A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer

(2010) N. F. Wasserman et al.   GENOME RESEARCH

Inherited Variation in Gene Expression

(2009) Daniel A. Skelly et al.   Annual Review of Genomics and Human Genetics

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

(2009) A. Iolascon et al.   HAEMATOLOGICA

Down-regulated expression of the TSAP6 protein in liver is associated with a transition from cirrhosis to hepatocellular carcinoma

(2009) Frédérique Caillot et al.   HISTOPATHOLOGY

Erythropoietic protoporphyria

(2009) Mario Lecha et al.   Orphanet Journal of Rare Diseases

Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment

(2009) Clara Camaschella   SEMINARS IN HEMATOLOGY

Non-imprinted allele-specific DNA methylation on human autosomes

(2009) Yingying Zhang et al.   GENOME BIOLOGY

Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism

(2008) T. Lambe et al.   BLOOD

Exosome secretion, including the DNA damage-induced p53-dependent secretory pathway, is severely compromised in TSAP6/Steap3-null mice

(2008) A Lespagnol et al.   CELL DEATH AND DIFFERENTIATION

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE

Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression

(2008) David Serre et al.   PLoS Genetics