Publications by authors named "Isabelle Jeru"

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SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases.
Pauline Bronnec, Sarah Dalmon, Chloe Briand, Omran Allatif, Martin Broly, Isabelle Jeru

J Exp Med· February 2026

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Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy.
Ashwin Bhaskaran, Rabah Ben Yaou, Adam S Helms, Abdallah Fayssoil, Pascale Richard, Isabelle Jeru

JAMA Cardiol· September 2025

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Insulin receptor variants: Extending the traditional Mendelian spectrum.
Delphine Collin-Chavagnac, Cécile Saint-Martin, Lotfi Bedidi, Louis Lebreton, Vahid Aslanzadeh

Genet Med· June 2025

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Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.
Tom Snelling, Leo O Garnotel, Isabelle Jeru, Maud Tusseau, Laurence Cuisset

Open Biol· December 2024

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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.
Giovanni Ceccarini, Baris Akinci, David Araujo-Vilar, Marianna Beghini, Rebecca J Brown, Isabelle Jeru

Ann Endocrinol (Paris)· July 2024

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ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis.
Jérémie Gautheron, Solaf Elsayed, Valeria Pistorio, Sam Lockhart, Jamila Zammouri

Proc Natl Acad Sci U S A· June 2024

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Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Kevin Perge, Emilie Capel, Carine Villanueva, Jérémie Gautheron, Safiatou Diallo

Eur J Endocrinol· February 2024

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Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.
Héléna Mosbah, Camille Vatier, Béatrice Andriss, Inès Belalem, Brigitte Delemer

Eur J Endocrinol· January 2024

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Jérémie Gautheron, Marie-Christine Vantyghem

Nat Genet· November 2023

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Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Ilgin Yildirim Simsir, Beyhan Tuysuz, Mehmet Nuri Ozbek, Seher Tanrikulu, Merve Celik Guler, Isabelle Jeru

Diabetes Obes Metab· July 2023

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RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease.
Marta B Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir

Hepatology· April 2023

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Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.
Guillaume Treiber, Alice Guilleux, Kevin Huynh, Oriane Bonfanti, Ania Flaus-Furmaniuk

Diabetes Metab· March 2023

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Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Camille Gosseaume, Thierry Fournier, Isabelle Jéru, Marie-Léone Vignaud, Isabelle Missotte

Eur J Endocrinol· March 2023

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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022.
Héléna Mosbah, Baris Akinci, David Araújo-Vilar, Juan Carrion Tudela, Giovanni Ceccarini

Ann Endocrinol (Paris)· December 2022

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Editorial: Endocrine and metabolic diseases - genetic impact and therapies.
Isabelle Jéru, Bruno Fève, Ralf Jockers

Front Endocrinol (Lausanne)· November 2022

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The necroptosis-inducing pseudokinase mixed lineage kinase domain-like regulates the adipogenic differentiation of pre-adipocytes.
Julie Magusto, Carine Beaupère, Marta B Afonso, Martine Auclair, Jean-Louis Delaunay

iScience· October 2022

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Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.
Héléna Mosbah, Marie-Christine Vantyghem, Estelle Nobécourt, Fabrizio Andreelli, Francoise Archambeaud

Diabetes Obes Metab· August 2022

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Rotor Syndrome Presenting as Dubin-Johnson Syndrome.
Mariana Morais, Philippe Couvert, Isabelle Jéru, Mariana Verdelho Machado

Case Rep Gastroenterol· August 2022

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Molecular and Cellular Bases of Lipodystrophy Syndromes.
Jamila Zammouri, Camille Vatier, Emilie Capel, Martine Auclair, Caroline Storey-London

Front Endocrinol (Lausanne)· March 2022

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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair

BMC Med· March 2022

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Reply to Morje et al.
Camille Vatier, Alain Carrié, Marie-Christine Renaud, Noémie Simon-Tillaux, Alexandre Hertig

Adv Physiol Educ· December 2021

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Genetics of lipodystrophy syndromes.
Isabelle Jéru

Presse Med· November 2021

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Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Asuman Nur Karhan, Jamila Zammouri, Martine Auclair, Emilie Capel, Feramuz Demir Apaydin

Eur J Endocrinol· November 2021

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Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.
Isabelle Jéru, Amira Nabil, Gehad El-Makkawy, Olivier Lascols, Corinne Vigouroux

Genes (Basel)· September 2021

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mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
Jeremie Gautheron, Christophe Morisseau, Wendy K Chung, Jamila Zammouri, Martine Auclair, Isabelle Jeru

Elife· August 2021

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