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Items: 49

1.

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

Harhouri K, Navarro C, Depetris D, Mattei MG, Nissan X, Cau P, De Sandre-Giovannoli A, Lévy N.

EMBO Mol Med. 2017 Sep;9(9):1294-1313. doi: 10.15252/emmm.201607315.

2.

Splicing-directed therapy in a new mouse model of human accelerated aging.

Osorio FG, Navarro CL, Cadiñanos J, López-Mejía IC, Quirós PM, Bartoli C, Rivera J, Tazi J, Guzmán G, Varela I, Depetris D, de Carlos F, Cobo J, Andrés V, De Sandre-Giovannoli A, Freije JM, Lévy N, López-Otín C.

Sci Transl Med. 2011 Oct 26;3(106):106ra107. doi: 10.1126/scitranslmed.3002847.

3.

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N.

Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951.

4.

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.

Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N.

Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23.

PMID:
19854055
5.

In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin.

Metzler-Guillemain C, Depetris D, Luciani JJ, Mignon-Ravix C, Mitchell MJ, Mattei MG.

Chromosome Res. 2008;16(5):761-82. doi: 10.1007/s10577-008-1225-7. Epub 2008 Jul 4.

PMID:
18592385
6.

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.

Eur J Hum Genet. 2007 Apr;15(4):432-40. Epub 2007 Jan 31.

7.

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

Luciani JJ, Depetris D, Usson Y, Metzler-Guillemain C, Mignon-Ravix C, Mitchell MJ, Megarbane A, Sarda P, Sirma H, Moncla A, Feunteun J, Mattei MG.

J Cell Sci. 2006 Jun 15;119(Pt 12):2518-31. Epub 2006 May 30.

8.

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.

Delague V, Souaid M, Chouery E, Depetris D, Sanlaville D, Mattei MG, Mégarbané A.

Eur J Med Genet. 2006 Mar-Apr;49(2):117-26. Epub 2005 Jun 23.

PMID:
16530708
9.

SRPX2 mutations in disorders of language cortex and cognition.

Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depétris D, Mattéi MG, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P.

Hum Mol Genet. 2006 Apr 1;15(7):1195-207. Epub 2006 Feb 23.

PMID:
16497722
10.

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N.

J Med Genet. 2005 Mar;42(3):253-9. No abstract available.

11.

Assignment of the tumor protein p53 induced nuclear protein 2 (TP53INP2) gene to human chromosome band 20q11.2 by in situ hybridization.

Nowak J, Depetris D, Iovanna JL, Mattei MG, Pébusque MJ.

Cytogenet Genome Res. 2005;108(4):362. No abstract available.

PMID:
15628030
12.

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE.

Eur J Hum Genet. 2005 Feb;13(2):176-83.

13.

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Megarbane A, Moncla A, Mattei MG.

Eur J Hum Genet. 2005 Jan;13(1):41-51.

14.

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.

Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L.

J Med Genet. 2004 Oct;41(10):736-42.

15.

TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution.

Delbridge ML, Longepied G, Depetris D, Mattei MG, Disteche CM, Marshall Graves JA, Mitchell MJ.

Chromosome Res. 2004;12(4):345-56.

PMID:
15241014
16.

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG.

J Med Genet. 2003 Sep;40(9):690-6. No abstract available.

17.

HP1beta and HP1gamma, but not HP1alpha, decorate the entire XY body during human male meiosis.

Metzler-Guillemain C, Luciani J, Depetris D, Guichaoua MR, Mattei MG.

Chromosome Res. 2003;11(1):73-81.

PMID:
12675308
18.

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoï MF, Moirot H, Mattei MG.

Am J Med Genet A. 2003 Apr 30;118A(3):229-34.

PMID:
12673652
19.

A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.

Mignon-Ravix C, Depetris D, Delobel B, Croquette MF, Mattei MG.

Eur J Hum Genet. 2002 Feb;10(2):107-12.

20.

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.

Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L.

J Med Genet. 2002 Feb;39(2):113-7.

21.

Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain.

Nal B, Mohr E, Silva MI, Tagett R, Navarro C, Carroll P, Depetris D, Verthuy C, Jordan BR, Ferrier P.

Genomics. 2002 Jan;79(1):77-86.

PMID:
11827460
22.

Maternally inherited duplication of the possible imprinted 14q31 region.

Mignon-Ravix C, Mugneret F, Stavropoulou C, Depetris D, Khau Van Kien P, Mattei MG.

J Med Genet. 2001 May;38(5):343-7. No abstract available.

23.

Organization of the X and Y chromosomes in human, chimpanzee and mouse pachytene nuclei using molecular cytogenetics and three-dimensional confocal analyses.

Metzler-Guillemain C, Usson Y, Mignon C, Depetris D, Dubreuil G, Guichaoua MR, Mattei MG.

Chromosome Res. 2000;8(7):571-84.

PMID:
11117353
24.

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L.

J Med Genet. 2000 Oct;37(10):746-51.

25.

Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial complex I: genomic organization and expression.

Procaccio V, Lescuyer P, Bourges I, Beugnot R, Duborjal H, Depetris D, Mousson B, Montfort MF, Smeets H, De Coo R, Issartel JP.

Mamm Genome. 2000 Sep;11(9):808-10. No abstract available.

PMID:
10967146
27.

Definition of a T-cell receptor beta gene core enhancer of V(D)J recombination by transgenic mapping.

Tripathi RK, Mathieu N, Spicuglia S, Payet D, Verthuy C, Bouvier G, Depetris D, Mattei MG, HempeL WM, Ferrier P.

Mol Cell Biol. 2000 Jan;20(1):42-53.

28.

Bivalent 15 regularly associates with the sex vesicle in normal male meiosis.

Metzler-Guillemain C, Mignon C, Depetris D, Guichaoua MR, Mattei MG.

Chromosome Res. 1999;7(5):369-78.

PMID:
10515212
29.
30.

cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia.

Isnard P, Depetris D, Mattei MG, Ferrier P, Djabali M.

Mamm Genome. 1998 Dec;9(12):1065-8. No abstract available.

PMID:
9880680
31.

Fertile homozygous transgenic mice expressing a functional truncated herpes simplex thymidine kinase delta TK gene.

Cohen JL, Boyer O, Salomon B, Onclerco R, Depetris D, Lejeune L, Dubus-Bonnet V, Bruel S, Charlotte F, Mattéï MG, Klatzmann D.

Transgenic Res. 1998 Sep;7(5):321-30.

PMID:
9859221
32.

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG.

J Med Genet. 1998 Nov;35(11):932-8.

33.

Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria.

Procaccio V, de Sury R, Martinez P, Depetris D, Rabilloud T, Soularue P, Lunardi J, Issartel J.

Mamm Genome. 1998 Jun;9(6):482-4. No abstract available.

PMID:
9585441
34.

Position-dependent variegation of a CD4 minigene with targeted expression to mature CD4+ T cells.

Boyer O, Zhao JC, Cohen JL, Depetris D, Yagello M, Lejeune L, Bruel S, Mattéï MG, Klatzmann D.

J Immunol. 1997 Oct 1;159(7):3383-90.

PMID:
9317137
35.

Cloning, structural analysis, and mapping of the B30 and B7 multigenic families to the major histocompatibility complex (MHC) and other chromosomal regions.

Henry J, Ribouchon M, Depetris D, Matteï M, Offer C, Tazi-Ahnini R, Pontarotti P.

Immunogenetics. 1997;46(5):383-95.

PMID:
9271628
37.

cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

Procaccio V, Depetris D, Soularue P, Mattei MG, Lunardi J, Issartel JP.

Biochim Biophys Acta. 1997 Mar 20;1351(1-2):37-41.

PMID:
9116042
38.

Cloning of the genes encoding two murine and human cochlear unconventional type I myosins.

Crozet F, el Amraoui A, Blanchard S, Lenoir M, Ripoll C, Vago P, Hamel C, Fizames C, Levi-Acobas F, Depétris D, Mattei MG, Weil D, Pujol R, Petit C.

Genomics. 1997 Mar 1;40(2):332-41.

PMID:
9119401
39.

Assignment of IL12RB2 to human chromosome 1p31.3-->p31.2 between D1S230 and D1S198.

Morton SM, Bocaccio I, Depetris D, Mattei M, Dessein A.

Cytogenet Cell Genet. 1997;79(3-4):282-3. No abstract available.

PMID:
9605872
40.

Localization of ribosomal genes in human spermatogonia by fluorescent in situ hybridization and confocal microscopy.

Lévy N, Navarro A, Depetris D, Moretti C, Stahl A.

Cytogenet Cell Genet. 1996;73(4):290-4.

PMID:
8751378
41.

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.

Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG.

Eur J Hum Genet. 1996;4(2):88-100.

PMID:
8744026
42.

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

Levy A, Demczuk S, Aurias A, Depétris D, Mattei MG, Philip N.

Hum Mol Genet. 1995 Dec;4(12):2417-9. No abstract available.

PMID:
8634722
43.

Clinical and molecular study of DiGeorge sequence.

Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, Depetris D, Mattei MG, Philip N.

Eur J Pediatr. 1994 Nov;153(11):813-20.

PMID:
7843195
44.

Hormonal regulation of some steps of thyroglobulin synthesis and secretion in bicameral cell culture.

Desruisseau S, Alquier C, Depetris D, Gruffat D, Chabaud O.

J Cell Physiol. 1994 Aug;160(2):336-44.

PMID:
8040191
45.

Chromosomal localization of human RNA polymerase II subunit genes.

Acker J, Mattei MG, Wintzerith M, Roeckel N, Depetris D, Vigneron M, Kedinger C.

Genomics. 1994 Apr;20(3):496-9.

PMID:
8034326
46.

Chimpanzee Rh-like blood group genes map to chromosome region 1p36.1-->p34.2 by in situ hybridization.

Calvas P, Blancher A, Depétris D, Salvignol I, Chérif-Zahar B, Mattéi MG.

Cytogenet Cell Genet. 1994;65(4):247-9.

PMID:
8258298
47.

In situ hybridization localizes the human OTF3 to chromosome 6p21.3-->p22 and OTF3L to 12p13.

Guillaudeux T, Mattei MG, Depetris D, Le Bouteiller P, Pontarotti P.

Cytogenet Cell Genet. 1993;63(4):212-4.

PMID:
8500351
48.

Thyrotrophin regulation of apical and basal exocytosis of thyroglobulin by porcine thyroid monolayers.

Chambard M, Depetris D, Gruffat D, Gonzalvez S, Mauchamp J, Chabaud O.

J Mol Endocrinol. 1990 Jun;4(3):193-9.

PMID:
2378673
49.

Characterization of tumor-specific transplantation antigen induced in cells infected or transformed by polyomavirus.

Barra Y, Ito Y, Depétris D, Meyer G.

J Natl Cancer Inst. 1983 Feb;70(2):283-90.

PMID:
6296521

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