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Endogenous erythropoietin signaling facilitates skeletal muscle repair and recovery following pharmacologically induced damage
(Wiley, 2012)
Erythropoietin acts by binding to its cell surface receptor on erythroid progenitor cells to stimulate erythrocyte production. Erythropoietin receptor expression in nonhematopoietic tissue, including skeletal muscle ...
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
(Elsevier, 2017)
The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci ...
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
(Endocrine Soc, 2001-08-01)
Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSH beta -subunit, the TSH receptor, the G(A)alpha -subunit, and the transcription factor ...
Zebrafish cnbp Intron1 Plays a Fundamental Role in Controlling Spatiotemporal Gene Expression During Embryonic Development
(WILEY-LISS, DIV JOHN WILEY & SONS INC, 2009-09-02)
Cellular nucleic acid binding protein (CNBP) is a strikingly conserved zinc-finger nucleic acid chaperone required for forebrain development.
Its depletion causes forebrain truncation mainly as a consequence of a reduction ...
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
(Springer Nature, 2016)
We report a genome-wide association scan for facial features in approximately 6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 x 10(-8)) at single-nucleotide ...
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
(Cell PressGenética Molecular (GENMOL)Genética Regeneración y CáncerBaltimore, Estados Unidos, 2022)