Publications by authors named "Cathy Obringer"

14Publications

Growth charts in Cockayne syndrome type 1 and type 2.

Authors:
Sarah Baer Nicolas Tuzin Peter B Kang Shehla Mohammed Masaya Kubota Yvette van Ierland Tiffany Busa Massimiliano Rossi Godelieve Morel Caroline Michot Geneviève Baujat Myriam Durand Cathy Obringer Nicolas Le May Nadège Calmels Vincent Laugel

Eur J Med Genet 2020 Nov 20:104105. Epub 2020 Nov 20.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, France.

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November 2020

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance.

Authors:
Tarekegn Geberhiwot Shanat Baig Cathy Obringer Dorothée Girard Charlotte Dawson Konstantinos Manolopoulos Nadia Messaddeq Pierre Bel Lassen Karine Clement Jeremy W Tomlinson Richard P Steeds Hélène Dollfus Nikolai Petrovsky Vincent Marion

Diabetes 2020 09 29. Epub 2020 Sep 29.

INSERM, UMR_U1112, Ciliopathies modeling and associated therapies group, Laboratoire de Génétique Médicale, Fédération de Medecine Translationelle de Strasbourg, 11 rue Humann, Bâtiment 3, 67085 Strasbourg, France.

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September 2020

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Authors:
Sarah Baer Cathy Obringer Sophie Julia Jameleddine Chelly Yline Capri Domitille Gras Geneviève Baujat Têmis Maria Felix Berenice Doray Jaime Sanchez Del Pozo Lina M Ramos Lydie Burglen Vincent Laugel Nadège Calmels

Clin Genet 2020 Sep 28;98(3):251-260. Epub 2020 Jul 28.

Laboratoires de Diagnostic Génétique, Institut de génétique médicale d'Alsace, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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September 2020

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Authors:
Pauline Le Van Quyen Nadège Calmels Maryse Bonnière Suzanne Chartier Féréchté Razavi Jamel Chelly Salima El Chehadeh Sarah Baer Lucile Boutaud Séverine Bacrot Cathy Obringer Romain Favre Tania Attié-Bitach Vincent Laugel Maria C Antal

Am J Med Genet A 2020 05 13;182(5):1236-1242. Epub 2020 Feb 13.

Unité de Fœtopathologie, Service de Pathologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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May 2020

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Authors:
Alexey Epanchintsev Marc-Alexander Rauschendorf Federico Costanzo Nadege Calmels Cathy Obringer Alain Sarasin Frederic Coin Vincent Laugel Jean-Marc Egly

Sci Rep 2020 01 24;10(1):1105. Epub 2020 Jan 24.

IGBMC, Department of Functional Genomics and Cancer, Equipe Labellisée Ligue 2014, CNRS/INSERM/University of Strasbourg, BP 163, 67404 Illkirch Cedex, C.U., Strasbourg, France.

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January 2020

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.

Authors:
Agnès Brun Xiangxiang Yu Cathy Obringer Daniel Ajoy Elodie Haser Corinne Stoetzel Michel J Roux Nadia Messaddeq Hélène Dollfus Vincent Marion

Exp Eye Res 2019 09 11;186:107721. Epub 2019 Jul 11.

INSERM, Laboratoire de Génétique Médicale, UMR_U1112, Ciliopathies Modeling and Associated Therapies Team (CMAT), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Institut de Génétique Médicale D'Alsace (IGMA), Université de Strasbourg, 11 Rues Humann, Bâtiment 3, 67085, Strasbourg, France. Electronic address:

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September 2019

Renal disease in Cockayne syndrome.

Authors:
Amélie Stern-Delfils Marie-Aude Spitz Myriam Durand Cathy Obringer Nadège Calmels Jérôme Olagne Komala Pillay Karen Fieggen Vincent Laugel Ariane Zaloszyc

Eur J Med Genet 2020 Jan 7;63(1):103612. Epub 2019 Jan 7.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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January 2020

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Authors:
Nadege Calmels Elena Botta Nan Jia Heather Fawcett Tiziana Nardo Yuka Nakazawa Manuela Lanzafame Shinichi Moriwaki Katsuo Sugita Masaya Kubota Cathy Obringer Marie-Aude Spitz Miria Stefanini Vincent Laugel Donata Orioli Tomoo Ogi Alan Robert Lehmann

J Med Genet 2018 05 23;55(5):329-343. Epub 2018 Mar 23.

Genome Damage and Stability Centre, University of Sussex, Brighton, UK.

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May 2018

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Authors:
Audrey Schalk Géraldine Greff Nathalie Drouot Cathy Obringer Hélène Dollfus Vincent Laugel Jamel Chelly Nadège Calmels

Eur J Hum Genet 2018 04 8;26(4):527-536. Epub 2018 Feb 8.

Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, 1 place de l'hôpital, Strasbourg, 67091, France.

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April 2018

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Authors:
Nadège Calmels Géraldine Greff Cathy Obringer Nadine Kempf Claire Gasnier Julien Tarabeux Marguerite Miguet Geneviève Baujat Didier Bessis Patricia Bretones Anne Cavau Béatrice Digeon Martine Doco-Fenzy Bérénice Doray François Feillet Jesus Gardeazabal Blanca Gener Sophie Julia Isabel Llano-Rivas Artur Mazur Caroline Michot Florence Renaldo-Robin Massimiliano Rossi Pascal Sabouraud Boris Keren Christel Depienne Jean Muller Jean-Louis Mandel Vincent Laugel

Orphanet J Rare Dis 2016 Mar 22;11:26. Epub 2016 Mar 22.

Laboratoire de Génétique Médicale - INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de médecine de Strasbourg, 11 rue Humann, Strasbourg, France.

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March 2016

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice.

Authors:
Noëlle Cognard Maria J Scerbo Cathy Obringer Xiangxiang Yu Fanny Costa Elodie Haser Dane Le Corinne Stoetzel Michel J Roux Bruno Moulin Hélène Dollfus Vincent Marion

Cilia 2015 13;4:10. Epub 2015 Aug 13.

Ciliopathies Modeling and Associated Therapies Team, Laboratory of Medical Genetics, National Institute for Health and Medical Research (INSERM), U1112, Université of Strasbourg, 11 rue Humann, 67085 Strasbourg, France.

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August 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Authors:
Sophie Scheidecker Christelle Etard Laurence Haren Corinne Stoetzel Sarah Hull Gavin Arno Vincent Plagnol Séverine Drunat Sandrine Passemard Annick Toutain Cathy Obringer Mériam Koob Véronique Geoffroy Vincent Marion Uwe Strähle Pia Ostergaard Alain Verloes Andreas Merdes Anthony T Moore Hélène Dollfus

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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April 2015

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

Authors:
Vincent Marion Anaïs Mockel Charlie De Melo Cathy Obringer Aurélie Claussmann Alban Simon Nadia Messaddeq Myriam Durand Luc Dupuis Jean-Philippe Loeffler Peter King Catherine Mutter-Schmidt Nikolai Petrovsky Corinne Stoetzel Hélène Dollfus

Cell Metab 2012 Sep;16(3):363-77

Laboratoire de Physiopathologie des Syndromes Rares Héréditaires, AVENIR-Inserm, EA3949, Université de Strasbourg, 11 rue Humann, 67085 Strasbourg, France.

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September 2012

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.

Authors:
Anais Mockel Cathy Obringer Theodorus B M Hakvoort Mathias Seeliger Wouter H Lamers Corinne Stoetzel Hélène Dollfus Vincent Marion

J Biol Chem 2012 Oct 6;287(44):37483-94. Epub 2012 Aug 6.

Laboratoire de Physiopathologie des Syndromes Rares Héréditaires, AVENIR-INSERM, EA3949, Université de Strasbourg, 67085 Strasbourg, France.

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October 2012