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Editorial
. 2010 Aug;95(8):1236-40.
doi: 10.3324/haematol.2010.025619.

Inherited bone marrow failure syndromes

Inderjeet Dokal, Tom Vulliamy
Editorial

Inherited bone marrow failure syndromes

Inderjeet Dokal et al. Haematologica. 2010 Aug.
No abstract available

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Figures

Figure 1.
Figure 1.
Interconnected pathways that cause bone marrow failure. Genes known to be mutated in three different pathways that lead to bone marrow failure are highlighted. Genes mutated in the telomere maintenance pathway are circled in red. Interactions are as defined in Entrez Gene at http://www.ncbi.nlm.nih.gov/. Gene names for those mutated as well as for several key interconnecting proteins are as follows: RP ribosomal protein; FANC, Fanconi anemia complementation group; DKC1, dyskeratosis congenita 1, dyskerin; NOP10, nucleolar protein 10 homolog; NHP2, non-histone ribonucleoprotein 2 homolog; GAR1, glycine and arginine rich ribonucleoprotein 1 homolog; TERF1, telomeric repeat binding factor 1; TERF2, telomeric repeat binding factor 2; TINF2, TERF1-interacting nuclear factor 2; TERF2IP, TERF2 interacting protein (RAP1); POT1 protection of telomeres 1 homolog; TPP1, TIN2 interacting protein 1 (= ACD, adrenocortical dysplasia homolog); PINX1, PIN2 (=TERF1) interacting protein; ATM, ataxia telangiectasia mutated; M/R/N = MRE11/RAD50/NBS1, meiotic recombination 11 homolog A/radiation resistance 50 homolog/Nijmegen breakage syndrome 1; ATR, ataxia telangiectasia and Rad3 related (Seckel syndrome); BRCA1, breast cancer 1. BRIP1, BRCA1 interacting protein C-terminal helicase 1; PALB2, partner and localizer of BRCA2 (modified from reference 20).
See this image and copyright information in PMC

Comment on

References

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