Results 31 to 40 of about 1,281 (185)

Lowe syndrome: a single center's experience in Korea [PDF]

Korean Journal of Pediatrics, 2014
PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global ...
Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo   +6 more
doaj   +1 more source

SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase

Cell Reports, 2021
Summary: Legionella pneumophila grows intracellularly within a replication vacuole via action of Icm/Dot-secreted proteins. One such protein, SdhA, maintains the integrity of the vacuolar membrane, thereby preventing cytoplasmic degradation of bacteria ...
Won Young Choi, Seongok Kim, Philipp Aurass, Wenwen Huo, Elizabeth A. Creasey, Marc Edwards, Martin Lowe, Ralph R. Isberg   +7 more
doaj   +1 more source

Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. [PDF]

, 2015
There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not ...
Butani, Lavjay
core   +1 more source

The effects of systemic diseases, genetic disorders and lifestyle on keloids. [PDF]

Int Wound J
Abstract Keloid are a fibroproliferative disorder caused by abnormal healing of skin, specifically reticular dermis, when subjected to pathological or inflammatory scars demonstrating redness, elevation above the skin surface, extension beyond the original wound margins and resulting in an unappealing cosmetic appearance.
Xia G, Dohi T, Abdelhakim M, Tosa M, Ogawa R.   +4 more
europepmc   +2 more sources

A role for OCRL in glomerular function and disease [PDF]

, 2019
Background: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can ...
Bierzynska, Agnieszka, Lennon, Rachel, Lowe, Martin, Naylor, Richard W., Preston, Rebecca, Saleem, Moin A., Stewart, Graham   +6 more
core   +4 more sources

Phosphatidylinositol (4,5)-bisphosphate turnover by INP51 regulates the cell wall integrity pathway in "Saccharomyces cerevisiae" [PDF]

, 2004
Signal transduction pathways are important for the cell to transduce external or internal stimuli where second messengers play an important role as mediators of the stimuli. One important group of second messengers are the phosphoinositide family present
Makhtar, Mokhairi, Neagu, Daniel, Ridley, Mick, Yang, Longzhi   +3 more
core   +2 more sources

Muscle Hypotonia in Lowe’s Syndrome

Pediatric Neurology Briefs, 1991
As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were ...
J Gordon Millichap
doaj   +1 more source

New primary renal diagnosis codes for the ERA-EDTA [PDF]

, 2012
The European Renal Association-European Dialysis and Transplant Association (ERA-EDTA) Registry has produced a new set of primary renal diagnosis (PRD) codes that are intended for use by affiliated registries. It is designed specifically for use in renal
Boeschoten, E., Casino, F., Collart, F., Cornet, R., De Meester, J., Gao, Y., Gronhagen-Riska, C., Jacquelinet, C., Jager, K.J., Kramar, R., Reid, C., Schaeffner, E., Simpson, K., Stengel, B., Tomson, C.R.V., Venkat-Raman, G., Zurriaga, O.   +16 more
core   +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

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature

Journal of Medical Case Reports, 2019
Background Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans ...
P. Tatsi, G. E. Papanikolaou, T. Chartomatsidou, I. Papoulidis, A. Athanasiadis, R. Najdecki, E. Timotheou   +6 more
doaj   +1 more source