Publications by authors named "Cathy Obringer"

14Publications

Growth charts in Cockayne syndrome type 1 and type 2.

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.

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.

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

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

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.

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.

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

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

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

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

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.

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

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

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