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Human genetics of leishmania infections.
Identifying genetic risk factors for parasitic infections such as the leishmaniases could provide important leads for improved therapies and vaccines. Until recently most genetic studies of human leishmaniasis were underpowered...
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Multi-omic analysis elucidates the genetic basis of hydrocephalus.
We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p < 0.05) with hydrocephalus....
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Palaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers.
Cosimo Posth, He Yu, Ayshin Ghalichi, Hélène Rougier, Isabelle Crevecoeur, Yilei Huang, Harald Ringbauer, Adam B Rohrlach, Kathrin Nägele, Vanessa Villalba-Mouco, Rita Radzeviciute, Tiago Ferraz, Alexander Stoessel, Rezeda Tukhbatova, Dorothée G Drucker, Martina Lari, Alessandra Modi, Stefania Vai, Tina Saupe, Christiana L Scheib, Giulio Catalano, Luca Pagani, Sahra Talamo, Helen Fewlass, Laurent Klaric, André Morala, Mathieu Rué, Stéphane Madelaine, Laurent Crépin, Jean-Baptiste Caverne, Emmy Bocaege, Stefano Ricci, Francesco Boschin, Priscilla Bayle, Bruno Maureille, Foni Le Brun-Ricalens, Jean-Guillaume Bordes, Gregorio Oxilia, Eugenio Bortolini, Olivier Bignon-Lau, Grégory Debout, Michel Orliac, Antoine Zazzo, Vitale Sparacello, Elisabetta Starnini, Luca Sineo, Johannes van der Plicht, Laure Pecqueur, Gildas Merceron, Géraldine Garcia, Jean-Michel Leuvrey, Coralie Bay Garcia, Asier Gómez-Olivencia, Marta Połtowicz-Bobak, Dariusz Bobak, Mona Le Luyer, Paul Storm, Claudia Hoffmann, Jacek Kabaciński, Tatiana Filimonova, Svetlana Shnaider, Natalia Berezina, Borja González-Rabanal, Manuel R González Morales, Ana B Marín-Arroyo, Belén López, Carmen Alonso-Llamazares, Annamaria Ronchitelli, Caroline Polet, Ivan Jadin, Nicolas Cauwe, Joaquim Soler, Neus Coromina, Isaac Rufí, Richard Cottiaux, Geoffrey Clark, Lawrence G Straus, Marie-Anne Julien, Silvia Renhart, Dorothea Talaa, Stefano Benazzi, Matteo Romandini, Luc Amkreutz, Hervé Bocherens, Christoph Wißing, Sébastien Villotte, Javier Fernández-López de Pablo, Magdalena Gómez-Puche, Marco Aurelio Esquembre-Bebia, Pierre Bodu, Liesbeth Smits, Bénédicte Souffi, Rimantas Jankauskas, Justina Kozakaitė, Christophe Cupillard, Hartmut Benthien, Kurt Wehrberger, Ralf W Schmitz, Susanne C Feine, Tim Schüler, Corinne Thevenet, Dan Grigorescu, Friedrich Lüth, Andreas Kotula, Henny Piezonka, Franz Schopper, Jiří Svoboda, Sandra Sázelová, Andrey Chizhevsky, Aleksandr Khokhlov, Nicholas J Conard, Frédérique Valentin, Katerina Harvati, Patrick Semal, Bettina Jungklaus, Alexander Suvorov, Rick Schulting, Vyacheslav Moiseyev, Kristiina Mannermaa, Alexandra Buzhilova, Thomas Terberger, David Caramelli, Eveline Altena, Wolfgang Haak, Johannes Krause
Mar 02, 2023
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Mapping human development at single-cell resolution.
Human development is regulated by spatiotemporally restricted molecular programmes and is pertinent to many areas of basic biology and human medicine, such as stem cell biology, reproductive medicine and childhood cancer....
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Associations of genetically predicted IL-6 signaling with cardiovascular disease risk across population subgroups.
BACKGROUND: Interleukin 6 (IL-6) signaling is being investigated as a therapeutic target for atherosclerotic cardiovascular disease (CVD). While changes in circulating high-sensitivity C-reactive protein (hsCRP) are used as a...
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New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry.
Body-mass index (BMI) is a hallmark of adiposity. In contrast with adulthood, the genetic architecture of BMI during childhood is poorly understood. The few genome-wide association studies (GWAS) on children have been performed...
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Palaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers.
Cosimo Posth, He Yu, Ayshin Ghalichi, Hélène Rougier, Isabelle Crevecoeur, Yilei Huang, Harald Ringbauer, Adam B Rohrlach, Kathrin Nägele, Vanessa Villalba-Mouco, Rita Radzeviciute, Tiago Ferraz, Alexander Stoessel, Rezeda Tukhbatova, Dorothée G Drucker, Martina Lari, Alessandra Modi, Stefania Vai, Tina Saupe, Christiana L Scheib, Giulio Catalano, Luca Pagani, Sahra Talamo, Helen Fewlass, Laurent Klaric, André Morala, Mathieu Rué, Stéphane Madelaine, Laurent Crépin, Jean-Baptiste Caverne, Emmy Bocaege, Stefano Ricci, Francesco Boschin, Priscilla Bayle, Bruno Maureille, Foni Le Brun-Ricalens, Jean-Guillaume Bordes, Gregorio Oxilia, Eugenio Bortolini, Olivier Bignon-Lau, Grégory Debout, Michel Orliac, Antoine Zazzo, Vitale Sparacello, Elisabetta Starnini, Luca Sineo, Johannes van der Plicht, Laure Pecqueur, Gildas Merceron, Géraldine Garcia, Jean-Michel Leuvrey, Coralie Bay Garcia, Asier Gómez-Olivencia, Marta Połtowicz-Bobak, Dariusz Bobak, Mona Le Luyer, Paul Storm, Claudia Hoffmann, Jacek Kabaciński, Tatiana Filimonova, Svetlana Shnaider, Natalia Berezina, Borja González-Rabanal, Manuel R González Morales, Ana B Marín-Arroyo, Belén López, Carmen Alonso-Llamazares, Annamaria Ronchitelli, Caroline Polet, Ivan Jadin, Nicolas Cauwe, Joaquim Soler, Neus Coromina, Isaac Rufí, Richard Cottiaux, Geoffrey Clark, Lawrence G Straus, Marie-Anne Julien, Silvia Renhart, Dorothea Talaa, Stefano Benazzi, Matteo Romandini, Luc Amkreutz, Hervé Bocherens, Christoph Wißing, Sébastien Villotte, Javier Fernández-López de Pablo, Magdalena Gómez-Puche, Marco Aurelio Esquembre-Bebia, Pierre Bodu, Liesbeth Smits, Bénédicte Souffi, Rimantas Jankauskas, Justina Kozakaitė, Christophe Cupillard, Hartmut Benthien, Kurt Wehrberger, Ralf W Schmitz, Susanne C Feine, Tim Schüler, Corinne Thevenet, Dan Grigorescu, Friedrich Lüth, Andreas Kotula, Henny Piezonka, Franz Schopper, Jiří Svoboda, Sandra Sázelová, Andrey Chizhevsky, Aleksandr Khokhlov, Nicholas J Conard, Frédérique Valentin, Katerina Harvati, Patrick Semal, Bettina Jungklaus, Alexander Suvorov, Rick Schulting, Vyacheslav Moiseyev, Kristiina Mannermaa, Alexandra Buzhilova, Thomas Terberger, David Caramelli, Eveline Altena, Wolfgang Haak, Johannes Krause
Apr 01, 2023
Modern humans have populated Europe for more than 45,000 years1,2. Our knowledge of the genetic relatedness and structure of ancient hunter-gatherers is however limited, owing to the scarceness and poor molecular...
Published by: Nature
Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin.
Knowledge of genetic cause in neurodevelopmental disorders can highlight molecular and cellular processes critical for typical development. Furthermore, the relative homogeneity of neurodevelopmental disorders of known genetic...
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Flanking heterozygosity influences the relative probability of different base substitutions in humans.
William Amos
Nov 26, 2019
Understanding when, where and which mutations are mostly likely to occur impacts many areas of evolutionary biology, from genetic diseases to phylogenetic reconstruction. Africans and non-African humans differ in the mutability...
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GENES AND DISEASE
Centennial Symposium Genes and Disease: Opportunities for Human Genetics in Modern Medicine