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Page 1
Epithelial barrier dysfunction in desmoglein-1 deficiency.
Polivka L, Hadj-Rabia S, Bal E, Leclerc-Mercier S, Madrange M, Hamel Y, Bonnet D, Mallet S, Lepidi H, Ovaert C, Barbet P, Dupont C, Neven B, Munnich A, Godsel LM, Campeotto F, Weil R, Laplantine E, Marchetto S, Borg JP, Weis WI, Casanova JL, Puel A, Green KJ, Bodemer C, Smahi A. Polivka L, et al. Among authors: hamel y. J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27. J Allergy Clin Immunol. 2018. PMID: 29705242 Free PMC article. No abstract available.
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
Tauber M, Bal E, Pei XY, Madrange M, Khelil A, Sahel H, Zenati A, Makrelouf M, Boubridaa K, Chiali A, Smahi N, Otsmane F, Bouajar B, Marrakchi S, Turki H, Bourrat E, Viguier M, Hamel Y, Bachelez H, Smahi A. Tauber M, et al. Among authors: hamel y. J Invest Dermatol. 2016 Sep;136(9):1811-1819. doi: 10.1016/j.jid.2016.04.038. Epub 2016 May 21. J Invest Dermatol. 2016. PMID: 27220475 Free article. Review.
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pescatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont JP, Ursini VM, Vabres P, Munnich A, Casanova JL, Bodemer C, Weil R, Agou F, Smahi A. Bal E, et al. Among authors: hamel y. J Allergy Clin Immunol. 2017 Dec;140(6):1671-1682.e2. doi: 10.1016/j.jaci.2016.11.056. Epub 2017 Feb 27. J Allergy Clin Immunol. 2017. PMID: 28249776
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.
Legendre A, Khraiche D, Ou P, Mauvais FX, Madrange M, Guemann AS, Jais JP, Bonnet D, Hamel Y, de Lonlay P. Legendre A, et al. Among authors: hamel y. Mol Genet Metab. 2018 Mar;123(3):375-381. doi: 10.1016/j.ymgme.2017.12.429. Epub 2018 Jan 5. Mol Genet Metab. 2018. PMID: 29325813
Identification of EPX Variants in Human Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss).
David C, Hamel Y, Smahi A, Diot E, Benhamou Y, Girszyn N, Le Gallou T, Lifermann F, Godmer P, Maurier F, Cottin V, Grados A, Aumaitre O, Néel A, Pugnet G, Masson C, Puéchal X, Mouthon L, Guillevin L, Bienvenu T, Terrier B; French Vasculitis Study Group. David C, et al. Among authors: hamel y. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1960-1963.e3. doi: 10.1016/j.jaip.2023.02.019. Epub 2023 Mar 1. J Allergy Clin Immunol Pract. 2023. PMID: 36868475 No abstract available.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P. Mamoune A, et al. Among authors: hamel y. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Habarou F, et al. Among authors: hamel y. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757203 Free PMC article.
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Hamel Y, Mauvais FX, Madrange M, Renard P, Lebreton C, Nemazanyy I, Pellé O, Goudin N, Tang X, Rodero MP, Tuchmann-Durand C, Nusbaum P, Brindley DN, van Endert P, de Lonlay P. Hamel Y, et al. Cell Rep Med. 2021 Aug 17;2(8):100370. doi: 10.1016/j.xcrm.2021.100370. eCollection 2021 Aug 17. Cell Rep Med. 2021. PMID: 34467247 Free PMC article.
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chrétien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P. Soreze Y, et al. Among authors: hamel y. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192. Orphanet J Rare Dis. 2013. PMID: 24341803 Free PMC article.
27 results