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Items: 1 to 50 of 62

1.

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.

Charfeddine C, Dallali H, Abdessalem G, Ghedira K, Hamdi Y, Elouej S, Landoulsi Z, Delague V, Lagarde A, Levy N, El-Amraoui A, Boubaker MS, Abdelhak S, Mokni M.

J Hum Genet. 2020 Jan 7. doi: 10.1038/s10038-019-0711-4. [Epub ahead of print]

PMID:
31911611
2.

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR.

EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26.

3.

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.

Dulon D, Papal S, Patni P, Cortese M, Vincent PF, Tertrais M, Emptoz A, Tlili A, Bouleau Y, Michel V, Delmaghani S, Aghaie A, Pepermans E, Alegria-Prevot O, Akil O, Lustig L, Avan P, Safieddine S, Petit C, El-Amraoui A.

J Clin Invest. 2018 Aug 1;128(8):3382-3401. doi: 10.1172/JCI94351. Epub 2018 Jul 9.

4.

Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.

Trouillet A, Dubus E, Dégardin J, Estivalet A, Ivkovic I, Godefroy D, García-Ayuso D, Simonutti M, Sahly I, Sahel JA, El-Amraoui A, Petit C, Picaud S.

Sci Rep. 2018 Jan 31;8(1):1968. doi: 10.1038/s41598-018-20171-0.

5.

Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ.

Clin Genet. 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. Epub 2018 Feb 12.

6.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A.

EMBO Mol Med. 2017 Dec;9(12):1711-1731. doi: 10.15252/emmm.201708087.

7.

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.

Bahloul A, Pepermans E, Raynal B, Wolff N, Cordier F, England P, Nouaille S, Baron B, El-Amraoui A, Hardelin JP, Durand D, Petit C.

FEBS Lett. 2017 Aug;591(15):2299-2310. doi: 10.1002/1873-3468.12729. Epub 2017 Jul 10.

8.

Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.

Schietroma C, Parain K, Estivalet A, Aghaie A, Boutet de Monvel J, Picaud S, Sahel JA, Perron M, El-Amraoui A, Petit C.

J Cell Biol. 2017 Jun 5;216(6):1849-1864. doi: 10.1083/jcb.201612030. Epub 2017 May 11.

9.

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians.

Cortese M, Papal S, Pisciottano F, Elgoyhen AB, Hardelin JP, Petit C, Franchini LF, El-Amraoui A.

Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):2054-2059. doi: 10.1073/pnas.1618778114. Epub 2017 Feb 8.

10.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD.

Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444.

11.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

12.

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch-Grau M, Aghaie A, Perfettini I, Dupont T, Avan P, El-Amraoui A, Petit C.

J Cell Biol. 2016 Jan 18;212(2):231-44. doi: 10.1083/jcb.201509017. Epub 2016 Jan 11.

13.

Ertl below-knee amputation using a vascularized fibular strut in a nontrauma elderly population: a case series.

Brown BJ, Iorio ML, Hill L, Klement M, Conti Mica MR, El-Amraoui A, Attinger CE.

Ann Plast Surg. 2014 Aug;73(2):196-201. doi: 10.1097/SAP.0b013e318273f740.

PMID:
25014326
14.

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells.

Kamiya K, Michel V, Giraudet F, Riederer B, Foucher I, Papal S, Perfettini I, Le Gal S, Verpy E, Xia W, Seidler U, Georgescu MM, Avan P, El-Amraoui A, Petit C.

Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9307-12. doi: 10.1073/pnas.1405322111. Epub 2014 Jun 11.

15.

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.

El-Amraoui A, Petit C.

C R Biol. 2014 Mar;337(3):167-77. doi: 10.1016/j.crvi.2013.12.004. Epub 2014 Mar 20. Review.

PMID:
24702843
16.

Outcomes after 294 transtibial amputations with the posterior myocutaneous flap.

Brown BJ, Iorio ML, Klement M, Conti Mica MR, El-Amraoui A, O'Halloran P, Attinger CE.

Int J Low Extrem Wounds. 2014 Mar;13(1):33-40. doi: 10.1177/1534734614520706. Epub 2014 Feb 6.

PMID:
24510319
17.

Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.

Lhériteau E, Petit L, Weber M, Le Meur G, Deschamps JY, Libeau L, Mendes-Madeira A, Guihal C, François A, Guyon R, Provost N, Lemoine F, Papal S, El-Amraoui A, Colle MA, Moullier P, Rolling F.

Mol Ther. 2014 Feb;22(2):265-277. doi: 10.1038/mt.2013.232. Epub 2013 Oct 4.

18.

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.

Papal S, Cortese M, Legendre K, Sorusch N, Dragavon J, Sahly I, Shorte S, Wolfrum U, Petit C, El-Amraoui A.

Hum Mol Genet. 2013 Sep 15;22(18):3773-88. doi: 10.1093/hmg/ddt228. Epub 2013 May 23.

PMID:
23704327
19.

Cadherin defects in inherited human diseases.

El-Amraoui A, Petit C.

Prog Mol Biol Transl Sci. 2013;116:361-84. doi: 10.1016/B978-0-12-394311-8.00016-9. Review.

PMID:
23481203
20.

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A, Ebermann I, Lelli A, Iribarne M, Hardelin JP, Weil D, Sahel JA, El-Amraoui A, Petit C.

J Cell Biol. 2012 Oct 15;199(2):381-99. doi: 10.1083/jcb.201202012. Epub 2012 Oct 8.

21.

The auditory hair cell ribbon synapse: from assembly to function.

Safieddine S, El-Amraoui A, Petit C.

Annu Rev Neurosci. 2012;35:509-28. doi: 10.1146/annurev-neuro-061010-113705. Review.

PMID:
22715884
22.

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

Bonnet C, El-Amraoui A.

Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2. Review.

PMID:
22185901
23.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F.

Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.

24.

[Stem cell therapy in the inner ear: recent achievements and prospects].

El-Amraoui A, Petit C.

Med Sci (Paris). 2010 Nov;26(11):981-5. doi: 10.1051/medsci/20102611981. Review. French.

25.

Cadherins as targets for genetic diseases.

El-Amraoui A, Petit C.

Cold Spring Harb Perspect Biol. 2010 Jan;2(1):a003095. doi: 10.1101/cshperspect.a003095. Review.

26.

[The outer hair cell of the mammalian cochlea: an outstanding amplifier].

Legendre K, Petit C, El-Amraoui A.

Med Sci (Paris). 2009 Feb;25(2):117-20. doi: 10.1051/medsci/2009252117. French. No abstract available.

27.

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells.

Legendre K, Safieddine S, Küssel-Andermann P, Petit C, El-Amraoui A.

J Cell Sci. 2008 Oct 15;121(Pt 20):3347-56. doi: 10.1242/jcs.028134. Epub 2008 Sep 16.

28.

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions.

Etournay R, Zwaenepoel I, Perfettini I, Legrain P, Petit C, El-Amraoui A.

J Cell Sci. 2007 Aug 15;120(Pt 16):2838-50. Epub 2007 Jul 31.

29.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Adato A, Lefèvre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C.

Hum Mol Genet. 2005 Dec 15;14(24):3921-32. Epub 2005 Nov 21.

PMID:
16301217
30.
31.

Vezatin, a protein associated to adherens junctions, is required for mouse blastocyst morphogenesis.

Hyenne V, Louvet-Vallée S, El-Amraoui A, Petit C, Maro B, Simmler MC.

Dev Biol. 2005 Nov 1;287(1):180-91. Epub 2005 Sep 29.

32.

[Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles].

El-Amraoui A, Lefèvre G, Hardelin JP, Petit C.

Med Sci (Paris). 2005 Aug-Sep;21(8-9):737-40. Review. French.

33.

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.

Etournay R, El-Amraoui A, Bahloul A, Blanchard S, Roux I, Pézeron G, Michalski N, Daviet L, Hardelin JP, Legrain P, Petit C.

J Cell Sci. 2005 Jul 1;118(Pt 13):2891-9.

34.

Interactions in the network of Usher syndrome type 1 proteins.

Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C.

Hum Mol Genet. 2005 Feb 1;14(3):347-56. Epub 2004 Dec 8.

PMID:
15590703
35.

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.

Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, Petit C.

Hum Mol Genet. 2005 Feb 1;14(3):401-10. Epub 2004 Dec 8.

PMID:
15590698
36.

Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells.

Sousa S, Cabanes D, El-Amraoui A, Petit C, Lecuit M, Cossart P.

J Cell Sci. 2004 Apr 15;117(Pt 10):2121-30.

37.

Effect of Retama raetam on lipid metabolism in normal and recent-onset diabetic rats.

Maghrani M, Lemhadri A, Zeggwagh NA, El Amraoui A, Haloui M, Jouad H, Eddouks M.

J Ethnopharmacol. 2004 Feb;90(2-3):323-9.

PMID:
15013197
38.

Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites.

Desnos C, Schonn JS, Huet S, Tran VS, El-Amraoui A, Raposo G, Fanget I, Chapuis C, Ménasché G, de Saint Basile G, Petit C, Cribier S, Henry JP, Darchen F.

J Cell Biol. 2003 Nov 10;163(3):559-70.

39.

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

Reiners J, Reidel B, El-Amraoui A, Boëda B, Huber I, Petit C, Wolfrum U.

Invest Ophthalmol Vis Sci. 2003 Nov;44(11):5006-15.

PMID:
14578428
40.

Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis.

Waselle L, Coppola T, Fukuda M, Iezzi M, El-Amraoui A, Petit C, Regazzi R.

Mol Biol Cell. 2003 Oct;14(10):4103-13. Epub 2003 Aug 7.

41.

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.

Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD.

Nat Genet. 2003 Aug;34(4):421-8.

PMID:
12833159
42.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C.

Hum Mol Genet. 2003 Mar 1;12(5):463-71.

PMID:
12588794
43.

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C.

EMBO J. 2002 Dec 16;21(24):6689-99.

44.

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

El-Amraoui A, Schonn JS, Küssel-Andermann P, Blanchard S, Desnos C, Henry JP, Wolfrum U, Darchen F, Petit C.

EMBO Rep. 2002 May;3(5):463-70. Epub 2002 Apr 18.

45.

Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.

El-Amraoui A, Cohen-Salmon M, Petit C, Simmler MC.

Hear Res. 2001 Aug;158(1-2):151-9.

PMID:
11506947
46.

[Screening for diabetic retinopathy with ophthalmoscopy: the contribution of non-ophthalmologist practitioners seems possible].

Chadli A, Kebbou M, Ababou M, El Mansouri Y, El Amraoui A.

Diabetes Metab. 2000 Dec;26(6):497-9. French.

PMID:
11173722
47.

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex.

Küssel-Andermann P, El-Amraoui A, Safieddine S, Nouaille S, Perfettini I, Lecuit M, Cossart P, Wolfrum U, Petit C.

EMBO J. 2000 Nov 15;19(22):6020-9.

48.

Unconventional myosin VIIA is a novel A-kinase-anchoring protein.

Küssel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, Petit C.

J Biol Chem. 2000 Sep 22;275(38):29654-9.

49.

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

Kharkovets T, Hardelin JP, Safieddine S, Schweizer M, El-Amraoui A, Petit C, Jentsch TJ.

Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4333-8.

50.

Targeted disruption of otog results in deafness and severe imbalance.

Simmler MC, Cohen-Salmon M, El-Amraoui A, Guillaud L, Benichou JC, Petit C, Panthier JJ.

Nat Genet. 2000 Feb;24(2):139-43.

PMID:
10655058

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