Results 71 to 80 of about 1,469 (156)

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients

Physiological Reports, 2016
Dent disease type 1, an X-linked inherited kidney disease is caused by mutations in electrogenic Cl(-)/H(+) exchanger, ClC-5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W.
Tang, Xiaojing, Brown, Matthew R., Cogal, Andrea G., Gauvin, Daniel, Harris, Peter C., Lieske, John C., Romero, Michael F., Chang, Min‐Hwang   +7 more
openaire   +2 more sources

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

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. [PDF]

PLoS ONE, 2018
Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed.Clinical features and mutation spectrum were ...
Sezer Acar, Huda A BinEssa, Korcan Demir, Roua A Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F Al-Enezi, Seçil Özışık, Manar S A Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E Tamimi, Brian F Meyer, Ece Böber, Yufei Shi   +18 more
doaj   +1 more source

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

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

Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex

Scientific Reports, 2017
Albumin re-uptake is a receptor-mediated pathway located in renal proximal tubuli. There is increasing evidence of glomerular protein handling by podocytes, but little is known about the mechanism behind this process.
Lisa Gianesello, Giovanna Priante, Monica Ceol, Claudia M. Radu, Moin A. Saleem, Paolo Simioni, Liliana Terrin, Franca Anglani, Dorella Del Prete   +8 more
doaj   +1 more source

Nephrocalcinosis – latest reports on risk factors

Pediatria Polska
This review synthesises recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterised by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska   +5 more
doaj   +1 more source

Nephrocalcinosis: the latest reports on risk factors – a review

Pediatria Polska
This review synthesizes recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterized by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska   +5 more
doaj   +1 more source

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS.
Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima   +17 more
doaj   +1 more source