Results 111 to 120 of about 1,281 (185)

Barriers to care and the need for dental educational materials for the Lowe syndrome community: a survey of dentists. [PDF]

PeerJ
Lowenstein A, Finkelman M, Dalal J, Smith C, Ogunyinka G, Tesini D, Mourão CF.   +6 more
europepmc   +1 more source

Microbiology Profiles and Antibiotic Susceptibility in Pediatric Microbial Keratitis. [PDF]

Cornea
Cheng MY, Chea PD, Latifi G, Garner OB, Deng SX, Fung SSM.   +5 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

Dysregulation of Inositol Polyphosphate 5-Phosphatase OCRL in Alzheimer's Disease: Implications for Autophagy Dysfunction. [PDF]

Int J Mol Sci
Ando K, Thazin Htut M, Antonelli EM, Kosa AC, Lopez-Gutierrez L, Quintanilla-Sánchez C, Aydin E, Doeraene E, Nagaraj S, Ramos AR, Coulonval K, Roger PP, Brion JP, Leroy K.   +13 more
europepmc   +1 more source

Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria. [PDF]

Pediatr Nephrol
Sakakibara N, Nozu K.
europepmc   +1 more source

Role of lipids in the control of autophagy and primary cilium signaling in neurons. [PDF]

Neural Regen Res
Hernández-Cáceres MP, Pinto-Nuñez D, Rivera P, Burgos P, Díaz-Castro F, Criollo A, Yañez MJ, Morselli E.   +7 more
europepmc   +1 more source

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome. [PDF]

Biomedicines
Delas F, Gloggnitzer J, Maspoli A, Kurmann L, Frueh BE, Dacheva I, Hildebrand D, Berger W, Gerth-Kahlert C.   +8 more
europepmc   +1 more source

Targeting clathrin-mediated endocytosis: recent advances in inhibitor development, mechanistic insights, and therapeutic prospects. [PDF]

RSC Med Chem
Zhang C, Guo J, Liu Z, Huang X, Dong S, Hu C, Xiao J.   +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