Heathy Casa

Stay updated with news, ideals and new technology for your health!

Genetics Home Reference: poikiloderma with neutropenia

  • Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation & clinical diagnostic criteria. Br J Dermatol. 2010 Oct;163(4):866-9. doi: 10.1111/j.1365-2133.2010.09929.x. Epub 2010 Sep 7.

  • Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I am will, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L. Book C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis. 2012 Jan 23;7:7. doi: 10.1186/1750-1172-7-7.

  • Farruggia P, Indaco S, Dufour C, Lanza T, Mosa C, Macaluso A, Milioto M, D’Angelo P, Lanciotti M. Poikiloderma with neutropenia: a case report & review of the literature. J Pediatr Hematol Oncol. 2014 May;36(4):297-300. doi: 10.1097/MPH.0b013e31829f35e7. Review.

  • Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC, Shlien A, Campbell P, Kirwan M, Dokal I, Warren AJ. Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. Blood. 2013 Feb 7;121(6):1028-38. doi: 10.1182/blood-2012-10-461491. Epub 2012 Nov 27.

  • Koparir A, Gezdirici A, Koparir E, Ulucan H, Yilmaz M, Erdemir A, Yuksel A, Ozen M. Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype & literature review. Am J Med Genet A. 2014 Oct;164A(10):2535-40. doi: 10.1002/ajmg.a.36683. Epub 2014 Jul 16.

  • Mroczek S, Dziembowski A. U6 RNA biogenesis and disease association. Wiley Interdiscip Rev RNA. 2013 Sep-Oct;4(5):581-92. doi: 10.1002/wrna.1181. Epub 2013 Jun 14. Review.

  • Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I am, Ginalski K, Dziembowski A. C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification. Genes Dev. 2012 Sep 1;26(17):1911-25. doi: 10.1101/gad.193169.112. Epub 2012 Aug 16.

  • Shchepachev V, Azzalin CM. The Mpn1 RNA exonuclease: cellular functions & implication in disease. FEBS Lett. 2013 Jun 27;587(13):1858-62. doi: 10.1016/j.febslet.2013.05.005. Epub 2013 May 15. Review.

  • Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Erratum in: Am J Hum Genet. 2010 Sep 10;87(3):445.

  • Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I am. Mutations in C16orf57 & normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.

  • Wang L, Clericuzio C, Larizza L. Poikiloderma with Neutropenia. 2017 Oct 26. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK459118/

  • Source: ghr.nlm.nih.gov

    Updated: June 13, 2018 — 3:30 am

    Leave a Reply

    Your email address will not be published. Required fields are marked *

    Heathy Casa © 2018 Frontier Theme
    Do NOT follow this link or you will be banned from the site!
    %d bloggers like this: