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Items: 1 to 50 of 72

1.

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, Oksenhendler E, Blanche S, Fischer A, Revy P, Stoppa-Lyonnet D, Picard C, de Villartay JP.

J Allergy Clin Immunol. 2018 Jun 12. pii: S0091-6749(18)30849-2. doi: 10.1016/j.jaci.2018.05.028. [Epub ahead of print]

PMID:
29906526
2.

Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.

Lesport E, Ferster A, Biver A, Roch B, Vasquez N, Jabado N, Vives FL, Revy P, Soulier J, de Villartay JP.

Oncotarget. 2017 Dec 17;9(3):3779-3793. doi: 10.18632/oncotarget.23375. eCollection 2018 Jan 9.

3.

PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice.

Abramowski V, Etienne O, Elsaid R, Yang J, Berland A, Kermasson L, Roch B, Musilli S, Moussu JP, Lipson-Ruffert K, Revy P, Cumano A, Boussin FD, de Villartay JP.

Cell Death Differ. 2018 Feb;25(2):444-452. doi: 10.1038/cdd.2017.184. Epub 2017 Oct 27.

PMID:
29077092
4.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

5.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium, Boileau C, Crestani B, Dieudé P.

Eur Respir J. 2017 May 11;49(5). pii: 1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May.

6.

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.

Carrillo J, Calvete O, Pintado-Berninches L, Manguan-García C, Sevilla Navarro J, Arias-Salgado EG, Sastre L, Guenechea G, López Granados E, de Villartay JP, Revy P, Benitez J, Perona R.

Hum Mol Genet. 2017 May 15;26(10):1900-1914. doi: 10.1093/hmg/ddx098.

PMID:
28369633
7.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
8.

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P.

Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29.

9.

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.

Borie R, Tabèze L, Thabut G, Nunes H, Cottin V, Marchand-Adam S, Prevot G, Tazi A, Cadranel J, Mal H, Wemeau-Stervinou L, Bergeron Lafaurie A, Israel-Biet D, Picard C, Reynaud Gaubert M, Jouneau S, Naccache JM, Mankikian J, Ménard C, Cordier JF, Valeyre D, Reocreux M, Grandchamp B, Revy P, Kannengiesser C, Crestani B.

Eur Respir J. 2016 Dec;48(6):1721-1731. doi: 10.1183/13993003.02115-2015. Epub 2016 Nov 11.

10.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

11.

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

Zhang S, Pondarre C, Pennarun G, Labussiere-Wallet H, Vera G, France B, Chansel M, Rouvet I, Revy P, Lopez B, Soulier J, Bertrand P, Callebaut I, de Villartay JP.

J Exp Med. 2016 May 30;213(6):1011-28. doi: 10.1084/jem.20151183. Epub 2016 May 16.

12.

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P.

Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23.

PMID:
26847928
13.

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair.

Lescale C, Abramowski V, Bedora-Faure M, Murigneux V, Vera G, Roth DB, Revy P, de Villartay JP, Deriano L.

Nat Commun. 2016 Feb 2;7:10529. doi: 10.1038/ncomms10529.

14.

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P.

J Allergy Clin Immunol. 2015 Dec;136(6):1619-1626.e5. doi: 10.1016/j.jaci.2015.06.008. Epub 2015 Jul 26.

PMID:
26220525
15.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B.

Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.

16.

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA.

Br J Haematol. 2015 Aug;170(4):457-71. doi: 10.1111/bjh.13442. Epub 2015 May 4. Review.

17.

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

Schertzer M, Jouravleva K, Perderiset M, Dingli F, Loew D, Le Guen T, Bardoni B, de Villartay JP, Revy P, Londoño-Vallejo A.

Nucleic Acids Res. 2015 Feb 18;43(3):1834-47. doi: 10.1093/nar/gku1402. Epub 2015 Jan 27.

18.

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations.

Borie R, Kannengiesser C, Hirschi S, Le Pavec J, Mal H, Bergot E, Jouneau S, Naccache JM, Revy P, Boutboul D, Peffault de la Tour R, Wemeau-Stervinou L, Philit F, Cordier JF, Thabut G, Crestani B, Cottin V; Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM“O”P).

J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13.

19.

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

Rebehmed J, Revy P, Faure G, de Villartay JP, Callebaut I.

FEBS Lett. 2014 Nov 28;588(23):4431-7. doi: 10.1016/j.febslet.2014.10.014. Epub 2014 Oct 18.

20.

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?

Kannengiesser C, Borie R, Revy P.

Eur Respir J. 2014 Jul;44(1):269-70. doi: 10.1183/09031936.00038714. No abstract available.

21.

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

Le Guen T, Jullien L, Schertzer M, Lefebvre A, Kermasson L, de Villartay JP, Londoño-Vallejo A, Revy P.

Med Sci (Paris). 2013 Dec;29(12):1138-44. doi: 10.1051/medsci/20132912018. Epub 2013 Dec 20. Review. French.

22.

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

Faure G, Revy P, Schertzer M, Londono-Vallejo A, Callebaut I.

Proteins. 2014 Jun;82(6):897-903. doi: 10.1002/prot.24438. Epub 2013 Nov 22.

PMID:
24130156
23.

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS.

J Allergy Clin Immunol. 2013 Jul;132(1):151-8. doi: 10.1016/j.jaci.2013.04.047. Epub 2013 May 31. Erratum in: J Allergy Clin Immunol. 2013 Sep;132(3):773. J Allergy Clin Immunol. 2013 Sep;132(3):773.

24.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P.

Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15.

PMID:
23591994
25.

Genotoxic signature in cord blood cells of newborns exposed in utero to a Zidovudine-based antiretroviral combination.

André-Schmutz I, Dal-Cortivo L, Six E, Kaltenbach S, Cocchiarella F, Le Chenadec J, Cagnard N, Cordier AG, Benachi A, Mandelbrot L, Azria E, Bouallag N, Luce S, Ternaux B, Reimann C, Revy P, Radford-Weiss I, Leschi C, Recchia A, Mavilio F, Cavazzana M, Blanche S.

J Infect Dis. 2013 Jul 15;208(2):235-43. doi: 10.1093/infdis/jit149. Epub 2013 Apr 4.

PMID:
23559464
26.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP.

J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21.

27.

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G.

J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10.

28.

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.

Vera G, Rivera-Munoz P, Abramowski V, Malivert L, Lim A, Bole-Feysot C, Martin C, Florkin B, Latour S, Revy P, de Villartay JP.

Mol Cell Biol. 2013 Feb;33(4):701-11. doi: 10.1128/MCB.01057-12. Epub 2012 Dec 3.

29.

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.

Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P.

Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20.

PMID:
23111928
30.

[Dyskeratosis congenita: short telomeres are not the rule].

Touzot F, Le Guen T, de Villartay JP, Revy P.

Med Sci (Paris). 2012 Jun-Jul;28(6-7):618-24. doi: 10.1051/medsci/2012286015. Epub 2012 Jul 16. Review. French.

31.

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.

Du L, Peng R, Björkman A, Filipe de Miranda N, Rosner C, Kotnis A, Berglund M, Liu C, Rosenquist R, Enblad G, Sundström C, Hojjat-Farsangi M, Rabbani H, Teixeira MR, Revy P, Durandy A, Zeng Y, Gennery AR, de Villartay JP, Pan-Hammarström Q.

J Exp Med. 2012 Feb 13;209(2):291-305. doi: 10.1084/jem.20110325. Epub 2012 Feb 6.

32.

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P.

J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10.

PMID:
22078571
33.

Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining.

Ropars V, Drevet P, Legrand P, Baconnais S, Amram J, Faure G, Márquez JA, Piétrement O, Guerois R, Callebaut I, Le Cam E, Revy P, de Villartay JP, Charbonnier JB.

Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12663-8. doi: 10.1073/pnas.1100758108. Epub 2011 Jul 18.

34.

Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.

Çağdaş D, Özgür TT, Asal GT, Revy P, De Villartay JP, van der Burg M, Sanal Ö, Tezcan I.

Pediatr Transplant. 2012 Aug;16(5):E167-71. doi: 10.1111/j.1399-3046.2011.01491.x. Epub 2011 Apr 27.

PMID:
21535335
35.

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

Malivert L, Ropars V, Nunez M, Drevet P, Miron S, Faure G, Guerois R, Mornon JP, Revy P, Charbonnier JB, Callebaut I, de Villartay JP.

J Biol Chem. 2010 Aug 20;285(34):26475-83. doi: 10.1074/jbc.M110.138156. Epub 2010 Jun 17.

36.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.

Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P.

Proc Natl Acad Sci U S A. 2010 Jun 1;107(22):10097-102. doi: 10.1073/pnas.0914918107. Epub 2010 May 17.

37.

Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases lambda and mu for nonhomologous end joining in human whole-cell extracts.

Akopiants K, Zhou RZ, Mohapatra S, Valerie K, Lees-Miller SP, Lee KJ, Chen DJ, Revy P, de Villartay JP, Povirk LF.

Nucleic Acids Res. 2009 Jul;37(12):4055-62. doi: 10.1093/nar/gkp283. Epub 2009 May 6.

38.

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo.

Malivert L, Callebaut I, Rivera-Munoz P, Fischer A, Mornon JP, Revy P, de Villartay JP.

Mol Cell Biol. 2009 Mar;29(5):1116-22. doi: 10.1128/MCB.01521-08. Epub 2008 Dec 22.

39.

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

Soulas-Sprauel P, Rivera-Munoz P, Malivert L, Le Guyader G, Abramowski V, Revy P, de Villartay JP.

Oncogene. 2007 Dec 10;26(56):7780-91. Review.

PMID:
18066091
40.

DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.

Rivera-Munoz P, Malivert L, Derdouch S, Azerrad C, Abramowski V, Revy P, Villartay JP.

Eur J Immunol. 2007 Nov;37 Suppl 1:S71-82. Review.

41.

Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.

Wu PY, Frit P, Malivert L, Revy P, Biard D, Salles B, Calsou P.

J Biol Chem. 2007 Nov 2;282(44):31937-43. Epub 2007 Aug 24.

42.

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.

Péron S, Pan-Hammarström Q, Imai K, Du L, Taubenheim N, Sanal O, Marodi L, Bergelin-Besançon A, Benkerrou M, de Villartay JP, Fischer A, Revy P, Durandy A.

J Exp Med. 2007 May 14;204(5):1207-16. Epub 2007 May 7.

43.

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A.

Eur J Med Genet. 2007 May-Jun;50(3):176-87. Epub 2007 Feb 21.

PMID:
17395558
44.

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

Revy P, Malivert L, de Villartay JP.

Curr Opin Allergy Clin Immunol. 2006 Dec;6(6):416-20. Review.

PMID:
17088645
45.

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S.

Nature. 2006 Nov 2;444(7115):110-4.

PMID:
17080092
46.

[Cernunnos, a novel DNA repair factor essential for the immune system].

Revy P, de Villartay JP.

Med Sci (Paris). 2006 Jun-Jul;22(6-7):569-70. French. No abstract available.

47.

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

Callebaut I, Malivert L, Fischer A, Mornon JP, Revy P, de Villartay JP.

J Biol Chem. 2006 May 19;281(20):13857-60. Epub 2006 Mar 29.

48.

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.

Buck D, Malivert L, de Chasseval R, Barraud A, Fondanèche MC, Sanal O, Plebani A, Stéphan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P.

Cell. 2006 Jan 27;124(2):287-99.

49.

Assessment of dietary zinc requirement of weaned piglets fed diets with or without microbial phytase.

Revy PS, Jondreville C, Dourmad JY, Nys Y.

J Anim Physiol Anim Nutr (Berl). 2006 Feb;90(1-2):50-9.

PMID:
16422770
50.

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