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Human Molecular Genetics|December 17, 2010
The unfolded protein response in familial amyotrophic lateral sclerosisLijun Wang, Brian Popko, Raymond P RoosHuman Molecular Genetics|November 2, 2010
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular traffickingAnnie Michaud, Daniel Bur, Olivier Gribouval, et al.Human Molecular Genetics|November 2, 2010
Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundariesHywel J Williams, Nicholas Craddock, Giancarlo Russo, et al.Human Molecular Genetics|December 4, 2010
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsiaTanja Grau, Nikolai O Artemyev, Thomas Rosenberg, et al.Human Molecular Genetics|December 4, 2010
Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophyAlexis R Demonbreun, John P Fahrenbach, Kieran Deveaux, et al.Human Molecular Genetics|December 9, 2010
SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophyJeffery A Goldstein, Sean M Kelly, Peter P LoPresti, et al.Human Molecular Genetics|December 9, 2010
PINK1 cleavage at position A103 by the mitochondrial protease PARLEmma Deas, Helene Plun-Favreau, Sonia Gandhi, et al.Human Molecular Genetics|January 22, 2011
Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiencyUlrike Friedrich, Connie A Myers, Lars G Fritsche, et al.Human Molecular Genetics|January 11, 2011
Distinct DNA methylation changes highly correlated with chronological age in the human brainDena G Hernandez, Michael A Nalls, J Raphael Gibbs, et al.Human Molecular Genetics|October 12, 2010
Common CD36 SNPs reduce protein expression and may contribute to a protective atherogenic profileLatisha Love-Gregory, Richard Sherva, Timothy Schappe, et al.Pageof 1,195