Results 71 to 80 of about 1,497 (161)

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease

Journal of Pediatric Genetics, 2019
AbstractDent disease is a rare X-linked renal proximal tubulopathy presenting with low-molecular-weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis, other signs of incomplete renal Fanconi syndrome, and renal failure. Early identification of patients who harbor disease-associated mutations is important for effective medical care and ...
Maria Bitsori, Eleni Vergadi, Emmanouil Galanakis   +2 more
openaire   +3 more sources

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

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source

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

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

An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes [PDF]

European Journal of Human Genetics, 2012
Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations.
Maria Addis, Cristiana Meloni, TOSETTO, ENRICA, CEOL, MONICA, CRISTOFARO, ROSALBA, Maria Antonietta Melis, Paolo Vercelloni, DEL PRETE, DORELLA, Giuseppina Marra, ANGLANI, FRANCA   +9 more
openaire   +4 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

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

Functional analysis of CLCN5 mutations in patients with Dent's disease

The FASEB Journal, 2012
Dent's disease is an X‐linked renal disease characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, which can be due to loss‐of‐function mutations in the CLCN5 gene encoding the ClC‐5 2Cl − /H +
Teddy Grand, Jacques Teulon, Stéphane Lourdel   +2 more
openaire   +1 more source