Results 61 to 70 of about 1,469 (156)

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

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

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

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Psoriasis is a chronic inflammatory dermatosis with complex genetic basis supported by family investigation. Renal involvement in psoriasis is sparsely studied and its pathogenesis is still unclear.
Lei Wei, Ye Fang, Guanghai Cao, Shufeng Zhang, Ming Tian, Qian Shen, Hong Xu, Cuihua Liu, Jia Rao   +8 more
doaj   +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

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

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

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

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