Crystel Bonnet

Présentation

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Crystel Bonnet

Née le 10 juillet 1973

Mariée, 2 enfants

CURSUS UNIVERSITAIRE ET PARCOURS PROFESSIONNEL

¨ Depuis Janv 2020 : Ingénieur de recherche confirmé, Institut Pasteur, Institut de l’Audition

Sujet: Presbyacousie: identifier les gènes responsables de surdité liée à l'âge.

¨ 2010-2019 : Ingénieur de recherche Unité de Génétique et Physiologie de l’Audition

INSERM UMRS1120, Institut Pasteur et Institut de la Vision.

Sujet: Identification des mutations causales chez des patients présentant une surdité isolée et/ou syndromique.

¨ 2008-2010 : Stage post-doctoral (Paris VI, Hôpital Trousseau). Direction : F. Denoyelle.

Laboratoire Unité de Génétique des déficits sensoriels INSERM UMRS587.

Sujet : Séquençage des 9 gènes Usher connus : divergence génotype/phénotype et recherche de digénisme

¨ 2004-2008 : Stage post-doctoral (Paris VI, Hôpital St-Antoine). Direction : M. Corral-Debrinski. Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine. INSERM U592.

Sujet : Localisation des ARNm à la surface mitochondriale : outil de diagnostic et de traite- ment des dégénérescences rétiniennes

¨ 2002-2004 : Stage post-doctoral (Paris XI). Direction : V. Berteaux-Lecellier. Laboratoire Reproduction Sexuée, Traduction et Différenciation. Institut de Génétique et Microbiologie UMR 8621.

Sujet : Rôle du peroxysome dans la différenciation cellulaire chez le champignon filamenteux Podospora anserina

¨ 1998-2001 : Thèse de l'Université Pierre et Marie Curie (Paris VI). Direction : P. Denoulet Laboratoire de Biochimie Cellulaire, UMR 7098, Université Paris VI

Sujet : Etude des interactions entre les tubulines et leurs protéines associées : rôle de la polyglutamylation dans la régulation de ces interactions (soutenue le 21 décembre 2001)

¨ 1997-1998 : 3ème année du magistère de Biologie-Biochimie (ENS Ulm)

DEA &quot;Structure, Fonction et Ingénierie des Protéines&quot; (Paris VI). Direction : P. Denoulet, Laboratoire de Biochimie Cellulaire, UPR 9065, Collège de France

Sujet : Purification de MAP1A murine : régulation de sa liaison à la tubuline par la polygluta- mylation

Brevet

Importation of mitochondrial protein by an enhanced allotopic approach. M. Corral-Debrinski, J.-A. Sahel, V. Kaltimbacher, C. Bonnet N°: PCT/EP 2006/005323. Date de Dépôt : 05/06/08.

Prix : Obtention de la bourse de la Fédération des Aveugles et Handicapés Visuels de France, 2005.

Collaboration

- Collaboration Hubert Curien Tassili- Akila Zenati- Laboratoire of Biochimie génétique – Université d'Alger- Faculté de Médecine ; CHU de Bab-El-Oued- Bd Said Touati - Alger

- Collaboration Institut Pasteur de Tunis- Sonia Abdelhak- Laboratoire de Génomique Biomédicale et Oncogénétique-Tunis

- Treatrush Consortium

Encadrement

Encadrement de M1, M2, Doctorant, Post-Doctorant, Ingénieur

- Sophie Boucher, M2

- Zied Riahi, Doctorant

- Samia Abdi, Doctorante

- Asma Behlouli, Doctorante

- Mouna Hadrami, Doctorante

- Malika Dahmani, Doctorante

- Sonia Talbi, Doctorante

Publications

Article dans une revue (67)

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder Amal Bouzid,Malek Belcadhi,Amal Souissi,Meryam Chelly,Fakher Frikhaet al. Scientific Reports, 2025, 15 (1), pp.367. ⟨10.1038/s41598-024-83115-x⟩ Article dans une revue pasteur-05002930v1
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment Malak Salame,Crystel Bonnet,Amrit Singh-Estivalet,Selma Mohamed Brahim,Solene Rouxet al. Journal of Applied Genetics, 2025, 66 (4), pp.925-932. ⟨10.1007/s13353-024-00903-x⟩ Article dans une revue pasteur-04691612v1
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity Zied Riahi,Sophie Boucher,Samia Abdi,Fabienne Wong Jun Tai,Amrit Singh-Estivaletet al. Proceedings of the National Academy of Sciences of the United States of America, 2025, 122 (50), pp.e2518445122. ⟨10.1073/pnas.2518445122⟩ Article dans une revue pasteur-05406587v2
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health Rahma Mkaouar,Zied Riahi,Jihene Marrakchi,Nessrine Mezzi,Lilia Romdhaneet al. Frontiers in Genetics, 2024, 15, pp.1437233. ⟨10.3389/fgene.2024.1437233⟩ Article dans une revue pasteur-04691609v1
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families Assia Idyahia,Salaheddine Redouan,Ghita Amalou,Hicham Charoute,Houda Harmaket al. Molecular Biology Reports, 2024, 51 (1), pp.850. ⟨10.1007/s11033-024-09740-x⟩ Article dans une revue pasteur-04691611v1
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health Rahma Mkaouar,Zied Riahi,Jihene Marrakchi,Nessrine Mezzi,Lilia Romdhaneet al. Frontiers in Genetics, 2024, 15, pp.1384094. ⟨10.3389/fgene.2024.1384094⟩ Article dans une revue pasteur-04691608v1
Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome Samia Abdi,Mohamed Makrelouf,Issa Nazim Rous,Kheireddine Ounnoughi,Akila Zenatiet al. Gene Reports, 2024, 36, pp.101954. ⟨10.1016/j.genrep.2024.101954⟩ Article dans une revue pasteur-04691606v1
Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control study Tetou Soumbara,Crystel Bonnet,Cheikh Tijani Hamed,Fatimetou Veten,Mohamed Hemeyineet al. BMC Infectious Diseases, 2024, 24 (1), pp.616. ⟨10.1186/s12879-024-09503-w⟩ Article dans une revue pasteur-04691607v1
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families Imane Aitraise,Ghita Amalou,Amina Bakhchane,Amale Bousfiha,Houria Abdelghaffaret al. Biochemical Genetics, 2023, 62, pp.1914-1924. ⟨10.1007/s10528-023-10515-5⟩ Article dans une revue pasteur-04235312v1
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies Philippe Jean,Fabienne Wong Jun Tai,Amrit Singh-Estivalet,Andrea Lelli,Cyril Scandolaet al. Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (26), pp.e2221744120. ⟨10.1073/pnas.2221744120⟩ Article dans une revue pasteur-04309088v1
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness Malak Salame,Crystel Bonnet,Ely Cheikh Mohamed Moctar,Selma Mohamed Brahim,Abdallahi Dedyet al. European Archives of Oto-Rhino-Laryngology, 2023, 280, pp.4057-4063. ⟨10.1007/s00405-023-07907-z⟩ Article dans une revue pasteur-04053511v1
Deafness: from genetic architecture to gene therapy Christine Petit,Crystel Bonnet,Saaïd Safieddine Nature Reviews Genetics, 2023, 24, pp.665-686. ⟨10.1038/s41576-023-00597-7⟩ Article dans une revue pasteur-04097478v1
Novel pathogenic WHRN variant causing hearing loss in a moroccan family Imane Aitraise,Ghita Amalou,Salaheddine Redouane,Hicham Charoute,Khalid Snoussiet al. Molecular Biology Reports, 2023, ⟨10.1007/s11033-023-08901-8⟩ Article dans une revue hal-04281535v1
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco Imane Aitraise,Ghita Amalou,Amale Bousfiha,Hicham Charoute,Hassan Roubaet al. Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩ Article dans une revue pasteur-03985530v1
Retinal Phenotype of Patients with &lt;i&gt;CLRN1&lt;/i&gt;-Associated Usher 3A Syndrome in French Light4Deaf Cohort Vasily M Smirnov,Marco Nassisi,Saddek Mohand-Saïd,Crystel Bonnet,Anne Auboiset al. Investigative Ophthalmology & Visual Science, 2022, 63 (4), pp.25. ⟨10.1167/iovs.63.4.25⟩ Article dans une revue hal-03954493v1
Screening of BRCA1/2 variants in Mauritanian breast cancer patients Selma Mohamed Brahim,Ekht Elbenina Zein,Crystel Bonnet,Cheikh Tijani Hamed,Malak Salameet al. BMC Cancer, 2022, 22 (1), pp.802. ⟨10.1186/s12885-022-09903-8⟩ Article dans une revue pasteur-04072696v1
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family Soukaina Elrharchi,Zied Riahi,Sara Salime,Hicham Charoute,Lamiae Elkhattabiet al. Human Heredity, 2021, 85 (1), pp.35-39. ⟨10.1159/000512712⟩ Article dans une revue pasteur-03219602v1
Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis Léo Varnet,Agnès C Léger,Sophie Boucher,Crystel Bonnet,Christine Petitet al. Frontiers in Aging Neuroscience, 2021, 13, pp.640522. ⟨10.3389/fnagi.2021.640522⟩ Article dans une revue hal-03154679v1
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family Ghita Amalou,Crystel Bonnet,Zied Riahi,Aymane Bouzidi,Soukaina Elrharchiet al. International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩ Article dans une revue pasteur-03215242v1
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy Christina Zeitz,Cécile Méjécase,Christelle Michiels,Christel Condroyer,Juliette Wohlschlegelet al. International Journal of Molecular Sciences, 2021, 22 (15), pp.7875. ⟨10.3390/ijms22157875⟩ Article dans une revue inserm-03841438v1
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush Ana Fakin,Crystel Bonnet,Anne Kurtenbach,Saddek Mohand-Said,Ditta Zoboret al. International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩ Article dans une revue hal-03417248v1
Phylogenetic analysis of Harmonin homology domains Baptiste Colcombet-Cazenave,Karen Druart,Crystel Bonnet,Christine Petit,Olivier Spérandioet al. BMC Bioinformatics, 2021, 22 (1), pp.190. ⟨10.1186/s12859-021-04116-5⟩ Article dans une revue hal-03200406v1
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma. Mouna Hadrami,Crystel Bonnet,Christina Zeitz,Fatimetou Veten,Med Biyaet al. Molecular Vision, 2021, 25, pp.373-381 Article dans une revue pasteur-03219621v1
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment Rahma Mkaouar,Zied Riahi,Cherine Charfeddine,Imen Chelly,Hela Boudabbouset al. PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩ Article dans une revue pasteur-04072687v1
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis Malika Dahmani,Sonia Talbi,Fatima Ammar-Khodja,Sofiane Ouhab,Farid Boudjenahet al. International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩ Article dans une revue pasteur-03219608v1
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis Sophie Boucher,Fabienne Wong Jun Tai,Sedigheh Delmaghani,Andrea Lelli,Amrit Singh-Estivaletet al. Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩ Article dans une revue pasteur-03215054v1
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene Olaia Subirà,Jaume Català-Mora,Jesús Díaz-Cascajosa,Noel Padrón-Pérez,M. Claveriaet al. Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩ Article dans une revue pasteur-03219607v1
PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT Samer Khateb,Saddek Mohand-Saïd,Marco Nassisi,Crystel Bonnet,Anne-Françoise Rouxet al. RETINA. The Journal of Retinal and Vitreous Diseases, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩ Article dans une revue pasteur-03215234v1
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness Amale Bousfiha,Zied Riahi,Lamiae Elkhattabi,Amina Bakhchane,Hicham Charouteet al. Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩ Article dans une revue pasteur-03219615v1
The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions Sonia Talbi,Crystel Bonnet,Farid Boudjenah,Mohammed Tahar Mansouri,Christine Petitet al. International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩ Article dans une revue pasteur-03219629v1
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy Ana Fakin,Maja Šuštar,Jelka Brecelj,Crystel Bonnet,Christine Petitet al. Genes, 2019, 10 (12), pp.956. ⟨10.3390/genes10120956⟩ Article dans une revue hal-02408154v1
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study Katarina Stingl,Anne Kurtenbach,Gesa Hahn,Christoph Kernstock,Stephanie Hippet al. Documenta Ophthalmologica, 2019, 139 (2), pp.151-160. ⟨10.1007/s10633-019-09704-8⟩ Article dans une revue pasteur-03219625v1
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family Mouna Hadrami,Crystel Bonnet,Fatimetou Veten,Christina Zeitz,Christel Condroyeret al. European Journal of Ophthalmology, 2019, 29 (6), pp.621-628. ⟨10.1177/1120672118804757⟩ Article dans une revue hal-01990091v1
A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene Marwa Sayeb,Zied Riahi,Nadia Laroussi,Crystel Bonnet,Lilia Romdhaneet al. International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩ Article dans une revue pasteur-03219630v1
Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G&gt;A Nonsense Mutation Andrej Zupan,Ana Fakin,Saba Battelino,Martina Jarc-Vidmar,Marko Hawlinaet al. Genes, 2019, 10 (12), pp.1015. ⟨10.3390/genes10121015⟩ Article dans une revue hal-02417524v1
Usher Syndrome and Color Vision Anne Kurtenbach,Gesa Hahn,Christoph Kernstock,Stephanie Hipp,Ditta Zoboret al. Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩ Article dans une revue pasteur-03219639v1
Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province Sonia Talbi,Crystel Bonnet,Zied Riahi,Farid Boudjenah,Malika Dahmaniet al. International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩ Article dans une revue pasteur-03219637v1
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5 Justine Lerat,Crystel Bonnet,François Cartault,Natalie Loundon,Marie‐line Jacquemontet al. Clinical Genetics, 2018, 95 (1), pp.177-181. ⟨10.1111/cge.13460⟩ Article dans une revue hal-03233582v1
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome Soukaina Elrharchi,Zied Riahi,Sara Salime,Halima Nahili,Hassan Roubaet al. International Journal of Pediatric Otorhinolaryngology, 2018, 113 (1), pp.46-50. ⟨10.1016/j.ijporl.2018.07.010⟩ Article dans une revue pasteur-04309116v1
A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family Sara Salime,Zied Riahi,Soukaina Elrharchi,Lamiae Elkhattabi,Hicham Charouteet al. Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩ Article dans une revue pasteur-03219641v1
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases Antoine Paul,Anthony Drecourt,Floriane Petit,Delphine Dupin Deguine,Christelle Vasnieret al. American Journal of Human Genetics, 2017, ⟨10.1016/j.ajhg.2017.09.007⟩ Article dans une revue hal-02391701v1
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders Amale Bousfiha,Amina Bakhchane,Hicham Charoute,Zied Riahi,Khalid Snoussiet al. Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩ Article dans une revue pasteur-03219646v1
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A Francesco Testa,Paolo Melillo,Crystel Bonnet,Vincenzo Marcelli,Antonella de Benedictiset al. RETINA. The Journal of Retinal and Vitreous Diseases, 2017, 37 (8), pp.1581-1590. ⟨10.1097/IAE.0000000000001389⟩ Article dans une revue pasteur-03219649v1
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome Samia Abdi,Amel Bahloul,Asma Behlouli,Jean-Pierre Hardelin,Mohamed Makreloufet al. PLoS ONE, 2016, 11 (9), pp.e0161893. ⟨10.1371/journal.pone.0161893⟩ Article dans une revue hal-01388303v1
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Crystel Bonnet,Zied Riahi,Sandra Chantot-Bastaraud,Luce Smagghe,Mélanie Letexieret al. European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩ Article dans une revue pasteur-03215026v1
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness Sedigheh Delmaghani,Asadollah Aghaie,Yosra Bouyacoub,Hala El Hachmi,Crystel Bonnetet al. American Journal of Human Genetics, 2016, 98 (6), pp.1266 - 1270. ⟨10.1016/j.ajhg.2016.04.015⟩ Article dans une revue hal-01329650v1
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis Imen Ben-Rebeh,Mhamed Grati,Crystel Bonnet,Walid Bouassida,Imen Hadjamoret al. Molecular Vision, 2016, 22, pp.827-35 Article dans une revue pasteur-04309124v1
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss Malika Dahmani,Fatima Ammar-Khodja,Crystel Bonnet,Gaëlle M Lefèvre,Jean-Pierre Hardelinet al. Orphanet Journal of Rare Diseases, 2015, 10 (1), pp.96. ⟨10.1186/s13023-015-0316-8⟩ Article dans une revue hal-01188064v1
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing Fatima Ammar-Khodja,Crystel Bonnet,Malika Dahmani,Sofiane Ouhab,Gaelle Lefèvreet al. Molecular Genetics & Genomic Medicine, 2015, 3 (3), pp.189-196. ⟨10.1002/mgg3.131⟩ Article dans une revue pasteur-04309219v1
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients Zied Riahi,Crystel Bonnet,Rim Zainine,Saida Lahbib,Yosra Bouyacoubet al. PLoS ONE, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩ Article dans une revue pasteur-01221041v1
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells Elise Pepermans,Vincent Michel,Richard Goodyear,Crystel Bonnet,Samia Abdiet al. EMBO Molecular Medicine, 2014, 6 (7), pp.984-992. ⟨10.15252/emmm.201403976⟩ Article dans une revue pasteur-01237053v1
Specific aspects of consanguinity: some examples from the tunisian population. Lilia Romdhane,Nizar Ben Halim,Insaf Rejeb,Rym Kefi,Yosra Bouyacoubet al. Human Heredity, 2014, 77 (1-4), pp.167-74. ⟨10.1159/000362167⟩ Article dans une revue pasteur-01061190v1
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. Zied Riahi,Crystel Bonnet,Rim Zainine,Malek Louha,Yosra Bouyacoubet al. PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩ Article dans une revue pasteur-01060192v1
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness Asma Behlouli,Crystel Bonnet,Samia Abdi,Aïcha Bouaita,Andrea Lelliet al. Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.55. ⟨10.1186/1750-1172-9-55⟩ Article dans une revue inserm-00986102v1
A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families. Zied Riahi,Houda Chahed,Habib Jaafoura,Rim Zainine,Olfa Messaoudet al. International Journal of Pediatric Otorhinolaryngology, 2013, 77 (9), pp.1485-8. ⟨10.1016/j.ijporl.2013.06.015⟩ Article dans une revue istex pasteur-00861211v1
Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment Crystel Bonnet,M. Louha,N. Loundon,N. Michalski,E. Verpyet al. Gene, 2013, 527 (2), pp.537-540. ⟨10.1016/j.gene.2013.06.044⟩ Article dans une revue istex pasteur-04309222v1
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. Zied Riahi,Rim Zainine,Yosra Mellouli,Raja Hannachi,Yosra Bouyacoubet al. International Journal of Pediatric Otorhinolaryngology, 2013, 77 (9), pp.1481-4. ⟨10.1016/j.ijporl.2013.06.013⟩ Article dans une revue istex pasteur-00860772v1
Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2 Ana Fakin,Martina Jarc-Vidmar,Damjan Glavač,Crystel Bonnet,Christine Petitet al. Vision Research, 2012, 75 (9), pp.60-70. ⟨10.1016/j.visres.2012.08.017⟩ Article dans une revue pasteur-04309231v1
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Sedigheh Delmaghani,Asadollah Aghaie,Nicolas Michalski,Crystel Bonnet,Dominique Weilet al. Human Molecular Genetics, 2012, 21 (17), pp.3835-44. ⟨10.1093/hmg/dds212⟩ Article dans une revue pasteur-01472843v1
Usher syndrome (sensorineural deafness and retinitis pigmentosa) Crystel Bonnet,Aziz El-Amraoui Current Opinion in Neurology, 2012, 25 (1), pp.42-49. ⟨10.1097/WCO.0b013e32834ef8b2⟩ Article dans une revue pasteur-03926783v1
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis Crystel Bonnet,M'Hamed Grati,Sandrine Marlin,Jacqueline Levilliers,Jean-Pierre Hardelinet al. Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩ Article dans une revue pasteur-00663885v1
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Sandrine Marlin,Delphine Feldmann,Yann Nguyen,Isabelle Rouillon,Natalie Loundonet al. Biochemical and Biophysical Research Communications, 2010, 394 (3), pp.737-742. ⟨10.1016/j.bbrc.2010.03.062⟩ Article dans une revue istex pasteur-04309241v1
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct Laurence Jonard,Magali Niasme-Grare,Crystel Bonnet,Delphine Feldmann,Isabelle Rouillonet al. International Journal of Pediatric Otorhinolaryngology, 2010, 74 (9), pp.1049-1053. ⟨10.1016/j.ijporl.2010.06.002⟩ Article dans une revue istex pasteur-04309238v1
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes Crystel Bonnet,Sébastien Augustin,Sami Ellouze,Paule Bénit,Aicha Bouaitaet al. Biochimica et Biophysica Acta - Molecular Cell Research, 2008, 1783 (10), pp.1707-1717. ⟨10.1016/j.bbamcr.2008.04.018⟩ Article dans une revue hal-04828374v1
Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mtDNA mutations affecting complex I or V subunits Crystel Bonnet,Valérie Kaltimbacher,Sami Ellouze,Sébastien Augustin,Paule Bénitet al. Rejuvenation Research, 2007, 10 (2), pp.127-144. ⟨10.1089/rej.2006.0526⟩ Article dans une revue hal-04838132v1
Localisation des ARNm sur la surface mitochondriale : outil pour le traitement de pathologies rétiniennes dues à des mutations de l'ADN mitochondrial Crystel Bonnet,Valérie Kaltimbacher,Sami Ellouze,Valérie Forster,José-Alain Sahelet al. Journal de la Société de Biologie, 2007, 201 (1), pp.69-74. ⟨10.1051/jbio:2007008⟩ Article dans une revue hal-04828379v1
Differential Binding Regulation of Microtubule-associated Proteins MAP1A, MAP1B, and MAP2 by Tubulin Polyglutamylation Crystel Bonnet,Dominique Boucher,Sylvie Lazereg,Barbara Pedrotti,Khalid Islamet al. Journal of Biological Chemistry, 2001, 276 (16), pp.12839-12848. ⟨10.1074/jbc.M011380200⟩ Article dans une revue hal-04828383v1