Results 81 to 90 of about 13,537 (162)

Mitochondrial structure and function in OCRL depleted cells

Frontiers in Cell and Developmental Biology
Lowe syndrome (LS) is an X-linked, recessive disease with a characteristic clinical triad of eye, brain, and kidney defects. LS results from mutations in the OCRL gene that encodes for inositol polyphosphate 5-phosphatase enzyme.
Ron George Philip, Ron George Philip, Priyanka Bhatia, Yojet Sharma, Yojet Sharma, Padinjat Raghu   +5 more
doaj   +1 more source

Ultrasound evaluation on carpal tunnel syndrome before and after bariatric surgery

Revista do Colégio Brasileiro de Cirurgiões
Objective:To evaluate the prevalence of carpal tunnel syndrome in candidates for bariatric surgery comparing with the non-obese population and verify the effects on it of bariatric treatment.
Adham do Amaral e Castro, Thelma Larocca Skare, Paulo Afonso Nunes Nassif, Alexandre Kaue Sakuma, Bruno Luiz Ariede, Wagner Haese Barros   +5 more
doaj   +1 more source

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome? [PDF]

Genes (Basel), 2021
Gianesello L, Arroyo J, Del Prete D, Priante G, Ceol M, Harris PC, Lieske JC, Anglani F.   +7 more
europepmc   +1 more source

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome. [PDF]

EMBO Mol Med
Sharma Y, Bhatia P, Rangappa G, Saha S, Raghu P.   +4 more
europepmc   +2 more sources

Lowe's Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1964
J B Dundas, D G Cottom
openaire   +1 more source

Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome. [PDF]

Intractable Rare Dis Res, 2020
Perdomo-Ramirez A, Antón-Gamero M, Rizzo DS, Trindade A, Ramos-Trujillo E, Claverie-Martin F.   +5 more
europepmc   +1 more source

Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model. [PDF]

J Am Soc Nephrol, 2020
Gliozzi ML, Espiritu EB, Shipman KE, Rbaibi Y, Long KR, Roy N, Duncan AW, Lazzara MJ, Hukriede NA, Baty CJ, Weisz OA.   +10 more
europepmc   +1 more source

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins. [PDF]

Hum Mol Genet, 2020
Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC.   +6 more
europepmc   +1 more source

Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase. [PDF]

CEN Case Rep, 2020
Yamamoto K, Hasegawa Y, Ohata Y, Satomura K, Mizoguchi Y, Shimotsuji T, Yamamoto T.   +6 more
europepmc   +1 more source

The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease. [PDF]

Kidney Int, 2020
Berquez M, Gadsby JR, Festa BP, Butler R, Jackson SP, Berno V, Luciani A, Devuyst O, Gallop JL.   +8 more
europepmc   +1 more source