Results 91 to 100 of about 2,184 (189)
Molecular Genetics &Genomic Medicine, Volume 12, Issue 2, February 2024.Abstract Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations.
Maria Helena Vaisbich +10 more
wiley +1 more source
Microenvironment regulates the expression of miR-21 and tumor suppressor genes PTEN, PIAS3 and PDCD4 through ZAP-70 in chronic lymphocytic leukemia [PDF]
, 2017 Chronic lymphocytic leukemia (CLL) cells are highly dependent on microenvironment, being the BCR pathway one key player in this crosstalk. Among proteins participating, ZAP-70 enhances response to microenvironmental stimuli.
Abrisqueta, Pau +9 more
core +4 more sources
Clinical Case Reports, Volume 12, Issue 1, January 2024.The development of FGF23‐associated hypophosphatemic rickets and elevation of several inflammatory markers before the onset of SLE Key Clinical Message This case report describes the clinical course of a juvenile female with FGF23‐related hypophosphatemic rickets preceding the onset of SLE.
Yoko tabei +6 more
wiley +1 more source
Ion channel expression in human melanoma samples. in silico identification and experimental validation of molecular targets [PDF]
, 2019 Expression of 328 ion channel genes was investigated, by in silico analysis, in 170 human melanoma samples and controls. Ninety-one members of this gene-family (i.e., about 28%) show a significant (p 0.90 and p 90% in most cases).
D’Arcangelo, Daniela +5 more
core +1 more source
International Journal of Clinical Practice, Volume 2024, Issue 1, 2024.Objective. We conducted a meticulous bioinformatics analysis leveraging expression data of 226 PANRGs obtained from previous studies, as well as clinical data from AML patients derived from the HOVON database. Methods. Through meticulous data analysis and manipulation, we were able to categorize AML cases into two distinct PANRG clusters and ...
Lanlan Tang +5 more
wiley +1 more source
Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report
Journal of Medical Case Reports, 2011 Introduction Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure.
Ludwig Michael +3 more
doaj +1 more source
Identification of key gene biomarkers and pathways related to Dent disease in CLCN5 knockout mice by bioinformatics analysis [PDF]
, 2019 Abstract Background Dent disease is an X-linked inherited renal disease that occurs almost exclusively in males. Abnormal CLC-5 function might play a role in the development of Dent disease, but the genetic interaction changes and biomarkers in Dent disease are not fully understood.
Zhijian Lin +3 more
openaire +1 more source
miRIAD-integrating microRNA inter- and intragenic data [PDF]
, 2014 MicroRNAs (miRNAs) are a class of small (similar to 22 nucleotides) non-coding RNAs that post-transcriptionally regulate gene expression by interacting with target mRNAs. A majority of miRNAs is located within intronic or exonic regions of protein-coding
Franca, Gustavo S. +9 more
core +5 more sources
Dent’s disease: case series from a single center
The Turkish Journal of PediatricsBackground. Dent’s disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease.
Hilal Yaşar +5 more
doaj +1 more source
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]
, 2017 Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne +5 more
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