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Page 1
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charrière S, Farnier M, Yelnick C, Carreau V, Ferrières J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lütjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabès JP, Boileau C, Abifadel M, Varret M. Ghaleb Y, et al. Among authors: philippi a. Metabolites. 2022 Mar 18;12(3):262. doi: 10.3390/metabo12030262. Metabolites. 2022. PMID: 35323704 Free PMC article.
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M. Abou Khalil Y, et al. Among authors: philippi a. Int J Mol Sci. 2022 May 21;23(10):5792. doi: 10.3390/ijms23105792. Int J Mol Sci. 2022. PMID: 35628605 Free PMC article.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Zanoni P, Panteloglou G, Othman A, Haas JT, Meier R, Rimbert A, Futema M, Abou Khalil Y, Norrelykke SF, Rzepiela AJ, Stoma S, Stebler M, van Dijk F, Wijers M, Wolters JC, Dalila N, Huijkman NCA, Smit M, Gallo A, Carreau V, Philippi A, Rabès JP, Boileau C, Visentin M, Vonghia L, Weyler J, Francque S, Verrijken A, Verhaegen A, Van Gaal L, van der Graaf A, van Rosmalen BV, Robert J, Velagapudi S, Yalcinkaya M, Keel M, Radosavljevic S, Geier A, Tybjaerg-Hansen A, Varret M, Rohrer L, Humphries SE, Staels B, van de Sluis B, Kuivenhoven JA, von Eckardstein A. Zanoni P, et al. Among authors: philippi a. Circ Res. 2022 Jan 7;130(1):80-95. doi: 10.1161/CIRCRESAHA.120.318141. Epub 2021 Nov 23. Circ Res. 2022. PMID: 34809444 Free article.
Mutations and variants of ONECUT1 in diabetes.
Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A. Philippi A, et al. Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18. Nat Med. 2021. PMID: 34663987 Free PMC article.
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Lytrivi M, Senée V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marín-Cañas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladrière L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, Julier C, Cnop M. Lytrivi M, et al. Among authors: philippi a. Eur J Endocrinol. 2021 Mar;184(3):455-468. doi: 10.1530/EJE-20-0636. Eur J Endocrinol. 2021. PMID: 33486469
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C. Dos Santos RS, et al. Among authors: philippi a. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10. Diabetes. 2017. PMID: 28073829
81 results