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Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.
Freudenberg-Hua Y, Li W, Abhyankar A, Vacic V, Cortes V, Ben-Avraham D, Koppel J, Greenwald B, Germer S; T2D-GENES Consortium; Darnell RB, Barzilai N, Freudenberg J, Atzmon G, Davies P. Freudenberg-Hua Y, et al. Hum Mol Genet. 2016 Jul 15;25(14):3096-3105. doi: 10.1093/hmg/ddw150. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260402 Free PMC article.
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.
Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM. Hillmer AM, et al. Am J Hum Genet. 2005 Jul;77(1):140-8. doi: 10.1086/431425. Epub 2005 May 18. Am J Hum Genet. 2005. PMID: 15902657 Free PMC article.
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder.
Cichon S, Winge I, Mattheisen M, Georgi A, Karpushova A, Freudenberg J, Freudenberg-Hua Y, Babadjanova G, Van Den Bogaert A, Abramova LI, Kapiletti S, Knappskog PM, McKinney J, Maier W, Jamra RA, Schulze TG, Schumacher J, Propping P, Rietschel M, Haavik J, Nöthen MM. Cichon S, et al. Hum Mol Genet. 2008 Jan 1;17(1):87-97. doi: 10.1093/hmg/ddm286. Epub 2007 Sep 27. Hum Mol Genet. 2008. PMID: 17905754
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y, Freudenberg J, Vacic V, Abhyankar A, Emde AK, Ben-Avraham D, Barzilai N, Oschwald D, Christen E, Koppel J, Greenwald B, Darnell RB, Germer S, Atzmon G, Davies P. Freudenberg-Hua Y, et al. Mol Genet Genomic Med. 2014 Sep;2(5):438-50. doi: 10.1002/mgg3.86. Epub 2014 Jun 15. Mol Genet Genomic Med. 2014. PMID: 25333069 Free PMC article.
24 results