Lunardi J - Search Results

1

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J. Hichri H, et al. Among authors: lunardi j. Hum Mutat. 2011 Apr;32(4):379-88. doi: 10.1002/humu.21391. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21031565 Free article.

2

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

Coutton C, Monnier N, Rendu J, Lunardi J. Coutton C, et al. Among authors: lunardi j. Clin Biochem. 2010 Apr;43(6):609-14. doi: 10.1016/j.clinbiochem.2009.12.012. Epub 2010 Jan 4. Clin Biochem. 2010. PMID: 20043897

3

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. Montjean R, et al. Among authors: lunardi j. Hum Mol Genet. 2015 Feb 15;24(4):994-1006. doi: 10.1093/hmg/ddu514. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305077

4

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. Rendu J, et al. Among authors: lunardi j. Hum Mutat. 2017 Feb;38(2):152-159. doi: 10.1002/humu.23139. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27790796

5

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

Faucherre A, Desbois P, Satre V, Lunardi J, Dorseuil O, Gacon G. Faucherre A, et al. Among authors: lunardi j. Hum Mol Genet. 2003 Oct 1;12(19):2449-56. doi: 10.1093/hmg/ddg250. Epub 2003 Jul 29. Hum Mol Genet. 2003. PMID: 12915445

6

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

Faucherre A, Desbois P, Nagano F, Satre V, Lunardi J, Gacon G, Dorseuil O. Faucherre A, et al. Among authors: lunardi j. Hum Mol Genet. 2005 Jun 1;14(11):1441-8. doi: 10.1093/hmg/ddi153. Epub 2005 Apr 13. Hum Mol Genet. 2005. PMID: 15829501

7

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Satre V, et al. Among authors: lunardi j. Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443. Am J Hum Genet. 1999. PMID: 10364518 Free PMC article.

8

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mutat. 2000;16(2):157-65. doi: 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10923037

9

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mol Genet. 2003 May 15;12(10):1171-8. doi: 10.1093/hmg/ddg121. Hum Mol Genet. 2003. PMID: 12719381

10

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. Monnier N, et al. Among authors: lunardi j. Hum Mutat. 2005 Nov;26(5):413-25. doi: 10.1002/humu.20231. Hum Mutat. 2005. PMID: 16163667

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