Results 21 to 30 of about 87,553 (201)

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Genetics Research, 2022
Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao   +12 more
doaj   +1 more source

Chronic renal failure revealing a Lowe’s syndrome. First case report from an Algerian family. [PDF]

Batna Journal of Medical Sciences, 2023
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder the causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1.
Ghalia Khellaf, Soumia Missoum, Amel Gazit, Fatima Abib, Ali Benziane   +4 more
doaj   +1 more source

Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome

Stem Cell Research, 2021
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated.
Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo   +6 more
doaj   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +7 more sources

Anesthetic challenges in a child with Lowe's and Fanconi syndrome

Indian Journal of Anaesthesia, 2018
Oculocerebrorenal syndrome of Lowe is a rare X-linked metabolic disorder complicated by Fanconi's syndrome. Anaesthetic management of Lowe syndrome with Fanconi's syndrome is challenging to the anaesthesiologists in view of difficult airway due to ...
Shital Digambar Chaudhari, Manpreet Kaur
doaj   +1 more source

The Inositol 5-Phosphatase dOCRL Controls PI(4,5)P2 Homeostasis and Is Necessary for Cytokinesis [PDF]

, 2011
SummaryDuring cytokinesis, constriction of an equatorial actomyosin ring physically separates the two daughter cells. At the cleavage furrow, the phosphoinositide PI(4,5)P2 plays an important role by recruiting and regulating essential proteins of the ...
Amin A, Batty M, Beck U, Clark W A V, Cresswell T, Ham M, Harris‐Short S, ISER, Lesthaeghe R, Martin D, McDowell L, Murray L, Taylor M F, Urry J   +13 more
core   +1 more source

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]

, 2016
Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

BMC Medical Genomics, 2021
Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen, Jianhua Zhou   +6 more
doaj   +1 more source

Assessment and diagnosis of acute limb compartment syndrome: A literature review [PDF]

, 2014
Background: Compartment syndrome is a collection of symptoms that signal increased pressure in the muscle compartment and results in compromised tissue perfusion.
Ali, Parveen, Santy-Tomlinson, Julie, Watson, Roger   +2 more
core   +2 more sources

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Scientific Reports, 2017
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun   +8 more
doaj   +1 more source