Results 91 to 100 of about 13,537 (162)

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

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations. [PDF]

J Neurodev Disord, 2020
Liu H, Barnes J, Pedrosa E, Herman NS, Salas F, Wang P, Zheng D, Lachman HM.   +7 more
europepmc   +1 more source

Gonadotrophin abnormalities in an infant with Lowe syndrome. [PDF]

Endocrinol Diabetes Metab Case Rep, 2017
Warner BE, Inward CD, Burren CP.
europepmc   +1 more source

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

Hum Mol Genet, 2019
Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O.   +14 more
europepmc   +1 more source

Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in <i>Dictyostelium discoideum</i>. [PDF]

Mol Biol Cell, 2019
Luscher A, Fröhlich F, Barisch C, Littlewood C, Metcalfe J, Leuba F, Palma A, Pirruccello M, Cesareni G, Stagi M, Walther TC, Soldati T, De Camilli P, Swan LE.   +13 more
europepmc   +1 more source

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. [PDF]

Genes (Basel), 2018
Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F.   +3 more
europepmc   +1 more source

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. [PDF]

J Am Soc Nephrol, 2017
Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S.   +9 more
europepmc   +1 more source

Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome. [PDF]

Eye (Lond), 2016
Mikhail M, Modabber M, Koenekoop RK, Braverman N, Khan A.   +4 more
europepmc   +1 more source

Exome-first approach identified a novel gloss deletion associated with Lowe syndrome. [PDF]

Hum Genome Var, 2016
Watanabe M, Nakagawa R, Kohmoto T, Naruto T, Suga KI, Goji A, Horikawa H, Masuda K, Kagami S, Imoto I.   +9 more
europepmc   +1 more source

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex. [PDF]

PLoS One, 2018
Hsieh WC, Ramadesikan S, Fekete D, Aguilar RC.   +3 more
europepmc   +1 more source