Results 91 to 100 of about 2,467 (196)

Understanding formation processes of calcareous nephrolithiasis in renal interstitium and tubule lumen

Journal of Cellular and Molecular Medicine, Volume 28, Issue 7, April 2024.
Abstract Kidney stone, one of the oldest known diseases, has plagued humans for centuries, consistently imposing a heavy burden on patients and healthcare systems worldwide due to their high incidence and recurrence rates. Advancements in endoscopy, imaging, genetics, molecular biology and bioinformatics have led to a deeper and more comprehensive ...
Caitao Dong, Jiawei Zhou, Xiaozhe Su, Ziqi He, Qianlin Song, Chao Song, Hu Ke, Chuan Wang, Wenbiao Liao, Sixing Yang   +9 more
wiley   +1 more source

Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. [PDF]

Journal of the American Society of Nephrology, 1998
Mutations in the CLCN5 gene have been demonstrated in three disorders of hypercalciuric nephrolithiasis, i.e., Dent's disease, X-linked recessive nephrolithiasis, and X-linked recessive hypophosphatemic rickets. Recently, a number of Japanese children with low molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients with ...
T, Morimoto, S, Uchida, H, Sakamoto, Y, Kondo, H, Hanamizu, M, Fukui, Y, Tomino, N, Nagano, S, Sasaki, F, Marumo   +9 more
openaire   +2 more sources

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts

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, Antônio César Paulillo de Cillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino de Carvalho, Juliana M. C. M. de Almeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. da Silva, Paula Frassinetti V. de Medeiros, Pedro Henrique Mendes   +10 more
wiley   +1 more source

MyGene2 automated match report: CLCN5

, 2017
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire   +1 more source

Physiological implications of the regulation of vacuolar H+-ATPase by chloride ions [PDF]

, 2009
Vacuolar H+-ATPase is a large multi-subunit protein that mediates ATP-driven vectorial H+ transport across the membranes. It is widely distributed and present in virtually all eukaryotic cells in intracellular membranes or in the plasma membrane of ...
CARRARO-LACROIX, L.R., FERNANDEZ, R., LESSA, L.M.A., MALNIC, G.   +3 more
core   +2 more sources

FGF23‐related hypophosphatemic rickets preceding the onset of systemic lupus erythematosus: A juvenile case

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, Yoshiaki Ohtsu, Masaharu Shimada, Aya Wada, Emi Hamajima, Yoshimitsu Osawa, Takumi Takizawa   +6 more
wiley   +1 more source

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

The Bioinformatics Analysis of Aldosterone-Producing Adenoma and Verification of Differentially Expressed Genes

International Journal of Endocrinology, 2021
Purpose. Previous studies have investigated the transcriptional modulations of aldosterone overproduction of aldosterone-producing adenomas (APAs). We aimed to systematically study the genes and pathways associated with molecular mechanism underlying APA
Yinjie Gao, Xiaosen Ma, Huiping Wang, Yunying Cui, Yushi Zhang, Min Nie, Anli Tong   +6 more
doaj   +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, Bosch José, Francesc Xavier, Calpe, Eva, Carabia, Júlia, Carpio Segura, Cecilia del Carmen, Crespo, Marta, Jiménez, Isabel, Palacio, Carles, Purroy, Noelia, Universitat Autònoma de Barcelona   +9 more
core   +4 more sources