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Items: 1 to 20 of 117

1.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Tesch VK, IJspeert H, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG.

Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018.

2.

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies.

Durandy A, Taubenheim N, Peron S, Fischer A.

Adv Immunol. 2007;94:275-306. Review.

PMID:
17560278
3.

MSH2/MSH6 complex promotes error-free repair of AID-induced dU:G mispairs as well as error-prone hypermutation of A:T sites.

Roa S, Li Z, Peled JU, Zhao C, Edelmann W, Scharff MD.

PLoS One. 2010 Jun 17;5(6):e11182. doi: 10.1371/journal.pone.0011182.

4.

The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination.

Chahwan R, van Oers JM, Avdievich E, Zhao C, Edelmann W, Scharff MD, Roa S.

J Exp Med. 2012 Apr 9;209(4):671-8. doi: 10.1084/jem.20111531. Epub 2012 Mar 26.

5.

Analysis of somatic hypermutations in the IgM switch region in human B cells.

Horiuchi K, Imai K, Mitsui-Sekinaka K, Yeh TW, Ochs HD, Durandy A, Nonoyama S.

J Allergy Clin Immunol. 2014 Aug;134(2):411-9. doi: 10.1016/j.jaci.2014.02.043. Epub 2014 May 15.

PMID:
24836470
6.

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).

Ramchander NC, Ryan NA, Crosbie EJ, Evans DG.

BMC Med Genet. 2017 Apr 5;18(1):40. doi: 10.1186/s12881-017-0391-x.

7.

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Bakry D, Aronson M, Durno C, Rimawi H, Farah R, Alharbi QK, Alharbi M, Shamvil A, Ben-Shachar S, Mistry M, Constantini S, Dvir R, Qaddoumi I, Gallinger S, Lerner-Ellis J, Pollett A, Stephens D, Kelies S, Chao E, Malkin D, Bouffet E, Hawkins C, Tabori U.

Eur J Cancer. 2014 Mar;50(5):987-96. doi: 10.1016/j.ejca.2013.12.005. Epub 2014 Jan 15.

PMID:
24440087
8.

DNA polymerases β and λ do not directly affect Ig variable region somatic hypermutation although their absence reduces the frequency of mutations.

Schrader CE, Linehan EK, Ucher AJ, Bertocci B, Stavnezer J.

DNA Repair (Amst). 2013 Dec;12(12):1087-93. doi: 10.1016/j.dnarep.2013.09.002. Epub 2013 Sep 29.

9.

MSH6- or PMS2-deficiency causes re-replication in DT40 B cells, but it has little effect on immunoglobulin gene conversion or on repair of AID-generated uracils.

Campo VA, Patenaude AM, Kaden S, Horb L, Firka D, Jiricny J, Di Noia JM.

Nucleic Acids Res. 2013 Mar 1;41(5):3032-46. doi: 10.1093/nar/gks1470. Epub 2013 Jan 11.

10.

Immunodeficiency in Bloom's Syndrome.

Schoenaker MHD, Henriet SS, Zonderland J, van Deuren M, Pan-Hammarström Q, Posthumus-van Sluijs SJ, Pico-Knijnenburg I, Weemaes CMR, IJspeert H.

J Clin Immunol. 2018 Jan;38(1):35-44. doi: 10.1007/s10875-017-0454-y. Epub 2017 Nov 2.

11.

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

Baris HN, Barnes-Kedar I, Toledano H, Halpern M, Hershkovitz D, Lossos A, Lerer I, Peretz T, Kariv R, Cohen S, Half EE, Magal N, Drasinover V, Wimmer K, Goldberg Y, Bercovich D, Levi Z.

Pediatr Blood Cancer. 2016 Mar;63(3):418-27. doi: 10.1002/pbc.25818. Epub 2015 Nov 6.

PMID:
26544533
12.

Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.

AlHarbi M, Ali Mobark N, AlMubarak L, Aljelaify R, AlSaeed M, Almutairi A, Alqubaishi F, Hussain ME, Balbaid AAO, Said Marie A, AlSubaie L, AlShieban S, alTassan N, Ramkissoon SH, Abedalthagafi M.

Oncologist. 2018 Dec;23(12):1401-1406. doi: 10.1634/theoncologist.2018-0163. Epub 2018 Aug 13.

PMID:
30104292
13.

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Offer SM, Pan-Hammarström Q, Hammarström L, Harris RS.

PLoS One. 2010 Aug 18;5(8):e12260. doi: 10.1371/journal.pone.0012260.

14.

Mismatch repair proteins MSH2, MLH1, and EXO1 are important for class-switch recombination events occurring in B cells that lack nonhomologous end joining.

Eccleston J, Yan C, Yuan K, Alt FW, Selsing E.

J Immunol. 2011 Feb 15;186(4):2336-43. doi: 10.4049/jimmunol.1003104. Epub 2011 Jan 17.

15.

Antibody diversification caused by disrupted mismatch repair and promiscuous DNA polymerases.

Zanotti KJ, Gearhart PJ.

DNA Repair (Amst). 2016 Feb;38:110-116. doi: 10.1016/j.dnarep.2015.11.011. Epub 2015 Dec 2. Review.

16.

Mismatch-mediated error prone repair at the immunoglobulin genes.

Chahwan R, Edelmann W, Scharff MD, Roa S.

Biomed Pharmacother. 2011 Dec;65(8):529-36. doi: 10.1016/j.biopha.2011.09.001. Epub 2011 Oct 24. Review.

17.

Assessing somatic hypermutation in Ramos B cells after overexpression or knockdown of specific genes.

Upton DC, Unniraman S.

J Vis Exp. 2011 Nov 1;(57):e3573. doi: 10.3791/3573.

18.

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

van Zelm MC, Bartol SJ, Driessen GJ, Mascart F, Reisli I, Franco JL, Wolska-Kusnierz B, Kanegane H, Boon L, van Dongen JJ, van der Burg M.

J Allergy Clin Immunol. 2014 Jul;134(1):135-44. doi: 10.1016/j.jaci.2013.11.015. Epub 2014 Jan 11.

PMID:
24418477
19.

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

Ingham D, Diggle CP, Berry I, Bristow CA, Hayward BE, Rahman N, Markham AF, Sheridan EG, Bonthron DT, Carr IM.

Hum Mutat. 2013 Jun;34(6):847-52. doi: 10.1002/humu.22311. Epub 2013 Apr 2.

PMID:
23483711
20.

Hijacked DNA repair proteins and unchained DNA polymerases.

Saribasak H, Rajagopal D, Maul RW, Gearhart PJ.

Philos Trans R Soc Lond B Biol Sci. 2009 Mar 12;364(1517):605-11. doi: 10.1098/rstb.2008.0188. Review.

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