PMC Links for Gene (Select 4952) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 92

<< First< Prev

Page of 5

Select item 102799161.

Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P₂ hydrolysis in the plasma membrane

Huanzhao Chen, Chen Lu, Yuhui Tan, Marion Weber-Boyvat, Jie Zheng, Mengyang Xu, Jie Xiao, Shuang Liu, Zhiquan Tang, Chaofeng Lai, Mingchuan Li, Vesa M. Olkkonen, Daoguang Yan, Wenbin Zhong

J Biol Chem. 2023 Jun; 299(6): 104812. Published online 2023 May 11. doi: 10.1016/j.jbc.2023.104812

PMCID:: PMC10279916

Abstract Article PDF–2.6M

Select item 101359752.

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes

Jennifer J. Lee, Swetha Ramadesikan, Adrianna F. Black, Charles Christoffer, Andres F. Pacheco Pacheco, Sneha Subramanian, Claudia B. Hanna, Gillian Barth, Cynthia V. Stauffacher, Daisuke Kihara, Ruben Claudio Aguilar

Biomolecules. 2023 Apr; 13(4): 615. Published online 2023 Mar 29. doi: 10.3390/biom13040615

PMCID:: PMC10135975

Abstract Article PDF–3.0M

Select item 93253423.

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao

Genet Res (Camb) 2022; 2022: 1473260. Published online 2022 Jul 19. doi: 10.1155/2022/1473260

PMCID:: PMC9325342

Abstract Article PDF–628K

Select item 85357154.

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Lisa Gianesello, Jennifer Arroyo, Dorella Del Prete, Giovanna Priante, Monica Ceol, Peter C. Harris, John C. Lieske, Franca Anglani

Genes (Basel) 2021 Oct; 12(10): 1597. Published online 2021 Oct 11. doi: 10.3390/genes12101597

PMCID:: PMC8535715

Abstract Article PDF–1.8M

Select item 84226505.

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen, Jianhua Zhou

BMC Med Genomics. 2021; 14: 219. Published online 2021 Sep 6. doi: 10.1186/s12920-021-01069-9

PMCID:: PMC8422650

Abstract Article PDF–2.9M

Select item 80910386.

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes

Swetha Ramadesikan, Lisette Skiba, Jennifer Lee, Kayalvizhi Madhivanan, Daipayan Sarkar, Agustina De La Fuente, Claudia B Hanna, Genki Terashi, Tony Hazbun, Daisuke Kihara, R Claudio Aguilar

Hum Mol Genet. 2021 Feb 1; 30(3-4): 198–212. Published online 2021 Jan 30. doi: 10.1093/hmg/ddab025

PMCID:: PMC8091038

Abstract Article PDF–1.5M

Select item 63349807.

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract

Ahmed K. Shalaby, Peter Emery-Billcliff, Diana Baralle, Tabib Dabir, Shahiba Begum, Sarah Waller, Lydia Tabernero, Martin Lowe, James Self

Mol Vis. 2018; 24: 847–852. Published online 2018 Dec 31.

PMCID:: PMC6334980

Abstract Article PDF–2.4M

Select item 56654448.

Loss of OCRL increases ciliary PI(4,5)P₂ in Lowe oculocerebrorenal syndrome

Philipp P. Prosseda, Na Luo, Biao Wang, Jorge A. Alvarado, Yang Hu, Yang Sun

J Cell Sci. 2017 Oct 15; 130(20): 3447–3454. doi: 10.1242/jcs.200857

PMCID:: PMC5665444

Abstract Article

Select item 54314549.

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Emilie Song, Na Luo, Jorge A. Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun

Sci Rep. 2017; 7: 1442. Published online 2017 May 4. doi: 10.1038/s41598-017-01447-3

PMCID:: PMC5431454

Abstract Article PDF–4.1M

Select item 469476510.

OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates

Peter G. Billcliff, Christopher J. Noakes, Zenobia B. Mehta, Guanhua Yan, LokHang Mak, Rudiger Woscholski, Martin Lowe

Mol Biol Cell. 2016 Jan 1; 27(1): 90–107. doi: 10.1091/mbc.E15-06-0329

PMCID:: PMC4694765

Abstract Article PDF–6.8M

Select item 344882411.

Duplication of OCRL and Adjacent Genes Associated with Autism but not Lowe Syndrome

Richard J. Schroer, Arthur L. Beaudet, Marwan Shinawi, Trilochan Sahoo, Ankita Patel, Qin Sun, Cindy Skinner, Roger E. Stevenson

Am J Med Genet A. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Am J Med Genet A. 2012 Oct; 158A(10): 2602–2605. Published online 2012 Sep 10. doi: 10.1002/ajmg.a.35566

PMCID:: PMC3448824

Abstract Article PDF–1.5M

Select item 333997812.

Phosphatidylinositol 5-Phosphatase Oculocerebrorenal Syndrome of Lowe Protein (OCRL) Controls Actin Dynamics during Early Steps of Listeria monocytogenes Infection

Andreas Kühbacher, Daphné Dambournet, Arnaud Echard, Pascale Cossart, Javier Pizarro-Cerdá

J Biol Chem. 2012 Apr 13; 287(16): 13128–13136. Published online 2012 Feb 18. doi: 10.1074/jbc.M111.315788

PMCID:: PMC3339978

Abstract Article PDF–2.9M

Select item 324207113.

OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin

Mariella Vicinanza, Antonella Di Campli, Elena Polishchuk, Michele Santoro, Giuseppe Di Tullio, Anna Godi, Elena Levtchenko, Maria Giovanna De Leo, Roman Polishchuk, Lisette Sandoval, Maria-Paz Marzolo, Maria Antonietta De Matteis

EMBO J. 2011 Dec 14; 30(24): 4970–4985. Published online 2011 Oct 4. doi: 10.1038/emboj.2011.354

PMCID:: PMC3242071

Abstract Article PDF–3.4M

Select item 316202014.

Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells

Adam G. Grieve, Rachel D. Daniels, Elena Sanchez-Heras, Matthew J. Hayes, Stephen E. Moss, Karl Matter, Martin Lowe, Timothy P. Levine

PLoS One. 2011; 6(8): e24044. Published online 2011 Aug 25. doi: 10.1371/journal.pone.0024044

PMCID:: PMC3162020

Abstract Article PDF–1.1M

Select item 313082415.

Recognition of the F&H motif by the Lowe Syndrome protein OCRL

Michelle Pirruccello, Laura E. Swan, Ewa Folta-Stogniew, Pietro De Camilli

Nat Struct Mol Biol. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: Nat Struct Mol Biol. 2011 Jul; 18(7): 789–795. Published online 2011 Jun 12. doi: 10.1038/nsmb.2071

PMCID:: PMC3130824

Abstract Article PDF–2.1M

Select item 202568316.

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

Kai S. Erdmann, Yuxin Mao, Heather J. McCrea, Roberto Zoncu, Sangyoon Lee, Summer Paradise, Jan Modregger, Daniel Biemesderfer, Derek Toomre, Pietro De Camilli

Dev Cell. Author manuscript; available in PMC 2008 Sep 1.

Published in final edited form as: Dev Cell. 2007 Sep; 13(3): 377–390. doi: 10.1016/j.devcel.2007.08.004

PMCID:: PMC2025683

Abstract Article PDF–5.0M

Select item 171614217.

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

T Lin, B M Orrison, A M Leahey, S F Suchy, D J Bernard, R A Lewis, R L Nussbaum

Am J Hum Genet. 1997 Jun; 60(6): 1384–1388. doi: 10.1086/515471

PMCID:: PMC1716142

Summary Page Browse PDF–947K

Select item 168317518.

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

O T Mueller, J K Hartsfield, Jr, L A Gallardo, Y P Essig, K L Miller, P R Papenhausen, T A Tedesco

Am J Hum Genet. 1991 Oct; 49(4): 804–810.

PMCID:: PMC1683175

Summary Page Browse PDF–1.2M

Select item 119637119.

Dent Disease with Mutations in OCRL1

Richard R. Hoopes, Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, Janos Matyus, Ari Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Scheinman

Am J Hum Genet. 2005 Feb; 76(2): 260–267. Published online 2004 Dec 30. doi: 10.1086/427887

Correction in:: Am J Hum Genet. 2007 Sep; 81(3): 634.

PMCID:: PMC1196371

Abstract Article PDF–165K

Select item 37858420.

The Deficiency of PIP₂ 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

Sharon F. Suchy, Robert L. Nussbaum

Am J Hum Genet. 2002 Dec; 71(6): 1420–1427. Published online 2002 Nov 11. doi: 10.1086/344517

PMCID:: PMC378584

Abstract Article PDF–790K

<< First< Prev

Page of 5

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Links for Gene (Select 4952) (92)
PMC
Homo sapiens homer scaffold protein 3 (HOMER3), transcript variant 5, non-coding...
Homo sapiens homer scaffold protein 3 (HOMER3), transcript variant 5, non-coding RNA
gi|224809456|ref|NR_027297.1|

Nucleotide
Homo sapiens full open reading frame cDNA clone RZPDo834E1024D for gene RFXANK, ...
Homo sapiens full open reading frame cDNA clone RZPDo834E1024D for gene RFXANK, regulatory factor X-associated ankyrin-containing protein; complete cds, without stopcodon
gi|49457393|emb|CR542199.1|

Nucleotide
Homo sapiens OCRL inositol polyphosphate-5-phosphatase (OCRL), transcript varian...
Homo sapiens OCRL inositol polyphosphate-5-phosphatase (OCRL), transcript variant b, mRNA
gi|1677498650|ref|NM_001587.4|

Nucleotide
terminal uridylyltransferase 4 isoform X27 [Homo sapiens]
terminal uridylyltransferase 4 isoform X27 [Homo sapiens]
gi|2462506971|ref|XP_054191514.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

You are here: NCBI > Literature > PubMed Central (PMC)

Support Center

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: