Results 71 to 80 of about 13,537 (162)

Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. [PDF]

J Med Genet, 2022
Sena C, Iannello G, Skowronski AA, Dannheim K, Cheung L, Agrawal PB, Hirschhorn JN, Zeitler P, LeDuc CA, Stratigopoulos G, Thaker VV.   +10 more
europepmc   +1 more source

Bleeding and hemostatic defects in Lowe syndrome: the role of OCRL in platelets

Frontiers in Cell and Developmental Biology
Lowe syndrome (LS) is an X-linked disorder caused by OCRL mutations, encoding a phosphatidylinositol 5-phosphatase. OCRL regulates phosphatidylinositol-(4,5)-bisphosphate [PI(4,5)P2]-dependent cytoskeletal dynamics and membrane trafficking in multiple ...
Ana Bura, Antonija Jurak Begonja
doaj   +1 more source

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature. [PDF]

Am J Case Rep, 2023
Goodman CP, Park H, Mladenov GD, Raymond SL, Sundin A, Radulescu A, Khan FA.   +6 more
europepmc   +1 more source

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes. [PDF]

Biomolecules, 2023
Lee JJ, Ramadesikan S, Black AF, Christoffer C, Pacheco AFP, Subramanian S, Hanna CB, Barth G, Stauffacher CV, Kihara D, Aguilar RC.   +10 more
europepmc   +1 more source

Lysosome positioning and mTOR activity in Lowe syndrome. [PDF]

EMBO Rep, 2021
Karabiyik C, Son SM, Rubinsztein DC.
europepmc   +1 more source

Fanconi Syndrome: Genetic and Acquired Determinants

Journal of Education, Health and Sport
Fanconi syndrome is a condition characterized by proximal tubular dysfunction of the nephron, leading to urinary loss of glucose, amino acids, and electrolytes such as phosphate, sodium, potassium, calcium, and magnesium. It often co-occurs with tubular
Rafał Rejmak, Kornelia Karamus, Jan Biłogras, Wojciech Urban, Martyna Borowska-Łygan, Konrad Strużek, Jakub Tomaszewski   +6 more
doaj   +1 more source

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

BMC Pregnancy and Childbirth
Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected.
Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen   +6 more
doaj   +1 more source

A deletion mutation along with a novel DNA variation in OCRL cause Lowe syndrome in a child with multiple secondary manifestations. [PDF]

Int J Ophthalmol, 2021
Paniri A, Fattahi S, Rasoulinejad A, Akhavan-Niaki H.   +3 more
europepmc   +1 more source

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes. [PDF]

Hum Mol Genet, 2021
Ramadesikan S, Skiba L, Lee J, Madhivanan K, Sarkar D, De La Fuente A, Hanna CB, Terashi G, Hazbun T, Kihara D, Aguilar RC.   +10 more
europepmc   +1 more source

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction.
Rezan Topaloğlu, Michael Ludwig, Aslı Çelebi Tayfur   +2 more
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