Estimation and partition of heritability in human populations using whole-genome analysis methods

AAE Vinkhuyzen, NR Wray, J Yang… - Annual review of …, 2013 - annualreviews.org
Understanding genetic variation of complex traits in human populations has moved from the
quantification of the resemblance between close relatives to the dissection of genetic …

Red cell indices in classification and treatment of anemias: from MM Wintrobes's original 1934 classification to the third millennium

C Brugnara, N Mohandas - Current opinion in hematology, 2013 - journals.lww.com
Red cell indices in classification and treatment of anemias:... : Current Opinion in
Hematology Red cell indices in classification and treatment of anemias: from MM …

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

DE Bauer, SC Kamran, S Lessard, J Xu, Y Fujiwara… - Science, 2013 - science.org
Genome-wide association studies (GWASs) have ascertained numerous trait-associated
common genetic variants, frequently localized to regulatory DNA. We found that common …

Ancient DNA reveals key stages in the formation of central European mitochondrial genetic diversity

G Brandt, W Haak, CJ Adler, C Roth, A Szécsényi-Nagy… - Science, 2013 - science.org
The processes that shaped modern European mitochondrial DNA (mtDNA) variation remain
unclear. The initial peopling by Palaeolithic hunter-gatherers~ 42,000 years ago and the …

SMIM1 underlies the Vel blood group and influences red blood cell traits

A Cvejic, L Haer-Wigman, JC Stephens, M Kostadima… - Nature …, 2013 - nature.com
The blood group Vel was discovered 60 years ago, but the underlying gene is unknown.
Individuals negative for the Vel antigen are rare and are required for the safe transfusion of …

Beyond ubiquitination: the atypical functions of Fbxo7 and other F-box proteins

DE Nelson, SJ Randle, H Laman - Open biology, 2013 - royalsocietypublishing.org
F-box proteins (FBPs) are substrate-recruiting subunits of Skp1-cullin1-FBP (SCF)-type E3
ubiquitin ligases. To date, 69 FBPs have been identified in humans, but ubiquitinated …

Genetic association studies in β-hemoglobinopathies

SL Thein - Hematology 2013, the American Society of …, 2013 - ashpublications.org
Abstract Characterization of the molecular basis of the β-thalassemias and sickle cell
disease (SCD) clearly showed that individuals with the same β-globin genotypes can have …

[HTML][HTML] Breed-specific hematological phenotypes in the dog: a natural resource for the genetic dissection of hematological parameters in a mammalian species

J Lawrence, YMR Chang, B Szladovits, LJ Davison… - PloS one, 2013 - journals.plos.org
Remarkably little has been published on hematological phenotypes of the domestic dog, the
most polymorphic species on the planet. Information on the signalment and complete blood …

Inherited predisposition to myeloproliferative neoplasms

AV Jones, NCP Cross - Therapeutic advances in …, 2013 - journals.sagepub.com
Myeloproliferative neoplasms (MPNs) are haematological disorders characterized by an
overproduction of mature myeloid cells with a tendency to transform to acute myeloid …

[HTML][HTML] Variation at 3p24. 1 and 6q23. 3 influences the risk of Hodgkin's lymphoma

M Frampton, MI da Silva Filho, P Broderick… - Nature …, 2013 - nature.com
In addition to HLA, recent genome-wide association studies (GWASs) of Hodgkin's
lymphoma (HL) have identified susceptibility loci for HL at 2p16. 1, 8q24. 21 and 10p14. In …