PMID: 11918553Mar 29, 2002Paper

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome

British Journal of Haematology
Ian ThornleyM Freedman

Abstract

Haemopoietic dysfunction, ranging from single-lineage cytopenia to severe aplasia and/or myelodysplasia (MDS), is prominent in Shwachman-Diamond syndrome (SDS). To assess haemopoietic stem cell proliferation in SDS, we compared leucocyte telomere length in 12 patients with SDS to that of 41 controls, using an in-gel hybridization technique. SDS patients had an age-adjusted mean telomere length 1.4 kilobase pairs (kbp) shorter than controls (P < 0.0001). Patients with'non-severe' SDS (one- or two-lineage cytopenias; no MDS) had shortened telomeres (-1.4 kbp; P = 0.0004), as did those with 'severe' SDS. We conclude that stem cell hyperproliferation is a feature of SDS from its outset.

References

Dec 12, 1997·American Journal of Hematology·J BoultwoodJ S Wainscoat
Nov 11, 1999·British Journal of Haematology·F LeteurtreE Gluckman
Nov 28, 2000·Annual Review of Genetics·M J McEachernE H Blackburn

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Citations

Dec 24, 2008·Expert Reviews in Molecular Medicine·Yigal Dror
May 19, 2010·Expert Reviews in Molecular Medicine·Duncan M Baird
Aug 16, 2002·British Journal of Haematology·Yigal Dror, Melvin H Freedman
Oct 5, 2007·Nucleic Acids Research·Christine Kim GarciaJerry W Shay
Apr 30, 2005·Blood·Karyn M AustinAkiko Shimamura
Jun 17, 2006·Blood·Neal S YoungPhillip Scheinberg
May 5, 2007·Blood·Rodrigo T CaladoNeal S Young
Feb 2, 2008·Blood·Rodrigo T Calado, Neal S Young
Dec 15, 2010·Future Oncology·Chris Pepper, Duncan M Baird
May 15, 2010·Future Oncology·Michelle F MaritzKaren L MacKenzie
Mar 24, 2010·Pediatric Clinics of North America·Parinda MehtaFranklin O Smith
Dec 28, 2007·Mechanisms of Ageing and Development·Sharon A Savage, Blanche P Alter
Dec 24, 2011·Annals of the New York Academy of Sciences·Yigal DrorJohnson M Liu
Jul 11, 2006·Seminars in Hematology·Akiko Shimamura
May 8, 2009·Biochimica Et Biophysica Acta·Nicholas D Allen, Duncan M Baird
Sep 23, 2014·Blood·Danielle M TownsleyNeal S Young
Mar 7, 2008·Pediatric Blood & Cancer·L Vandy BlackRoger L Berkow
Jul 12, 2005·Pediatric Blood & Cancer·Fidel MajeedYigal Dror
Jul 28, 2005·Pediatric Blood & Cancer·Yigal Dror
Jun 17, 2020·International Journal of Laboratory Hematology·John L Frater

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