Results 101 to 110 of about 2,467 (196)

Machine Learning‐Based Integrated Analysis of PANoptosis Patterns in Acute Myeloid Leukemia Reveals a Signature Predicting Survival and Immunotherapy

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, Wei Zhang, Yang Zhang, Wenjun Deng, Mingyi Zhao, Xiaohan Ren   +5 more
wiley   +1 more source

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis

Scientific Reports, 2023
The spectra of underlying genetic variants for various clinical entities including focal segmental glomerulosclerosis (FSGS) vary among different populations.
Suramath Isaranuwatchai, Ankanee Chanakul, Chupong Ittiwut, Rungnapa Ittiwut, Chalurmpon Srichomthong, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Kearkiat Praditpornsilpa   +7 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, Devuyst, Olivier, Luciani, Alessandro, Nevo, Nathalie, Raggi, Claudia, Terryn, Sara   +5 more
core  

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, Facchiano, Antonio, Facchiano, Francesco, Giampietri, Claudia, Marchetti, Paolo, Scatozza, Francesca   +5 more
core   +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., Galante, Pedro A. F., Heyn, Jens, Hinske, Ludwig Christian, Kreth, Simone, Lopes-Ramos, Camila M., Ohara, Daniel T., Ohno-Machado, Lucila, Reis, Luiz F. L., Torres, Hugo A. M.   +9 more
core   +5 more sources

Mutations associated with Dent’s disease affect gating and voltage dependence of the human anion/proton exchanger ClC-5

Frontiers in Physiology, 2015
Dent’s disease is associated with impaired renal endocytosis and endosomal acidification. It is linked to mutations in the membrane chloride/proton exchanger ClC-5, however, a direct link between localization in the protein and functional phenotype of ...
Alexi eAlekov
doaj   +1 more source

From Oxidative Stress Damage to Pathways, Networks, and Autophagy via MicroRNAs. [PDF]

, 2018
Oxidative stress can alter the expression level of many microRNAs (miRNAs), but how these changes are integrated and related to oxidative stress responses is poorly understood. In this article, we addressed this question by using in silico tools.
\u17derovnik, E, Albertini, Mc., Betti, M, Engedal, N, Galli, F, Monsurr\uf2, V, Olivieri, F, Procopio, Ad, Rippo, Mr, Rudov, A   +9 more
core   +1 more source

Dent–Wrong disease and other rare causes of the Fanconi syndrome [PDF]

, 2014
Dent–Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia.
Ing, Todd S., Lew, Susie Q., Solano, Alejandro   +2 more
core   +3 more sources

Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria

Kidney International, 1997
Familial idiopathic low-molecular-weight proteinuria (FILMWP) is a renal proximal tubulopathy that occurs predominantly in males. FILMWP is characterized by mild proteinuria consisting of low-molecular-weight proteinuria, aminoaciduria and relatively conserved renal function, but without rickets. To determine whether FILMWP is related to the CLCN5 gene,
Nakazato, Hitoshi, Hattori, Shinzaburo, Furuse, Akio, Kawano, Tomoyasu, Karashima, Shinnyo, Tsuruta, Motoko, Yoshimuta, Junichiro, Endo, Fumio, Matsuda, Ichiro   +8 more
openaire   +2 more sources

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome [PDF]

, 2018
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome.
Ashraf, S, Bakkaloglu, SA, Baum, M, Benador, N, Bockenhauer, D, Bogdanovic, R, Braun, DA, Buscher, R, Cadnapaphornchai, MA, Chen, J, Chernin, G, Daga, A, Daouk, G, El Desoky, S, Ettenger, R, Fathy, H, Fehrenbach, H, Ferguson, MA, Gee, HY, Hashmi, S, Hermle, T, Hildebrandt, F, Hopcian, J, Ityel, H, Jobst-Schwan, T, Kari, JA, Kemper, M, Kohl, S, Kopp, JB, Lawson, JA, Lifton, RP, Lovric, S, Majmundar, AJ, Mane, S, Mueller, D, Munarriz, RL, Nakayama, M, Noyan, A, Ozaltin, F, Pabst, WL, Podracka, L, Rao, J, Rodig, NM, Sadowski, CE, Schapiro, D, Schmidt, JM, Schneider, R, Serdaroglu, E, Shril, S, Soliman, NA, Somers, MJG, Stajic, N, Stein, DR, Tan, W, Tasic, V, Traum, AZ, van der Ven, AT, Vivante, A, Warejko, JK, Widmeier, E, Zenker, M   +60 more
core