@article{VolckmarHanPuetteretal.2016,
  author    = {Volckmar, Anna-Lena and Han, Chung Ting and P{\"u}tter, Carolin and Haas, Stefan and Vogel, Carla I. G. and Knoll, Nadja and Struve, Christoph and G{\"o}bel, Maria and Haas, Katharina and Herrfurth, Nikolas and Jarick, Ivonne and Grallert, Harald and Sch{\"u}rmann, Annette and Al-Hasani, Hadi and Hebebrand, Johannes and Sauer, Sascha and Hinney, Anke},
  title     = {Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing},
  series = {PLoS ONE},
  volume    = {11},
  journal   = {PLoS ONE},
  number    = {2},
  doi       = {10.1371/journal.pone.0147904},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-167274},
  pages     = {e0147904},
  year      = {2016},
  abstract  = {Introduction Genes involved in body weight regulation that were previously investigated in genome-wide association studies (GWAS) and in animal models were target-enriched followed by massive parallel next generation sequencing. Methods We enriched and re-sequenced continuous genomic regions comprising FTO, MC4R, TMEM18, SDCCAG8, TKNS, MSRA and TBC1D1 in a screening sample of 196 extremely obese children and adolescents with age and sex specific body mass index (BMI) ≥ 99th percentile and 176 lean adults (BMI ≤ 15th percentile). 22 variants were confirmed by Sanger sequencing. Genotyping was performed in up to 705 independent obesity trios (extremely obese child and both parents), 243 extremely obese cases and 261 lean adults. Results and Conclusion We detected 20 different non-synonymous variants, one frame shift and one nonsense mutation in the 7 continuous genomic regions in study groups of different weight extremes. For SNP Arg695Cys (rs58983546) in TBC1D1 we detected nominal association with obesity (pTDT = 0.03 in 705 trios). Eleven of the variants were rare, thus were only detected heterozygously in up to ten individual(s) of the complete screening sample of 372 individuals. Two of them (in FTO and MSRA) were found in lean individuals, nine in extremely obese. In silico analyses of the 11 variants did not reveal functional implications for the mutations. Concordant with our hypothesis we detected a rare variant that potentially leads to loss of FTO function in a lean individual. For TBC1D1, in contrary to our hypothesis, the loss of function variant (Arg443Stop) was found in an obese individual. Functional in vitro studies are warranted.},
  language  = {en}
}
@article{ChubanovFerioliWisnowskyetal.2016,
  author    = {Chubanov, Vladimir and Ferioli, Silvia and Wisnowsky, Annika and Simmons, David G. and Leitzinger, Christin and Einer, Claudia and Jonas, Wenke and Shymkiv, Yuriy and Gudermann, Thomas and Bartsch, Harald and Braun, Attila and Akdogan, Banu and Mittermeier, Lorenz and Sytik, Ludmila and Torben, Friedrich and Jurinovic, Vindi and van der Vorst, Emiel P. C. and Weber, Christian and Yildirim, {\"O}nder A. and Sotlar, Karl and Sch{\"u}rmann, Annette and Zierler, Susanna and Zischka, Hans and Ryazanov, Alexey G.},
  title     = {Epithelial magnesium transport by TRPM6 is essential for prenatal development and adult survival},
  series = {eLife},
  volume    = {5},
  journal   = {eLife},
  doi       = {10.7554/eLife.20914},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-164987},
  pages     = {e19686},
  year      = {2016},
  abstract  = {Mg2+ regulates many physiological processes and signalling pathways. However, little is known about the mechanisms underlying the organismal balance of Mg2+. Capitalizing on a set of newly generated mouse models, we provide an integrated mechanistic model of the regulation of organismal Mg2+ balance during prenatal development and in adult mice by the ion channel TRPM6. We show that TRPM6 activity in the placenta and yolk sac is essential for embryonic development. In adult mice, TRPM6 is required in the intestine to maintain organismal Mg2+ balance, but is dispensable in the kidney. Trpm6 inactivation in adult mice leads to a shortened lifespan, growth deficit and metabolic alterations indicative of impaired energy balance. Dietary Mg2+ supplementation not only rescues all phenotypes displayed by Trpm6-deficient adult mice, but also may extend the lifespan of wildtype mice. Hence, maintenance of organismal Mg2+ balance by TRPM6 is crucial for prenatal development and survival to adulthood.},
  language  = {en}
}