A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Autor: Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine Badens

Publikováno v: Cells, Vol 5, Iss 2, p 21 (2016)

ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a

Externí odkaz: https://doaj.org/article/ea2a8ad1ac2940b999d56a10f3bd6006

High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome

Autor: Manal Ibrahim-Kosta, Pierre-Emmanuel Morange, Marc Laine, Marie-Christine Alessi, Thomas Cuisset, Nathalie Bonello-Palot, Thibault Ronchard, Arnaud Blanchard, Catherine Badens, Mathieu Cerino, Françoise Merono, Laurent Bonello, Anderson Loundou, Patrice Bourgeois, Nicolas Lévy, Camille Desgrouas

Publikováno v: Atherosclerosis
Atherosclerosis, Elsevier, 2020, 293, pp.86-91. ⟨10.1016/j.atherosclerosis.2019.12.002⟩
Atherosclerosis, 2020, 293, pp.86-91. ⟨10.1016/j.atherosclerosis.2019.12.002⟩

International audience; Background and aims: Genetic partial lipodystrophies are rare heterogeneous disorders characterized by abnormalities of fat distribution and associated metabolic complications including a predisposition for atherosclerotic car

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84261ac159a3d6f7316d3efd4b5a88b8
https://hal.inrae.fr/hal-02624173/document

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Autor: Badens, Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine

Publikováno v: Cells; Volume 5; Issue 2; Pages: 21

ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::63540a85e0a8857a67e2bdbe181f5330

Neonatal screening for sickle cell disease in France: evaluation of the selective process

Autor: Eliane Suzineau, J. Bardakdjian, Nicolas Lévy, Isabelle Thuret, Danielle Lena-Russo, Catherine Badens, Jacques Collomb, Françoise Merono, Jacques Sarles

Publikováno v: Journal of Clinical Pathology. 63:548-551

Aims The French national programme for neonatal screening of sickle cell disease is applied to newborns ‘at risk’, defined as those born to parents originating from sub-Saharan Africa, the Mediterranean area, the Arabic peninsula, the French over

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef38a6ca933014688cfebb9d35ca20f
https://doi.org/10.1136/jcp.2009.068874

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode

Autor: Nathalie Bonello-Palot, Imane Agouti, Chantal Paolasso, Françoise Merono, Catherine Badens, Nicolas Lévy

Publikováno v: Clinical Biochemistry. 44:441-443

Objectives The analytical performances of a new kit conceived for Hb variants separation and measurement procedures on an HPLC instrument (Tosoh HLC-723 G8) were studied. Results Between-run and within-run precision tests were satisfactory for both H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d49e14ccd4e5fc49f0e783d1b5ef0d6
https://doi.org/10.1016/j.clinbiochem.2010.12.007