| Clinical features and genetic analysis of 15 Chinese children with dent disease. | Clinical features and genetic analysis of 15 Chinese children with dent disease.
Li Q, Yang Z, Zang R, Liu S, Yu L, Wang J, Wang C, Wang X, Sun S., Free PMC Article | 08/28/2024 |
| Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome. | Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Du R, Zhou C, Chen S, Li T, Lin Y, Xu A, Huang Y, Mei H, Huang X, Tan D, Zheng R, Liang C, Cai Y, Shao Y, Zhang W, Liu L, Zeng C. | 08/28/2024 |
| OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses. | OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
Fuentealba LM, Pizarro H, Marzolo MP., Free PMC Article | 08/1/2024 |
| Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review. | Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
Zhang Y, Deng L, Chen X, Hu Y, Chen Y, Chen K, Zhou J., Free PMC Article | 07/25/2024 |
| Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane. | Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane.
Chen H, Lu C, Tan Y, Weber-Boyvat M, Zheng J, Xu M, Xiao J, Liu S, Tang Z, Lai C, Li M, Olkkonen VM, Yan D, Zhong W., Free PMC Article | 07/8/2023 |
| Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes. | Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Lee JJ, Ramadesikan S, Black AF, Christoffer C, Pacheco AFP, Subramanian S, Hanna CB, Barth G, Stauffacher CV, Kihara D, Aguilar RC., Free PMC Article | 05/22/2023 |
| Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations. | Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L, Wang S, Mao R, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y, Feng C, Lai EY, Ye Q, Mao J., Free PMC Article | 08/27/2022 |
| Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. | Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K. | 03/26/2022 |
| SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase. | SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
Choi WY, Kim S, Aurass P, Huo W, Creasey EA, Edwards M, Lowe M, Isberg RR., Free PMC Article | 02/19/2022 |
| Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome? | Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
Gianesello L, Arroyo J, Del Prete D, Priante G, Ceol M, Harris PC, Lieske JC, Anglani F., Free PMC Article | 02/12/2022 |
| Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes. | Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Ramadesikan S, Skiba L, Lee J, Madhivanan K, Sarkar D, De La Fuente A, Hanna CB, Terashi G, Hazbun T, Kihara D, Aguilar RC., Free PMC Article | 11/13/2021 |
| OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring. | OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.
Wang B, He W, Prosseda PP, Li L, Kowal TJ, Alvarado JA, Wang Q, Hu Y, Sun Y., Free PMC Article | 09/18/2021 |
| Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome. | Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Egot M, Lasne D, Poirault-Chassac S, Mirault T, Pidard D, Dreano E, Elie C, Gandrille S, Marchelli A, Baruch D, Rendu J, Fauré J, Flaujac C, Gratacap MP, Sié P, Gaussem P, Salomon R, Baujat G, Bachelot-Loza C. | 08/14/2021 |
| Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins. | Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.
Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC., Free PMC Article | 08/14/2021 |
| Onset mechanism of a female patient with Dent disease 2. | Onset mechanism of a female patient with Dent disease 2.
Okamoto T, Sakakibara N, Nozu K, Takahashi T, Hayashi A, Sato Y, Nagano C, Matsuo M, Iijima K, Manabe A. | 08/7/2021 |
| Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease. | Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease.
Deng H, Zhang Y, Xiao H, Yao Y, Zhang H, Liu X, Su B, Guan N, Zhong X, Wang S, Ding J, Wang F., Free PMC Article | 05/15/2021 |
| Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome. | Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
Nakano E, Yoshida A, Miyama Y, Yabuuchi T, Kajiho Y, Kanda S, Miura K, Oka A, Harita Y. | 05/8/2021 |
| Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease. | Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Ye Q, Shen Q, Rao J, Zhang A, Zheng B, Liu X, Shen Y, Chen Z, Wu Y, Hou L, Jian S, Wei M, Ma M, Sun S, Li Q, Dang X, Wang Y, Xu H, Mao J, for Chinese Children Genetic Kidney Disease Database (CCGKDD), “Internet Plus” Nephrology Alliance of National Center for Children's Care. | 11/28/2020 |
| This is the first report of an interstitial deletion encompassing OCRL and SMARCA1 gene in Lowe syndrome. | Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.
Zheng B, Chen Q, Wang C, Zhou W, Chen Y, Ding G, Jia Z, Zhang A, Huang S., Free PMC Article | 06/20/2020 |
| Mutation of OCRL1, the human orthologue of dOCRL, causes oculocerebrorenal Lowe syndrome, a rare multisystemic genetic disease. Both OCRL1 and dOCRL loss have been shown to promote accumulation of PtdIns(4,5)P2 on endosomes and cytokinesis defects | PTEN reduces endosomal PtdIns(4,5)P(2) in a phosphatase-independent manner via a PLC pathway.
Mondin VE, Ben El Kadhi K, Cauvin C, Jackson-Crawford A, Bélanger E, Decelle B, Salomon R, Lowe M, Echard A, Carréno S., Free PMC Article | 05/16/2020 |
| The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant | [Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].
Bai Z, Liu L, Hu S, Kong X. | 01/18/2020 |
| verify the interaction of LpnE(73-375) and LpnE(22-375) with Oculocerebrorenal syndrome of Lowe protein (OCRL) residues 10-208 | The structure of Legionella effector protein LpnE provides insights into its interaction with Oculocerebrorenal syndrome of Lowe (OCRL) protein.
Voth KA, Chung IYW, van Straaten K, Li L, Boniecki MT, Cygler M. | 11/9/2019 |
| OCRL gene variant has been identified in two pedigrees with varying phenotypes including isolated congenital cataract. | Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Shalaby AK, Emery-Billcliff P, Baralle D, Dabir T, Begum S, Waller S, Tabernero L, Lowe M, Self J., Free PMC Article | 06/1/2019 |
| We are reporting a 23-year-old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the OCRL gene detected a p.His375Arg mutation in the catalytic domain of the protein. The patient suffered from bilateral congenital cataracts and glaucoma, striking growth deficiency, severe psychomotor disability, a severe osteopathy, and seizures, but only minimal renal dysfunction | "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".
Abdalla E, El-Beheiry A, Dieterich K, Thevenon J, Fauré J, Rendu J. | 01/12/2019 |
| Study has identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2. | Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
Song E, Luo N, Alvarado JA, Lim M, Walnuss C, Neely D, Spandau D, Ghaffarieh A, Sun Y., Free PMC Article | 12/22/2018 |