140 related articles for article (PubMed ID: 22965764)
1. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
Schroer RJ; Beaudet AL; Shinawi M; Sahoo T; Patel A; Sun Q; Skinner C; Stevenson RE
Am J Med Genet A; 2012 Oct; 158A(10):2602-5. PubMed ID: 22965764
[TBL] [Abstract][Full Text] [Related]
2. A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
Addis M; Meloni C; Congiu R; Santaniello S; Emma F; Zuffardi O; Ciccone R; Cao A; Melis MA; Cau M
Eur J Med Genet; 2007; 50(1):79-84. PubMed ID: 17142121
[TBL] [Abstract][Full Text] [Related]
3. 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
Clin Exp Nephrol; 2020 Oct; 24(10):946-954. PubMed ID: 32666344
[TBL] [Abstract][Full Text] [Related]
4. [Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].
Shi RM; Bian XH; Li LM; Liu XH
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Apr; 16(4):366-9. PubMed ID: 24750831
[TBL] [Abstract][Full Text] [Related]
5. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Montjean R; Aoidi R; Desbois P; Rucci J; Trichet M; Salomon R; Rendu J; Fauré J; Lunardi J; Gacon G; Billuart P; Dorseuil O
Hum Mol Genet; 2015 Feb; 24(4):994-1006. PubMed ID: 25305077
[TBL] [Abstract][Full Text] [Related]
6. Loss of OCRL increases ciliary PI(4,5)P
Prosseda PP; Luo N; Wang B; Alvarado JA; Hu Y; Sun Y
J Cell Sci; 2017 Oct; 130(20):3447-3454. PubMed ID: 28871046
[TBL] [Abstract][Full Text] [Related]
7. Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Rendu J; Montjean R; Coutton C; Suri M; Chicanne G; Petiot A; Brocard J; Grunwald D; Pietri Rouxel F; Payrastre B; Lunardi J; Dorseuil O; Marty I; Fauré J
Hum Mutat; 2017 Feb; 38(2):152-159. PubMed ID: 27790796
[TBL] [Abstract][Full Text] [Related]
8. Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.
Sun J; Zhou Z; Weng C; Wang C; Chen J; Feng X; Yu P; Qi M
Clin Exp Nephrol; 2020 Aug; 24(8):657-665. PubMed ID: 32394213
[TBL] [Abstract][Full Text] [Related]
9. Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.
Gao Y; Jiang F; Ou ZY
World J Pediatr; 2016 Nov; 12(4):484-488. PubMed ID: 27059748
[TBL] [Abstract][Full Text] [Related]
10. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
Luo N; West CC; Murga-Zamalloa CA; Sun L; Anderson RM; Wells CD; Weinreb RN; Travers JB; Khanna H; Sun Y
Hum Mol Genet; 2012 Aug; 21(15):3333-44. PubMed ID: 22543976
[TBL] [Abstract][Full Text] [Related]
11. 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
J Hum Genet; 2020 Oct; 65(10):831-839. PubMed ID: 32427950
[TBL] [Abstract][Full Text] [Related]
12. [Lowe syndrome(oculocerebrorenal syndrome of Lowe; OCRL)].
Ohno K
Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):489-90. PubMed ID: 11032004
[No Abstract] [Full Text] [Related]
13. [Lowe syndrome].
Nakabayashi H
Nihon Rinsho; 2006 Sep; Suppl 3():468-72. PubMed ID: 17022589
[No Abstract] [Full Text] [Related]
14. 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
Br J Haematol; 2021 Mar; 192(5):909-921. PubMed ID: 33528045
[TBL] [Abstract][Full Text] [Related]
15. 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
Mol Genet Genomic Med; 2019 Sep; 7(9):e876. PubMed ID: 31376231
[TBL] [Abstract][Full Text] [Related]
16. OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
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
Hum Mol Genet; 2019 Jun; 28(12):1931-1946. PubMed ID: 30590522
[TBL] [Abstract][Full Text] [Related]
17. Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.
Sethi S; Sethi N; Mehta S; Kaur S; Makkar V; Sohal PM
Saudi J Kidney Dis Transpl; 2020; 31(1):285-288. PubMed ID: 32129227
[TBL] [Abstract][Full Text] [Related]
18. Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.
Chen S; Lo CH; Liu Z; Wang Q; Ning K; Li T; Sun Y
Hum Mol Genet; 2024 Jun; 33(13):1142-1151. PubMed ID: 38557732
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of OCRL gene mutation in a male infant with Lowe syndrome].
Chen S; Zhang X; Chen L; Tian Q; Jiang W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):223-7. PubMed ID: 24711037
[TBL] [Abstract][Full Text] [Related]
20. Novel OCRL mutations in Chinese children with Lowe syndrome.
Zhang YQ; Wang F; Ding J; Yan H; Yang YL
World J Pediatr; 2013 Feb; 9(1):53-7. PubMed ID: 23389333
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
