Foxg1-Cre Mediated Lrp2 Inactivation in the Developing Mouse Neural Retina, Ciliary and Retinal Pigment Epithelia Models Congenital High Myopia.

Autor: Olivier Cases, Antoine Joseph, Antoine Obry, Mathieu D Santin, Sirine Ben-Yacoub, Michel Pâques, Sabine Amsellem-Levera, Ana Bribian, Manuel Simonutti, Sébastien Augustin, Thomas Debeir, José Alain Sahel, Annabel Christ, Fernando de Castro, Stéphane Lehéricy, Pascal Cosette, Renata Kozyraki

Publikováno v: PLoS ONE, Vol 10, Iss 6, p e0129518 (2015)

Myopia is a common ocular disorder generally due to increased axial length of the eye-globe. Its extreme form high myopia (HM) is a multifactorial disease leading to retinal and scleral damage, visual impairment or loss and is an important health iss

Externí odkaz: https://doaj.org/article/7cb50aef3a594c39b4e88744e38346f4

Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome

Autor: Iben Møller Jønsson, Sophie Lebon, Erik Ilsø Christensen, Heidi Koldsø, Mette Madsen, Jens Michael Hertz, Rikke Nielsen, Francesco Emma, Sabine Amsellem, Jean-François Benoist, Sandrine Passemard, Pierre J. Verroust, Olivier Cases, Christina Zeitz, Renata Kozyraki, Tina Storm

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2013, 14 (1), pp.111. ⟨10.1186/1471-2350-14-111⟩
BMC Medical Genetics; Vol 14
BMC Medical Genetics, 2013, 14 (1), pp.111. ⟨10.1186/1471-2350-14-111⟩
Storm, T, Zeitz, C, Cases, O, Amsellem, S, Verroust, P J, Madsen, M, Benoist, J-F, Passemard, S, Lebon, S, Jønsson, I M, Emma, F, Koldsø, H, Hertz, J M, Nielsen, R, Christensen, E I & Kozyraki, R 2013, ' Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome ', B M C Medical Genetics, vol. 14, no. 1, pp. 111 . https://doi.org/10.1186/1471-2350-14-111
Storm, T, Zeitz, C, Cases, O, Amsellem, S, Verroust, P J, Madsen, M Ø, Benoist, J-F, Passemard, S, Lebon, S, Jønsson, I M, Emma, F, Koldsø, H, Hertz, J M, Nielsen, R, Christensen, E & Kozyraki, R 2013, ' Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome ', B M C Medical Genetics, vol. 14, no. 1, 111, pp. 1 . https://doi.org/10.1186/1471-2350-14-111

Background Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12 receptor complex, cubam.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58683b8bd117d2e1375044ba879615f1
https://www.hal.inserm.fr/inserm-00904107/document

Cubilin is essential for albumin reabsorption in the renal proximal tubule

Autor: Pierre J. Verroust, Ghislaine Hamard, Rikke Nielsen, Erik Ilsø Christensen, Jakub Gburek, Renata Kozyraki, Olivier Devuyst, Sabine Amsellem, Ebba Nexo, Thomas E. Willnow

Publikováno v: Journal of the American Society of Nephrology; Vol 21
Journal of the American Society of Nephrology, Vol. 21, no.11, p. 1859-1867 (2010)
Journal of the American Society of Nephrology
Amsellem, S, Gburek, J, Hamard, G, Nielsen, R, Willnow, T E, Devuyst, O, Nexø, E, Verroust, P J, Christensen, E I & Kozyraki, R 2010, ' Cubilin Is Essential for Albumin Reabsorption in the Renal Proximal Tubule ', Journal of the American Society of Nephrology, vol. 21, pp. 1859-1867 . https://doi.org/10.1681/ASN.2010050492

Udgivelsesdato: 2010-Aug-26 Receptor-mediated endocytosis is responsible for protein reabsorption in the proximal tubule. This process involves two interacting receptors, megalin and cubilin, which form a complex with amnionless. Whether these protei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce677c7b984efdcfddc50b76f054dd29
https://pubmed.ncbi.nlm.nih.gov/20947627

An alcoholic binge causes massive degradation of hepatic mitochondrial DNA in mice

Autor: Dominique Pessayre, Abdellah Mansouri, Delphine Haouzi, Caroline de Kerguenec, Alain Moreau, Sabine Amsellem, Alain Berson, Bernard Fromenty, Isabelle Gaou, Philippe Lettéron, Gérard Feldmann

Publikováno v: Gastroenterology. 117(1)

Background & Aims: Ethanol causes oxidative stress in the hepatic mitochondria of experimental animals and mitochondrial DNA deletions in alcoholics. We postulated that ethanol intoxication may cause mitochondrial DNA strand breaks. Methods: Effects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033bcdc605e9a5d66a925b48555756bd
https://pubmed.ncbi.nlm.nih.gov/10381938

Novel mutations of thePCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Autor: Alexandre Fredenrich, Yves Reznik, Mathilde Varret, Gérald Luc, Delphine Allard, Pascale Benlian, Michel Krempf, Sabine Amsellem, Claudine Junien, Jean-Pierre Rabès, Jean-Philippe Girardet, Mélanie Trillard, Catherine Boileau, Marianne Abifadel, Martine Devillers

Publikováno v: Human Mutation. 26:497-497

Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (enc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5916fd53484d200d994abe70196c00
https://doi.org/10.1002/humu.9383