Results 121 to 130 of about 87,553 (201)

Lowe's Syndrome [PDF]

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

Profile of childhood cataract cases at the Philippine General Hospital

Philippine Journal of Ophthalmology, 2004
Objective: The study determined the major causes of childhood cataract among patients seen at the pediatric ophthalmology clinic of the University of the Philippines-Philippine General Hospital (UP-PGH).
Jose V. Tecson, III, MD, Alvina Pauline D. Santiago, MD   +1 more
doaj  

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

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts. [PDF]

Hum Mol Genet
Chen S, Lo CH, Liu Z, Wang Q, Ning K, Li T, Sun Y.   +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

Genotype and phenotype studies of Lowe syndrome in three families in Taiwan

Pediatrics and Neonatology, 2021
Kuan-Jung Chen, Hsin-Ru Wu, Mei-Chyn Chao, Tung-Ming Chang, Jien-Wen Chien, Ming Chen, Gwo-Chin Ma, Yu-Yuan Ke   +7 more
doaj   +1 more source