Results 31 to 40 of about 4,156 (218)

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

Nephrology Dialysis Transplantation, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +7 more sources

IPIP27A cooperates with OCRL to support endocytic traffic in the zebrafish pronephric tubule.

Human Molecular Genetics, 2021
Endocytosis is a fundamentally important process through which material is internalized into cells from the extracellular environment. In the renal proximal tubule, endocytosis of the abundant scavenger receptor megalin and its co-receptor cubilin play a
Francesca Oltrabella, Anthony Jackson-Crawford, Guanhua Yan, Sarah Rixham, T. Starborg, M. Lowe   +5 more
semanticscholar   +4 more sources

Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract ...
Bixia Zheng, Qiuxia Chen, Chunli Wang, Wei Zhou, Ying Chen, Guixia Ding, Zhanjun Jia, Aihua Zhang, SongMing Huang   +8 more
doaj   +2 more sources

Multiple analytical perspectives of mitochondrial genes in the context of preeclampsia: potential diagnostic markers [PDF]

Frontiers in Immunology
Preeclampsia(PE) is closely linked to adverse maternal and fetal outcomes. Given the pivotal roles of mitochondria in various human diseases and the limited research on their involvement in PE, this study identified biomarkers linked to mitochondrial ...
Can Li, Can Li, Fang Liu, Chao Li, Xiangzhong Zhao, Qiulan Lv, Aiping Jiang, Shuping Zhao   +7 more
doaj   +2 more sources

Whole blood gene expression moderates associations between AD biomarkers and cognitive decline in cognitively unimpaired older adults [PDF]

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION Early biological pathways explaining the risk for Alzheimer's disease (AD)–related cognitive decline remain poorly understood. METHODS Using linear mixed‐effects models, we investigated whether whole blood gene expression (RNA sequencing) moderates the relationship between AD biomarkers measured by amyloid beta (Aβ) and tau‐PET ...
Hannah M. Klinger, Mabel Seto, Vaibhav A. Janve, Jane A. Brown, Michelle Clifton, Colin Birkenbihl, Gillian T. Coughlan, Diana L. Townsend, Michael Properzi, Jane Zyski, Ting‐Chen Wang, Rebecca E. Amariglio, Kathryn V. Papp, Dorene M. Rentz, Hyun‐Sik Yang, Jasmeer Chhatwal, Michael C. Donohue, Rema Raman, Robert A. Rissman, Paul Aisen, Keith A. Johnson, Reisa A. Sperling, Logan Dumitrescu, Timothy Hohman, Rachel F. Buckley   +24 more
wiley   +2 more sources

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome [PDF]

Human Molecular Genetics, 2012
Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with small GTPases and is involved in intracellular ...
Na Luo, Hemant Khanna, Yang Sun
exaly   +5 more sources

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome

Pediatric Nephrology
Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children ...
Rong Du, Chengcheng Zhou, Shehong Chen, Tong Li, Yunting Lin, Aijing Xu, Yonglan Huang, H. Mei, Xiaoli Huang, Dongdong Tan, Ruidan Zheng, C. Liang, Yanna Cai, Y. Shao, Wen Zhang, Li Liu, C. Zeng   +16 more
semanticscholar   +3 more sources

Rational design of k-casein peptides to modulate GSK-3B dynamics for Alzheimer’s therapy [PDF]

Scientific Reports
GSK-3β is an important therapeutic target in Alzheimer’s disease due to its central role in tau hyperphosphorylation, and synaptic dysfunction. In this study, a κ-casein-derived peptide (LALTLPFLGA) was identified via HADDOCK and introduced to MD ...
Neda Moghaddam, Ali Ramazani, Armin Zarei   +2 more
doaj   +2 more sources

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease [PDF]

Italian Journal of Pediatrics
Background A prominent feature of Dent disease (DD) is the progressive decline in renal function, with 30% - 80% of male patients advancing to end-stage renal disease between the ages of 30 and 50 years.
Lanqi Zhou, Zuowei Yu, Yuan Yang, Yanxinli Han, Liru Qiu, Yu Zhang, Fengjie Yang, Jianhua Zhou   +7 more
doaj   +2 more sources

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders [PDF]

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   +2 more sources