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Your search keyword '"Marongiu, Michele"' showing total 4 results
Start Over Author "Marongiu, Michele" Journal nature genetics
4 results on '"Marongiu, Michele"'

1. Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Author

Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, and Cucca, Francesco

Published
2020
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2. Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Author

Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, and Cucca, Francesco

Published
2020
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3. Population- and individual-specific regulatory variation in Sardinia

Author

Pala, Mauro, primary, Zappala, Zachary, additional, Marongiu, Mara, additional, Li, Xin, additional, Davis, Joe R, additional, Cusano, Roberto, additional, Crobu, Francesca, additional, Kukurba, Kimberly R, additional, Gloudemans, Michael J, additional, Reinier, Frederic, additional, Berutti, Riccardo, additional, Piras, Maria G, additional, Mulas, Antonella, additional, Zoledziewska, Magdalena, additional, Marongiu, Michele, additional, Sorokin, Elena P, additional, Hess, Gaelen T, additional, Smith, Kevin S, additional, Busonero, Fabio, additional, Maschio, Andrea, additional, Steri, Maristella, additional, Sidore, Carlo, additional, Sanna, Serena, additional, Fiorillo, Edoardo, additional, Bassik, Michael C, additional, Sawcer, Stephen J, additional, Battle, Alexis, additional, Novembre, John, additional, Jones, Chris, additional, Angius, Andrea, additional, Abecasis, Gonçalo R, additional, Schlessinger, David, additional, Cucca, Francesco, additional, and Montgomery, Stephen B, additional

Published
2017
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4. Height-reducing variants and selection for short stature in Sardinia.

Author

Sidore, Carlo, Mulas, Antonella, Maschio, Andrea, Floris, Matteo, Soranzo, Nicole, Uzzau, Sergio, Angius, Andrea, Cucca, Francesco, Zoledziewska, Magdalena, Sanna, Serena, Steri, Maristella, Busonero, Fabio, Marongiu, Michele, Concas, Maria Pina, Murgia, Federico, Vaccargiu, Simona, Tachmazidou, Ioanna, Zeggini, Eleftheria, Dedoussis, George, and Jones, Chris

Subjects
SHORT stature, GENETIC carriers, LARON dwarfism, ALLELES
Abstract

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent in Sardinia (0.87% versus <0.01% elsewhere) and in the homozygous state causes Laron syndrome involving short stature. We find that this variant reduces height in heterozygotes by an average of 4.2 cm (−0.64 s.d.). The other variant, in the imprinted KCNQ1 gene (minor allele frequency (MAF) = 7.7% in Sardinia versus <1% elsewhere) reduces height by an average of 1.83 cm (−0.31 s.d.) when maternally inherited. Additionally, polygenic scores indicate that known height-decreasing alleles are at systematically higher frequencies in Sardinians than would be expected by genetic drift. The findings are consistent with selection for shorter stature in Sardinia and a suggestive human example of the proposed 'island effect' reducing the size of large mammals. [ABSTRACT FROM AUTHOR]

Published
2015
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