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Items: 1 to 50 of 520

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.

Integration of H-2Z1, a somatosensory cortex-expressed transgene, interferes with the expression of the Satb1 and Tbc1d5 flanking genes and affects the differentiation of a subset of cortical interneurons.

Narboux-Nême N, Goïame R, Mattéi MG, Cohen-Tannoudji M, Wassef M.

J Neurosci. 2012 May 23;32(21):7287-300. doi: 10.1523/JNEUROSCI.6068-11.2012.

3.

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.

Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, Robert F, Giraudon-Paoli M, Riessland M, Mattei MG, Andriambeloson E, Wirth B, Sendtner M, Gallego J, Pruss RM, Bordet T.

Neurobiol Dis. 2010 Apr;38(1):125-35. doi: 10.1016/j.nbd.2010.01.006. Epub 2010 Jan 18.

PMID:
20085811
4.

Hes1 is expressed in the second heart field and is required for outflow tract development.

Rochais F, Dandonneau M, Mesbah K, Jarry T, Mattei MG, Kelly RG.

PLoS One. 2009 Jul 17;4(7):e6267. doi: 10.1371/journal.pone.0006267.

5.

Centrosome overduplication and mitotic instability in PKD2 transgenic lines.

Burtey S, Riera M, Ribe E, Pennenkamp P, Rance R, Luciani J, Dworniczak B, Mattei MG, Fontés M.

Cell Biol Int. 2008 Oct;32(10):1193-8. doi: 10.1016/j.cellbi.2008.07.021. Epub 2008 Aug 6.

PMID:
18725310
6.

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
7.

The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning.

Théveniau-Ruissy M, Dandonneau M, Mesbah K, Ghez O, Mattei MG, Miquerol L, Kelly RG.

Circ Res. 2008 Jul 18;103(2):142-8. doi: 10.1161/CIRCRESAHA.108.172189. Epub 2008 Jun 26.

PMID:
18583714
8.

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.

9.

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.

10.

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
11.

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
12.

Intrachromosomal triplication for the distal part of chromosome 15q.

Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E.

Am J Med Genet A. 2005 Jul 15;136(2):179-84. Review.

PMID:
15940678
13.

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.

14.

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G.

Am J Med Genet A. 2005 Apr 1;134A(1):39-44.

PMID:
15732060
15.

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
16.

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.

Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ.

J Med Genet. 2004 Nov;41(11):814-25. Erratum in: J Med Genet. 2004 Dec;41(12):960.

17.

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.

18.

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.

19.

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.

20.

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
21.

Genomic organization and the tissue distribution of alternatively spliced isoforms of the mouse Spatial gene.

Irla M, Puthier D, Granjeaud S, Saade M, Victorero G, Mattei MG, Nguyen C.

BMC Genomics. 2004 Jul 5;5(1):41.

22.
23.

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

Heidet L, Borza DB, Jouin M, Sich M, Mattei MG, Sado Y, Hudson BG, Hastie N, Antignac C, Gubler MC.

Am J Pathol. 2003 Oct;163(4):1633-44.

24.

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.

25.

Cloning and characterization of the mouse homologue of the human dendritic cell maturation marker CD208/DC-LAMP.

Salaun B, de Saint-Vis B, Clair-Moninot V, Pin JJ, Barthélemy-Dubois C, Kissenpfennig A, Peronne C, Bates E, Mattei MG, Lebecque S.

Eur J Immunol. 2003 Sep;33(9):2619-29.

26.

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
27.

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
28.

Assignment of tumor protein p53 induced nuclear protein 1 (TP53INP1) gene to human chromosome band 8q22 by in situ hybridization.

Nowak J, Tomasini R, Mattei MG, Azizi Samir LA, Dagorn JC, Dusetti N, Iovanna JL, Pébusque MJ.

Cytogenet Genome Res. 2002;97(1-2):140E. No abstract available.

29.

Synteny comparison between apes and human using fine-mapping of the genome.

de Pontbriand A, Wang XP, Cavaloc Y, Mattei MG, Galibert F.

Genomics. 2002 Oct;80(4):395-401.

PMID:
12376093
30.

A new Groucho TLE4 protein may regulate the repressive activity of Pax5 in human B lymphocytes.

Milili M, Gauthier L, Veran J, Mattei MG, Schiff C.

Immunology. 2002 Aug;106(4):447-55.

31.

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.

32.

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.

33.

A novel mechanism for thalassaemia intermedia.

Badens C, Mattei MG, Imbert AM, Lapouméroulie C, Martini N, Michel G, Lena-Russo D.

Lancet. 2002 Jan 12;359(9301):132-3.

PMID:
11809258
34.

Identification of mouse langerin/CD207 in Langerhans cells and some dendritic cells of lymphoid tissues.

Valladeau J, Clair-Moninot V, Dezutter-Dambuyant C, Pin JJ, Kissenpfennig A, Mattéi MG, Ait-Yahia S, Bates EE, Malissen B, Koch F, Fossiez F, Romani N, Lebecque S, Saeland S.

J Immunol. 2002 Jan 15;168(2):782-92.

35.

The gene and pseudogenes of Cbx3/mHP1 gamma.

Jones DO, Mattei MG, Horsley D, Cowell IG, Singh PB.

DNA Seq. 2001;12(3):147-60.

PMID:
11762190
36.

A human RNA polymerase II subunit is encoded by a recently generated multigene family.

Grandemange S, Schaller S, Yamano S, Du Manoir S, Shpakovski GV, Mattei MG, Kedinger C, Vigneron M.

BMC Mol Biol. 2001;2:14. Epub 2001 Nov 30.

37.

SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling.

Takash W, Cañizares J, Bonneaud N, Poulat F, Mattéi MG, Jay P, Berta P.

Nucleic Acids Res. 2001 Nov 1;29(21):4274-83.

38.
39.

hH-Rev107, a class II tumor suppressor gene, is expressed by post-meiotic testicular germ cells and CIS cells but not by human testicular germ cell tumors.

Siegrist S, Féral C, Chami M, Solhonne B, Mattéi MG, Rajpert-De Meyts E, Guellaën G, Bulle F.

Oncogene. 2001 Aug 23;20(37):5155-63.

40.

Vanin genes are clustered (human 6q22-24 and mouse 10A2B1) and encode isoforms of pantetheinase ectoenzymes.

Martin F, Malergue F, Pitari G, Philippe JM, Philips S, Chabret C, Granjeaud S, Mattei MG, Mungall AJ, Naquet P, Galland F.

Immunogenetics. 2001 May-Jun;53(4):296-306.

PMID:
11491533
41.

The myosin light chain kinase gene is not duplicated in mouse: partial structure and chromosomal localization of Mylk.

Giorgi D, Ferraz C, Mattéi MG, Demaille J, Rouquier S.

Genomics. 2001 Jul;75(1-3):49-56.

PMID:
11472067
42.

Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter.

Broccardo C, Osorio J, Luciani MF, Schriml LM, Prades C, Shulenin S, Arnould I, Naudin L, Lafargue C, Rosier M, Jordan B, Mattei MG, Dean M, Denèfle P, Chimini G.

Cytogenet Cell Genet. 2001;92(3-4):264-70.

PMID:
11435699
43.

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.

45.

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.

Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G.

J Med Genet. 2001 Feb;38(2):121-5. No abstract available.

46.

Identification, characterization and leucocyte expression of Siglec-10, a novel human sialic acid-binding receptor.

Munday J, Kerr S, Ni J, Cornish AL, Zhang JQ, Nicoll G, Floyd H, Mattei MG, Moore P, Liu D, Crocker PR.

Biochem J. 2001 Apr 15;355(Pt 2):489-97.

47.

Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes.

Maiti AK, Mattéi MG, Jorissen M, Volz A, Zeigler A, Bouvagnet P.

Eur J Hum Genet. 2000 Dec;8(12):923-32.

48.

The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel disease 1 locus and are embedded in an intron of a gene of unknown function.

Bates EE, Kissenpfennig A, Péronne C, Mattei MG, Fossiez F, Malissen B, Lebecque S.

Immunogenetics. 2000 Nov;52(1-2):112-20.

PMID:
11132146
49.

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
50.

Isolation and characterization of Suv39h2, a second histone H3 methyltransferase gene that displays testis-specific expression.

O'Carroll D, Scherthan H, Peters AH, Opravil S, Haynes AR, Laible G, Rea S, Schmid M, Lebersorger A, Jerratsch M, Sattler L, Mattei MG, Denny P, Brown SD, Schweizer D, Jenuwein T.

Mol Cell Biol. 2000 Dec;20(24):9423-33.

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