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GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels.

Human molecular genetics

Gergei I, Zheng J, Andlauer TFM, Brandenburg V, Mirza-Schreiber N, Müller-Myhsok B, Krämer BK, Richard D, Falk L, Movérare-Skrtic S, Ohlsson C, Smith GD, März W, Voelkl J, Tobias JH.
PMID: 34542150
Hum Mol Genet. 2021 Sep 20; doi: 10.1093/hmg/ddab263. Epub 2021 Sep 20.

BACKGROUND: The protein α-Klotho acts as transmembrane the co-receptor for fibroblast growth factor 23 (FGF-23) and is a key regulator of phosphate homeostasis. However, α-Klotho also exists in a circulating form, with pleiotropic, but incompletely understood functions and regulation....

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Gergei I, Zheng J, Andlauer TFM, et al. GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels. Hum Mol Genet. 2021;doi: 10.1093/hmg/ddab263.
Gergei, I., Zheng, J., Andlauer, T. F. M., Brandenburg, V., Mirza-Schreiber, N., Müller-Myhsok, B., Krämer, B. K., Richard, D., Falk, L., Movérare-Skrtic, S., Ohlsson, C., Smith, G. D., März, W., Voelkl, J., & Tobias, J. H. (2021). GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels. Human molecular genetics, . https://doi.org/10.1093/hmg/ddab263
Gergei, Ingrid, et al. "GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels." Human molecular genetics vol. (2021). doi: https://doi.org/10.1093/hmg/ddab263
Gergei I, Zheng J, Andlauer TFM, Brandenburg V, Mirza-Schreiber N, Müller-Myhsok B, Krämer BK, Richard D, Falk L, Movérare-Skrtic S, Ohlsson C, Smith GD, März W, Voelkl J, Tobias JH. GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels. Hum Mol Genet. 2021 Sep 20; doi: 10.1093/hmg/ddab263. Epub 2021 Sep 20. PMID: 34542150.
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GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels.

Human molecular genetics

Gergei I, Zheng J, Andlauer TFM, Brandenburg V, Mirza-Schreiber N, Müller-Myhsok B, Krämer BK, Richard D, Falk L, Movérare-Skrtic S, Ohlsson C, Smith GD, März W, Voelkl J, Tobias JH.
PMID: 34542150
Hum Mol Genet. 2021 Sep 20; doi: 10.1093/hmg/ddab263. Epub 2021 Sep 20.

BACKGROUND: The protein α-Klotho acts as transmembrane the co-receptor for fibroblast growth factor 23 (FGF-23) and is a key regulator of phosphate homeostasis. However, α-Klotho also exists in a circulating form, with pleiotropic, but incompletely understood functions and regulation....

Cite
Gergei I, Zheng J, Andlauer TFM, et al. GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels. Hum Mol Genet. 2021;doi: 10.1093/hmg/ddab263.
Gergei, I., Zheng, J., Andlauer, T. F. M., Brandenburg, V., Mirza-Schreiber, N., Müller-Myhsok, B., Krämer, B. K., Richard, D., Falk, L., Movérare-Skrtic, S., Ohlsson, C., Smith, G. D., März, W., Voelkl, J., & Tobias, J. H. (2021). GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels. Human molecular genetics, . https://doi.org/10.1093/hmg/ddab263
Gergei, Ingrid, et al. "GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels." Human molecular genetics vol. (2021). doi: https://doi.org/10.1093/hmg/ddab263
Gergei I, Zheng J, Andlauer TFM, Brandenburg V, Mirza-Schreiber N, Müller-Myhsok B, Krämer BK, Richard D, Falk L, Movérare-Skrtic S, Ohlsson C, Smith GD, März W, Voelkl J, Tobias JH. GWAS META-analysis followed by MENDELIAN randomisation revealed potential control mechanisms for circulating α-klotho levels. Hum Mol Genet. 2021 Sep 20; doi: 10.1093/hmg/ddab263. Epub 2021 Sep 20. PMID: 34542150.
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Intronic elements associated with insomnia and restless legs syndrome exhibit cell type-specific epigenetic features contributing to MEIS1 regulation.

Human molecular genetics

Lam DD, Nikolic AA, Zhao C, Mirza-Schreiber N, Krężel W, Oexle K, Winkelmann J.
PMID: 34888668
Hum Mol Genet. 2021 Dec 09; doi: 10.1093/hmg/ddab355. Epub 2021 Dec 09.

A highly evolutionarily conserved MEIS1 intronic region is strongly associated with restless legs syndrome (RLS) and insomnia. To understand its regulatory function, we dissected the region by analyzing chromatin accessibility, enhancer-promoter contacts, DNA methylation, and eQTLs in different human...

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Lam DD, Nikolic AA, Zhao C, et al. Intronic elements associated with insomnia and restless legs syndrome exhibit cell type-specific epigenetic features contributing to MEIS1 regulation. Hum Mol Genet. 2021;doi: 10.1093/hmg/ddab355.
Lam, D. D., Nikolic, A. A., Zhao, C., Mirza-Schreiber, N., Krężel, W., Oexle, K., & Winkelmann, J. (2021). Intronic elements associated with insomnia and restless legs syndrome exhibit cell type-specific epigenetic features contributing to MEIS1 regulation. Human molecular genetics, . https://doi.org/10.1093/hmg/ddab355
Lam, Daniel D, et al. "Intronic elements associated with insomnia and restless legs syndrome exhibit cell type-specific epigenetic features contributing to MEIS1 regulation." Human molecular genetics vol. (2021). doi: https://doi.org/10.1093/hmg/ddab355
Lam DD, Nikolic AA, Zhao C, Mirza-Schreiber N, Krężel W, Oexle K, Winkelmann J. Intronic elements associated with insomnia and restless legs syndrome exhibit cell type-specific epigenetic features contributing to MEIS1 regulation. Hum Mol Genet. 2021 Dec 09; doi: 10.1093/hmg/ddab355. Epub 2021 Dec 09. PMID: 34888668.
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Cis-epistasis at the LPA locus and risk of cardiovascular diseases.

Cardiovascular research

Zeng L, Moser S, Mirza-Schreiber N, Lamina C, Coassin S, Nelson CP, Annilo T, Franzén O, Kleber ME, Mack S, Andlauer TFM, Jiang B, Stiller B, Li L, Willenborg C, Munz M, Kessler T, Kastrati A, Laugwitz KL, Erdmann J, Moebus S, NöThen MM, Peters A, Strauch K, MüLler-Nurasyid M, Gieger C, Meitinger T, Steinhagen-Thiessen E, MäRz W, Metspalu A, BjöRkegren JLM, Samani NJ, Kronenberg F, MüLler-Myhsok B, Schunkert H.
PMID: 33878186
Cardiovasc Res. 2021 Apr 20; doi: 10.1093/cvr/cvab136. Epub 2021 Apr 20.

AIMS: Coronary artery disease (CAD) has a strong genetic predisposition. However, despite substantial discoveries made by genome-wide association studies (GWAS), a large proportion of heritability awaits identification. Non-additive genetic-effects might be responsible for part of the unaccounted genetic variance....

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Zeng L, Moser S, Mirza-Schreiber N, et al. Cis-epistasis at the LPA locus and risk of cardiovascular diseases. Cardiovasc Res. 2021;doi: 10.1093/cvr/cvab136.
Zeng, L., Moser, S., Mirza-Schreiber, N., Lamina, C., Coassin, S., Nelson, C. P., Annilo, T., Franzén, O., Kleber, M. E., Mack, S., Andlauer, T. F. M., Jiang, B., Stiller, B., Li, L., Willenborg, C., Munz, M., Kessler, T., Kastrati, A., Laugwitz, K. L., Erdmann, J., Moebus, S., NöThen, M. M., Peters, A., Strauch, K., MüLler-Nurasyid, M., Gieger, C., Meitinger, T., Steinhagen-Thiessen, E., MäRz, W., Metspalu, A., BjöRkegren, J. L. M., Samani, N. J., Kronenberg, F., MüLler-Myhsok, B., & Schunkert, H. (2021). Cis-epistasis at the LPA locus and risk of cardiovascular diseases. Cardiovascular research, . https://doi.org/10.1093/cvr/cvab136
Zeng, Lingyao, et al. "Cis-epistasis at the LPA locus and risk of cardiovascular diseases." Cardiovascular research vol. (2021). doi: https://doi.org/10.1093/cvr/cvab136
Zeng L, Moser S, Mirza-Schreiber N, Lamina C, Coassin S, Nelson CP, Annilo T, Franzén O, Kleber ME, Mack S, Andlauer TFM, Jiang B, Stiller B, Li L, Willenborg C, Munz M, Kessler T, Kastrati A, Laugwitz KL, Erdmann J, Moebus S, NöThen MM, Peters A, Strauch K, MüLler-Nurasyid M, Gieger C, Meitinger T, Steinhagen-Thiessen E, MäRz W, Metspalu A, BjöRkegren JLM, Samani NJ, Kronenberg F, MüLler-Myhsok B, Schunkert H. Cis-epistasis at the LPA locus and risk of cardiovascular diseases. Cardiovasc Res. 2021 Apr 20; doi: 10.1093/cvr/cvab136. Epub 2021 Apr 20. PMID: 33878186.
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Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.

Molecular psychiatry

Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, Pourcain BS, Honbolygó F, Tóth D, Csépe V, Huguet G, Chaix Y, Iannuzzi S, Demonet JF, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M, Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke A, Kirsten H, Müller B, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS, Paracchini S, Fisher SE, Schumacher J, Nöthen MM, Müller-Myhsok B, Schulte-Körne G.
PMID: 33057169
Mol Psychiatry. 2021 Jul;26(7):3004-3017. doi: 10.1038/s41380-020-00898-x. Epub 2020 Oct 14.

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40-60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the...

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Gialluisi A, Andlauer TFM, Mirza-Schreiber N, et al. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. Mol Psychiatry. 2020;26(7):3004-3017doi: 10.1038/s41380-020-00898-x.
Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., Pourcain, B. S., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Chaix, Y., Iannuzzi, S., Demonet, J. F., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D., Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Kirsten, H., Müller, B., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B., & Schulte-Körne, G. (2021). Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. Molecular psychiatry, 26(7), 3004-3017. https://doi.org/10.1038/s41380-020-00898-x
Gialluisi, Alessandro, et al. "Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia." Molecular psychiatry vol. 26,7 (2021): 3004-3017. doi: https://doi.org/10.1038/s41380-020-00898-x
Gialluisi A, Andlauer TFM, Mirza-Schreiber N, Moll K, Becker J, Hoffmann P, Ludwig KU, Czamara D, Pourcain BS, Honbolygó F, Tóth D, Csépe V, Huguet G, Chaix Y, Iannuzzi S, Demonet JF, Morris AP, Hulslander J, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Vaessen A, Maurer U, Lyytinen H, Peyrard-Janvid M, Leppänen PHT, Brandeis D, Bonte M, Stein JF, Talcott JB, Fauchereau F, Wilcke A, Kirsten H, Müller B, Francks C, Bourgeron T, Monaco AP, Ramus F, Landerl K, Kere J, Scerri TS, Paracchini S, Fisher SE, Schumacher J, Nöthen MM, Müller-Myhsok B, Schulte-Körne G. Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. Mol Psychiatry. 2021 Jul;26(7):3004-3017. doi: 10.1038/s41380-020-00898-x. Epub 2020 Oct 14. PMID: 33057169; PMCID: PMC8505236.
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Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Brain : a journal of neurology

Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K.
PMID: 34590685
Brain. 2021 Sep 30; doi: 10.1093/brain/awab360. Epub 2021 Sep 30.

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is reported for histone lysine methyltransferase (KMT2B)-deficient dystonia, a leading subtype among the individually rare monogenic dystonias. It...

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Mirza-Schreiber N, Zech M, Wilson R, et al. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain. 2021;doi: 10.1093/brain/awab360.
Mirza-Schreiber, N., Zech, M., Wilson, R., Brunet, T., Wagner, M., Jech, R., Boesch, S., Škorvánek, M., Necpál, J., Weise, D., Weber, S., Mollenhauer, B., Trenkwalder, C., Maier, E. M., Borggraefe, I., Vill, K., Hackenberg, A., Pilshofer, V., Kotzaeridou, U., Schwaibold, E. M. C., Hoefele, J., Waldenberger, M., Gieger, C., Peters, A., Meitinger, T., Schormair, B., Winkelmann, J., & Oexle, K. (2021). Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain : a journal of neurology, . https://doi.org/10.1093/brain/awab360
Mirza-Schreiber, Nazanin, et al. "Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset." Brain : a journal of neurology vol. (2021). doi: https://doi.org/10.1093/brain/awab360
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain. 2021 Sep 30; doi: 10.1093/brain/awab360. Epub 2021 Sep 30. PMID: 34590685.
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