Results 91 to 100 of about 4,156 (218)

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractDisturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking
Richard J, Schroer, Arthur L, Beaudet, Marwan, Shinawi, Trilochan, Sahoo, Ankita, Patel, Qin, Sun, Cindy, Skinner, Roger E, Stevenson   +7 more
openaire   +2 more sources

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

Human Molecular Genetics, 2018
Mutations in OCRL encoding the inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) disrupt phosphoinositide homeostasis along the endolysosomal pathway causing dysfunction of the cells lining the kidney proximal tubule (PT)
Beatrice Paola Festa, Marine Berquez, A. Gassama, I. Amrein, H. M. Ismail, M. Samardzija, Leopoldo Staiano, A. Luciani, C. Grimm, R. Nussbaum, M. D. De Matteis, O. Dorchies, L. Scapozza, D. Wolfer, O. Devuyst   +14 more
semanticscholar   +1 more source

Premature cognitive decline in a mouse model of tuberous sclerosis

Aging Cell, Volume 23, Issue 12, December 2024.
Tuberous sclerosis (TS) is a progressive neurodevelopmental disorder caused by mutations in Tsc1 or Tsc2 genes, leading to hyperactivity of the mTOR pathway. Using a conventional Tsc2+/− model, we observed a premature decline of cognitive functions and a reduction of immediate early gene expression, that could be rescued by IGF2.
J. Krummeich, L. Nardi, C. Caliendo, D. Aschauer, V. Engelhardt, A. Arlt, J. Maier, F. Bicker, M. D. Kwiatkowski, K. Rolski, K. Vincze, R. Schneider, S. Rumpel, S. Gerber, M. J. Schmeisser, S. Schweiger   +15 more
wiley   +1 more source

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease

Molecular Genetics & Genomic Medicine, 2020
Background To characterize the phenotypic spectrum and assess the antialbuminuric response to angiotensin converting enzyme (ACE) inhibitor and/or angiotensin receptor blocker (ARB) therapy in a cohort of children with Dent disease. Methods The patients’
Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Hongwen Zhang, Xiaoyu Liu, Baige Su, Na Guan, Xuhui Zhong, Suxia Wang, Jie Ding, Fang Wang   +11 more
doaj   +1 more source

Genome-wide identification of loci associated with growth in rainbow trout

BMC Genomics, 2020
Background Growth is a major economic production trait in aquaculture. Improvements in growth performance will reduce time and cost for fish to reach market size. However, genes underlying growth have not been fully explored in rainbow trout.
Ali Ali, Rafet Al-Tobasei, Daniela Lourenco, Tim Leeds, Brett Kenney, Mohamed Salem   +5 more
doaj   +1 more source

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +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
doaj  

pH-responsive magnetic CuFe2O4-PMAA nanogel conjugated with amino-modified lignin for controlled breast cancer drug delivery

Scientific Reports
In this study, a novel magnetic and pH-responsive nanocarrier was developed, incorporating both natural and synthetic polymers, for delivering curcumin (CUR) to breast cancer cells.
Nadia Fattahi, Faranak Aghaz, Aram Rezaei, Ali Ramazani, Abolfazl Heydari, Seyedmohammad Hosseininezhad, Won-Kyo Jung   +6 more
doaj   +1 more source

Novel findings from family-based exome sequencing for children with biliary atresia

Scientific Reports, 2021
Biliary atresia (BA) is a progressive inflammation and fibrosis of the biliary tree characterized by the obstruction of bile flow, which results in liver failure, scarring and cirrhosis.
Kien Trung Tran, Vinh Sy Le, Lan Thi Mai Dao, Huyen Khanh Nguyen, Anh Kieu Mai, Ha Thi Nguyen, Minh Duy Ngo, Quynh Anh Tran, Liem Thanh Nguyen   +8 more
doaj   +1 more source

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

bioRxiv, 2020
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.
Wonyoung Choi, E. Creasey, M. Lowe, R. Isberg   +3 more
semanticscholar   +1 more source