Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Patrice Bourgeois"'
Autor:
Alice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, Nathalie Bonello-Palot, Patrice Bourgeois, Nicolas Levy, Emmanuèle Helfer, Noémie Dubois, René Valero, Catherine Badens, Sophie Beliard
Publikováno v:
Cells, Vol 11, Iss 1, p 50 (2021)
Many proteins are causative for inherited partial lipodystrophies, including lamins, the essential constituents of the nuclear envelope scaffold called the lamina. By performing high throughput sequencing on a panel of genes involved in lipodystrophi
Externí odkaz:
https://doaj.org/article/672b201c4aeb42159b616e0dc7d6ae3b
Autor:
Marine Paci, Razan Elkhatib, Guy Longepied, Patrice Bourgeois, Pierre F. Ray, Nicolas Levy, Michael J. Mitchell, Catherine Metzler-Guillemain
Publikováno v:
Basic and Clinical Andrology, Vol 28, Iss 1, Pp 1-7 (2018)
Résumé La lamina nucléaire (LN) est un réseau de filaments protéiques, composé essentiellement de lamines, situé entre la membrane nucléaire interne et la chromatine. La LN est un composant de l’enveloppe nucléaire, interagit avec une larg
Externí odkaz:
https://doaj.org/article/d71235111b8a40a9aadb229aa5276291
Autor:
Camille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, Damien Galant, Françoise Merono, Nathalie Bonello-Palot, Patrice Bourgeois, Adèle Lasbleiz, Cathy Petitjean, Patricia Ancel, Nicolas Levy, Catherine Badens, Bénédicte Gaborit
Publikováno v:
Cells, Vol 9, Iss 2, p 310 (2020)
This study details the clinical and cellular phenotypes associated with two missense heterozygous mutations in LMNA, c.1745G>T p.(Arg582Leu), and c.1892G>A p.(Gly631Asp), in two patients with early onset of diabetes mellitus, hypertriglyceridemia and
Externí odkaz:
https://doaj.org/article/b80c42a72b334a378e9c101f1dcf8c37
Autor:
Frédéric Vély, Vincent Barlogis, Evelyne Marinier, Marie-Edith Coste, Béatrice Dubern, Emmanuelle Dugelay, Julie Lemale, Christine Martinez-Vinson, Noël Peretti, Ariane Perry, Patrice Bourgeois, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Catherine Farnarier, Alexandre Fabre
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation. The main fea
Externí odkaz:
https://doaj.org/article/4b0348c0cc8f40c79f85702eb1cd6563
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
Autor:
Alice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, Nathalie Bonello-Palot, Patrice Bourgeois, Nicolas Levy, Emmanuèle Helfer, Noémie Dubois, René Valero, Catherine Badens, Sophie Beliard
Publikováno v:
Cells
Cells, 2022, 11 (1), pp.50. ⟨10.3390/cells11010050⟩
Cells; Volume 11; Issue 1; Pages: 50
Cells, Vol 11, Iss 50, p 50 (2022)
Cells, 2022, 11 (1), pp.50. ⟨10.3390/cells11010050⟩
Cells; Volume 11; Issue 1; Pages: 50
Cells, Vol 11, Iss 50, p 50 (2022)
International audience; Many proteins are causative for inherited partial lipodystrophies, including lamins, the essential constituents of the nuclear envelope scaffold called the lamina. By performing high throughput sequencing on a panel of genes i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::691770a913b26465b9f6d63f8850a57a
https://amu.hal.science/hal-03586657/file/Cells2021_Varlet&al.pdf
https://amu.hal.science/hal-03586657/file/Cells2021_Varlet&al.pdf
Autor:
Christophe Buffat, Marie-Edith Coste, Patrice Bourgeois, Morgane Caralli, Alexandre Fabre, Céline Roman, Bertrand Roquelaure, Catherine Badens
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Journal of Pediatric Gastroenterology and Nutrition, 2021, 72 (6), pp.826-832. ⟨10.1097/MPG.0000000000003049⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, 72 (6), pp.826-832. ⟨10.1097/MPG.0000000000003049⟩
Journal of Pediatric Gastroenterology and Nutrition, 2021, 72 (6), pp.826-832. ⟨10.1097/MPG.0000000000003049⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, 72 (6), pp.826-832. ⟨10.1097/MPG.0000000000003049⟩
International audience; Objectives: Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare diseases: the tufting enteropathies (TE; EPCAM and SPINT2 mutations), microvillous inclusion disease (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ce1d482a832e10e09aa8e57025b210
https://amu.hal.science/hal-03660860
https://amu.hal.science/hal-03660860
Autor:
Noël Peretti, Pierre-Marie Lavrut, Raphael Maudinas, Pauline Bonniaud-Blot, Marie Bournez, Alexandre Fabre, Patrice Bourgeois, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Mathias Faure, Alain Lachaux, Rémi Duclaux-Loras
Publikováno v:
Clinics and Research in Hepatology and Gastroenterology
Clinics and Research in Hepatology and Gastroenterology, Elsevier, 2021, 45 (6), pp.101640. ⟨10.1016/j.clinre.2021.101640⟩
Clinics and Research in Hepatology and Gastroenterology, 2021, 45 (6), pp.101640. ⟨10.1016/j.clinre.2021.101640⟩
Clinics and Research in Hepatology and Gastroenterology, Elsevier, 2021, 45 (6), pp.101640. ⟨10.1016/j.clinre.2021.101640⟩
Clinics and Research in Hepatology and Gastroenterology, 2021, 45 (6), pp.101640. ⟨10.1016/j.clinre.2021.101640⟩
International audience; Proprotein convertase 1 (PCSK1, PC1/3) deficiency is an uncommon cause of neonatal malabsorptive diarrhoea associated with endocrinopathies that are due to the disrupted processing of a large number of prohormones, including p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3d19118e9f0e0fe9a4709d8813481f2
https://www.hal.inserm.fr/inserm-03337429/document
https://www.hal.inserm.fr/inserm-03337429/document
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⟩
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
https://hal.inrae.fr/hal-02624173/document
Autor:
Camille, Desgrouas, Alice-Anaïs, Varlet, Anne, Dutour, Damien, Galant, Françoise, Merono, Nathalie, Bonello-Palot, Patrice, Bourgeois, Adèle, Lasbleiz, Cathy, Petitjean, Patricia, Ancel, Nicolas, Levy, Catherine, Badens, Bénédicte, Gaborit
Publikováno v:
Cells
This study details the clinical and cellular phenotypes associated with two missense heterozygous mutations in LMNA, c.1745G>T p.(Arg582Leu), and c.1892G>A p.(Gly631Asp), in two patients with early onset of diabetes mellitus, hypertriglyceridemia and