’ KIDNEY BIOPSIES [PDF]

, 2019
Dorella Del Prete, Franca Anglani, Giovanna Priante, Lisa Gianesello, Monica Ceol   +4 more
core   +1 more source