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Träfflista för sökning "WFRF:(Zygmunt S C) srt2:(2015-2019)"

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1.	Day, FR, et al. (author) Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk 2017 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:6, s. 834- Journal article (peer-reviewed)
2.	Day, FR, et al. (author) Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair EDITORIAL COMMENT 2015 In: OBSTETRICAL & GYNECOLOGICAL SURVEY. - : Ovid Technologies (Wolters Kluwer Health). - 0029-7828. ; 70:12, s. 758-762 Journal article (other academic/artistic)
3.	Day, FR, et al. (author) Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair 2015 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:11, s. 1294- Journal article (peer-reviewed)
4.	Lunetta, Kathryn L., et al. (author) Rare coding variants and X-linked loci associated with age at menarche 2015 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6 Journal article (peer-reviewed)abstract More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P<5 x 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P = 9.4 x 10(-13)) and FAAH2 (rs5914101, P = 4.9 x 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P = 2.8 x 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain similar to 0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.

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Type of publication: journal article (4)

Type of content: peer-reviewed (3); other academic/artistic (1)

Author/Editor: Hottenga, JJ (3); Willemsen, G (3); Benitez, J. (3); Brenner, H (3); Langenberg, C. (3); Tanaka, T. (3); show more...; Boomsma, DI (3); Dennis, J (3); Wang, Q. (3); Hall, P (3); Czene, K (3); Giles, GG (3); Milne, RL (3); Alizadeh, BZ (3); Albrecht, E (3); Smith, AV (3); Teumer, A (3); Ferrucci, L (3); Gudnason, V (3); Montgomery, GW (3); Uitterlinden, AG (3); Volzke, H (3); Martin, NG (3); Michailidou, K (3); Bolla, MK (3); Hopper, JL (3); Southey, MC (3); Brauch, H (3); Bruning, T (3); Hamann, U (3); Dunning, AM (3); Andrulis, IL (3); Schmidt, MK (3); Fasching, PA (3); Beckmann, MW (3); Cox, A (3); Radice, P (3); Couch, FJ (3); Peto, J (3); Guenel, P (3); Truong, T (3); Bojesen, SE (3); Mannermaa, A (3); Lambrechts, D (3); Chang-Claude, J (3); Flesch-Janys, D (3); Winqvist, R (3); Devilee, P (3); Hooning, MJ (3); Nevanlinna, H (3); show less...

University: Karolinska Institutet (3); Umeå University (1); Lund University (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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