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Your search keyword '"Gustafsson, P. A."' showing total 84 results
Start Over Author "Gustafsson, P. A." Journal nature communications
84 results on '"Gustafsson, P. A."'

1. Aging is associated with functional and molecular changes in distinct hematopoietic stem cell subsets

Author

Tsu-Yi Su, Julia Hauenstein, Ece Somuncular, Özge Dumral, Elory Leonard, Charlotte Gustafsson, Efthymios Tzortzis, Aurora Forlani, Anne-Sofie Johansson, Hong Qian, Robert Månsson, and Sidinh Luc

Subjects
Science
Abstract

Abstract Age is a risk factor for hematologic malignancies. Attributes of the aging hematopoietic system include increased myelopoiesis, impaired adaptive immunity, and a functional decline of the hematopoietic stem cells (HSCs) that maintain hematopoiesis. Changes in the composition of diverse HSC subsets have been suggested to be responsible for age-related alterations, however, the underlying regulatory mechanisms are incompletely understood in the context of HSC heterogeneity. In this study, we investigated how distinct HSC subsets, separated by CD49b, functionally and molecularly change their behavior with age. We demonstrate that the lineage differentiation of both lymphoid-biased and myeloid-biased HSC subsets progressively shifts to a higher myeloid cellular output during aging. In parallel, we show that HSCs selectively undergo age-dependent gene expression and gene regulatory changes in a progressive manner, which is initiated already in the juvenile stage. Overall, our studies suggest that aging intrinsically alters both cellular and molecular properties of HSCs.

Published
2024
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2. Adipose stem cells are sexually dimorphic cells with dual roles as preadipocytes and resident fibroblasts

Author

Martin Uhrbom, Lars Muhl, Guillem Genové, Jianping Liu, Henrik Palmgren, Ida Alexandersson, Fredrik Karlsson, Alex-Xianghua Zhou, Sandra Lunnerdal, Sonja Gustafsson, Byambajav Buyandelger, Kasparas Petkevicius, Ingela Ahlstedt, Daniel Karlsson, Leif Aasehaug, Liqun He, Marie Jeansson, Christer Betsholtz, and Xiao-Rong Peng

Subjects
Science
Abstract

Abstract Cell identities are defined by intrinsic transcriptional networks and spatio-temporal environmental factors. Here, we explored multiple factors that contribute to the identity of adipose stem cells, including anatomic location, microvascular neighborhood, and sex. Our data suggest that adipose stem cells serve a dual role as adipocyte precursors and fibroblast-like cells that shape the adipose tissue’s extracellular matrix in an organotypic manner. We further find that adipose stem cells display sexual dimorphism regarding genes involved in estrogen signaling, homeobox transcription factor expression and the renin-angiotensin-aldosterone system. These differences could be attributed to sex hormone effects, developmental origin, or both. Finally, our data demonstrate that adipose stem cells are distinct from mural cells, and that the state of commitment to adipogenic differentiation is linked to their anatomic position in the microvascular niche. Our work supports the importance of sex and microvascular function in adipose tissue physiology.

Published
2024
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3. Mitochondria are secreted in extracellular vesicles when lysosomal function is impaired.

Author

Liang, Wenjing, Sagar, Shakti, Ravindran, Rishith, Najor, Rita, Quiles, Justin, Chi, Liguo, Diao, Rachel, Woodall, Benjamin, Leon, Leonardo, Zumaya, Erika, Duran, Jason, Cauvi, David, De Maio, Antonio, Adler, Eric, and Gustafsson, Åsa

Subjects
Animals, Mice, Lysosomes, Mitochondria, Biological Transport, Extracellular Vesicles, Multivesicular Bodies
Abstract

Mitochondrial quality control is critical for cardiac homeostasis as these organelles are responsible for generating most of the energy needed to sustain contraction. Dysfunctional mitochondria are normally degraded via intracellular degradation pathways that converge on the lysosome. Here, we identified an alternative mechanism to eliminate mitochondria when lysosomal function is compromised. We show that lysosomal inhibition leads to increased secretion of mitochondria in large extracellular vesicles (EVs). The EVs are produced in multivesicular bodies, and their release is independent of autophagy. Deletion of the small GTPase Rab7 in cells or adult mouse heart leads to increased secretion of EVs containing ubiquitinated cargos, including intact mitochondria. The secreted EVs are captured by macrophages without activating inflammation. Hearts from aged mice or Danon disease patients have increased levels of secreted EVs containing mitochondria indicating activation of vesicular release during cardiac pathophysiology. Overall, these findings establish that mitochondria are eliminated in large EVs through the endosomal pathway when lysosomal degradation is inhibited.

Published
2023

5. Adipose stem cells are sexually dimorphic cells with dual roles as preadipocytes and resident fibroblasts

Author

Uhrbom, Martin, Muhl, Lars, Genové, Guillem, Liu, Jianping, Palmgren, Henrik, Alexandersson, Ida, Karlsson, Fredrik, Zhou, Alex-Xianghua, Lunnerdal, Sandra, Gustafsson, Sonja, Buyandelger, Byambajav, Petkevicius, Kasparas, Ahlstedt, Ingela, Karlsson, Daniel, Aasehaug, Leif, He, Liqun, Jeansson, Marie, Betsholtz, Christer, and Peng, Xiao-Rong

Published
2024
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6. A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis

Author

Pahlevan Kakhki, Majid, Giordano, Antonino, Starvaggi Cucuzza, Chiara, Venkata S. Badam, Tejaswi, Samudyata, Samudyata, Lemée, Marianne Victoria, Stridh, Pernilla, Gkogka, Asimenia, Shchetynsky, Klementy, Harroud, Adil, Gyllenberg, Alexandra, Liu, Yun, Boddul, Sanjaykumar, James, Tojo, Sorosina, Melissa, Filippi, Massimo, Esposito, Federica, Wermeling, Fredrik, Gustafsson, Mika, Casaccia, Patrizia, Hillert, Jan, Olsson, Tomas, Kockum, Ingrid, Sellgren, Carl M., Golzio, Christelle, Kular, Lara, and Jagodic, Maja

Published
2024
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9. A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis

Author

Majid Pahlevan Kakhki, Antonino Giordano, Chiara Starvaggi Cucuzza, Tejaswi Venkata S. Badam, Samudyata Samudyata, Marianne Victoria Lemée, Pernilla Stridh, Asimenia Gkogka, Klementy Shchetynsky, Adil Harroud, Alexandra Gyllenberg, Yun Liu, Sanjaykumar Boddul, Tojo James, Melissa Sorosina, Massimo Filippi, Federica Esposito, Fredrik Wermeling, Mika Gustafsson, Patrizia Casaccia, Jan Hillert, Tomas Olsson, Ingrid Kockum, Carl M. Sellgren, Christelle Golzio, Lara Kular, and Maja Jagodic

Subjects
Science
Abstract

Abstract Multiple Sclerosis (MS) is a heterogeneous inflammatory and neurodegenerative disease with an unpredictable course towards progressive disability. Treating progressive MS is challenging due to limited insights into the underlying mechanisms. We examined the molecular changes associated with primary progressive MS (PPMS) using a cross-tissue (blood and post-mortem brain) and multilayered data (genetic, epigenetic, transcriptomic) from independent cohorts. In PPMS, we found hypermethylation of the 1q21.1 locus, controlled by PPMS-specific genetic variations and influencing the expression of proximal genes (CHD1L, PRKAB2) in the brain. Evidence from reporter assay and CRISPR/dCas9 experiments supports a causal link between methylation and expression and correlation network analysis further implicates these genes in PPMS brain processes. Knock-down of CHD1L in human iPSC-derived neurons and knock-out of chd1l in zebrafish led to developmental and functional deficits of neurons. Thus, several lines of evidence suggest a distinct genetic-epigenetic-transcriptional interplay in the 1q21.1 locus potentially contributing to PPMS pathogenesis.

Published
2024
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10. Projected loss of brown macroalgae and seagrasses with global environmental change

Author

Federica Manca, Lisandro Benedetti-Cecchi, Corey J. A. Bradshaw, Mar Cabeza, Camilla Gustafsson, Alf M. Norkko, Tomas V. Roslin, David N. Thomas, Lydia White, and Giovanni Strona

Subjects
Science
Abstract

Abstract Although many studies predict extensive future biodiversity loss and redistribution in the terrestrial realm, future changes in marine biodiversity remain relatively unexplored. In this work, we model global shifts in one of the most important marine functional groups—ecosystem-structuring macrophytes—and predict substantial end-of-century change. By modelling the future distribution of 207 brown macroalgae and seagrass species at high temporal and spatial resolution under different climate-change projections, we estimate that by 2100, local macrophyte diversity will decline by 3–4% on average, with 17 to 22% of localities losing at least 10% of their macrophyte species. The current range of macrophytes will be eroded by 5–6%, and highly suitable macrophyte habitat will be substantially reduced globally (78–96%). Global macrophyte habitat will shift among marine regions, with a high potential for expansion in polar regions.

Published
2024
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11. Structural conversion of the spidroin C-terminal domain during assembly of spider silk fibers

Author

Danilo Hirabae De Oliveira, Vasantha Gowda, Tobias Sparrman, Linnea Gustafsson, Rodrigo Sanches Pires, Christian Riekel, Andreas Barth, Christofer Lendel, and My Hedhammar

Subjects
Science
Abstract

Abstract The major ampullate Spidroin 1 (MaSp1) is the main protein of the dragline spider silk. The C-terminal (CT) domain of MaSp1 is crucial for the self-assembly into fibers but the details of how it contributes to the fiber formation remain unsolved. Here we exploit the fact that the CT domain can form silk-like fibers by itself to gain knowledge about this transition. Structural investigations of fibers from recombinantly produced CT domain from E. australis MaSp1 reveal an α-helix to β-sheet transition upon fiber formation and highlight the helix No4 segment as most likely to initiate the structural conversion. This prediction is corroborated by the finding that a peptide corresponding to helix No4 has the ability of pH-induced conversion into β-sheets and self-assembly into nanofibrils. Our results provide structural information about the CT domain in fiber form and clues about its role in triggering the structural conversion of spidroins during fiber assembly.

Published
2024
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12. Omicron infection following vaccination enhances a broad spectrum of immune responses dependent on infection history

Author

Hornsby, Hailey, Nicols, Alexander R., Longet, Stephanie, Liu, Chang, Tomic, Adriana, Angyal, Adrienn, Kronsteiner, Barbara, Tyerman, Jessica K., Tipton, Tom, Zhang, Peijun, Gallis, Marta, Supasa, Piyada, Selvaraj, Muneeswaran, Abraham, Priyanka, Neale, Isabel, Ali, Mohammad, Barratt, Natalie A., Nell, Jeremy M., Gustafsson, Lotta, Strickland, Scarlett, Grouneva, Irina, Rostron, Timothy, Moore, Shona C., Hering, Luisa M., Dobson, Susan L., Bibi, Sagida, Mongkolsapaya, Juthathip, Lambe, Teresa, Wootton, Dan, Hall, Victoria, Hopkins, Susan, Dong, Tao, Barnes, Eleanor, Screaton, Gavin, Richter, Alex, Turtle, Lance, Rowland-Jones, Sarah L., Carroll, Miles, Duncan, Christopher J. A., Klenerman, Paul, Dunachie, Susanna J., Payne, Rebecca P., and de Silva, Thushan I.

Published
2023
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14. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Author

Van Haute, Lindsey, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J., Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A., Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S., Ziegler, Alban, Thorburn, David R., Stroud, David A., Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, and Horvath, Rita

Published
2023
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15. Proteomics reveal biomarkers for diagnosis, disease activity and long-term disability outcomes in multiple sclerosis

Author

Julia Åkesson, Sara Hojjati, Sandra Hellberg, Johanna Raffetseder, Mohsen Khademi, Robert Rynkowski, Ingrid Kockum, Claudio Altafini, Zelmina Lubovac-Pilav, Johan Mellergård, Maria C. Jenmalm, Fredrik Piehl, Tomas Olsson, Jan Ernerudh, and Mika Gustafsson

Subjects
Science
Abstract

Abstract Sensitive and reliable protein biomarkers are needed to predict disease trajectory and personalize treatment strategies for multiple sclerosis (MS). Here, we use the highly sensitive proximity-extension assay combined with next-generation sequencing (Olink Explore) to quantify 1463 proteins in cerebrospinal fluid (CSF) and plasma from 143 people with early-stage MS and 43 healthy controls. With longitudinally followed discovery and replication cohorts, we identify CSF proteins that consistently predicted both short- and long-term disease progression. Lower levels of neurofilament light chain (NfL) in CSF is superior in predicting the absence of disease activity two years after sampling (replication AUC = 0.77) compared to all other tested proteins. Importantly, we also identify a combination of 11 CSF proteins (CXCL13, LTA, FCN2, ICAM3, LY9, SLAMF7, TYMP, CHI3L1, FYB1, TNFRSF1B and NfL) that predict the severity of disability worsening according to the normalized age-related MS severity score (replication AUC = 0.90). The identification of these proteins may help elucidate pathogenetic processes and might aid decisions on treatment strategies for persons with MS.

Published
2023
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16. Omicron infection following vaccination enhances a broad spectrum of immune responses dependent on infection history

Author

Hailey Hornsby, Alexander R. Nicols, Stephanie Longet, Chang Liu, Adriana Tomic, Adrienn Angyal, Barbara Kronsteiner, Jessica K. Tyerman, Tom Tipton, Peijun Zhang, Marta Gallis, Piyada Supasa, Muneeswaran Selvaraj, Priyanka Abraham, Isabel Neale, Mohammad Ali, Natalie A. Barratt, Jeremy M. Nell, Lotta Gustafsson, Scarlett Strickland, Irina Grouneva, Timothy Rostron, Shona C. Moore, Luisa M. Hering, Susan L. Dobson, Sagida Bibi, Juthathip Mongkolsapaya, Teresa Lambe, Dan Wootton, Victoria Hall, Susan Hopkins, Tao Dong, Eleanor Barnes, Gavin Screaton, The PITCH Consortium, Alex Richter, Lance Turtle, Sarah L. Rowland-Jones, Miles Carroll, Christopher J. A. Duncan, Paul Klenerman, Susanna J. Dunachie, Rebecca P. Payne, and Thushan I. de Silva

Subjects
Science
Abstract

Abstract Pronounced immune escape by the SARS-CoV-2 Omicron variant has resulted in many individuals possessing hybrid immunity, generated through a combination of vaccination and infection. Concerns have been raised that omicron breakthrough infections in triple-vaccinated individuals result in poor induction of omicron-specific immunity, and that prior SARS-CoV-2 infection is associated with immune dampening. Taking a broad and comprehensive approach, we characterize mucosal and blood immunity to spike and non-spike antigens following BA.1/BA.2 infections in triple mRNA-vaccinated individuals, with and without prior SARS-CoV-2 infection. We find that most individuals increase BA.1/BA.2/BA.5-specific neutralizing antibodies following infection, but confirm that the magnitude of increase and post-omicron titres are higher in the infection-naive. In contrast, significant increases in nasal responses, including neutralizing activity against BA.5 spike, are seen regardless of infection history. Spike-specific T cells increase only in infection-naive vaccinees; however, post-omicron T cell responses are significantly higher in the previously-infected, who display a maximally induced response with a highly cytotoxic CD8+ phenotype following their 3rd mRNA vaccine dose. Responses to non-spike antigens increase significantly regardless of prior infection status. These findings suggest that hybrid immunity induced by omicron breakthrough infections is characterized by significant immune enhancement that can help protect against future omicron variants.

Published
2023
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17. Mitochondria are secreted in extracellular vesicles when lysosomal function is impaired

Author

Wenjing Liang, Shakti Sagar, Rishith Ravindran, Rita H. Najor, Justin M. Quiles, Liguo Chi, Rachel Y. Diao, Benjamin P. Woodall, Leonardo J. Leon, Erika Zumaya, Jason Duran, David M. Cauvi, Antonio De Maio, Eric D. Adler, and Åsa B. Gustafsson

Subjects
Science
Abstract

Abstract Mitochondrial quality control is critical for cardiac homeostasis as these organelles are responsible for generating most of the energy needed to sustain contraction. Dysfunctional mitochondria are normally degraded via intracellular degradation pathways that converge on the lysosome. Here, we identified an alternative mechanism to eliminate mitochondria when lysosomal function is compromised. We show that lysosomal inhibition leads to increased secretion of mitochondria in large extracellular vesicles (EVs). The EVs are produced in multivesicular bodies, and their release is independent of autophagy. Deletion of the small GTPase Rab7 in cells or adult mouse heart leads to increased secretion of EVs containing ubiquitinated cargos, including intact mitochondria. The secreted EVs are captured by macrophages without activating inflammation. Hearts from aged mice or Danon disease patients have increased levels of secreted EVs containing mitochondria indicating activation of vesicular release during cardiac pathophysiology. Overall, these findings establish that mitochondria are eliminated in large EVs through the endosomal pathway when lysosomal degradation is inhibited.

Published
2023
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18. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Author

Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, and Rita Horvath

Subjects
Science
Abstract

Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neuromuscular transmission defect.

Published
2023
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19. Circum-Arctic release of terrestrial carbon varies between regions and sources

Author

Jannik Martens, Birgit Wild, Igor Semiletov, Oleg V. Dudarev, and Örjan Gustafsson

Subjects
Science
Abstract

This synthesis of carbon isotope data in circum-Arctic shelf sediments provides a holistic, receptor-based perspective of how carbon release and transport vary between Arctic soils, peat and permafrost deposits amongst the different Arctic regions.

Published
2022
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20. Organic matter composition and greenhouse gas production of thawing subsea permafrost in the Laptev Sea

Author

Birgit Wild, Natalia Shakhova, Oleg Dudarev, Alexey Ruban, Denis Kosmach, Vladimir Tumskoy, Tommaso Tesi, Hanna Grimm, Inna Nybom, Felipe Matsubara, Helena Alexanderson, Martin Jakobsson, Alexey Mazurov, Igor Semiletov, and Örjan Gustafsson

Subjects
Science
Abstract

Subsea permafrost underneath the Arctic Ocean is one of the least understood compartments of the global carbon cycle. Here, Wild et al. shed light on its carbon sources, degradation history and potential greenhouse gas release after thaw.

Published
2022
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21. Large contribution of fossil-derived components to aqueous secondary organic aerosols in China

Author

Buqing Xu, Gan Zhang, Örjan Gustafsson, Kimitaka Kawamura, Jun Li, August Andersson, Srinivas Bikkina, Bhagawati Kunwar, Ambarish Pokhrel, Guangcai Zhong, Shizhen Zhao, Jing Li, Chen Huang, Zhineng Cheng, Sanyuan Zhu, Pingan Peng, and Guoying Sheng

Subjects
Science
Abstract

Isotope fingerprinting is used to track precursor sources and formation pathways of aqueous SOA, such as oxalic acid, finding that fossil fuel precursors contributions have largely been underestimated.

Published
2022
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22. Lsm7 phase-separated condensates trigger stress granule formation

Author

Michelle Lindström, Lihua Chen, Shan Jiang, Dan Zhang, Yuan Gao, Ju Zheng, Xinxin Hao, Xiaoxue Yang, Arpitha Kabbinale, Johannes Thoma, Lisa C. Metzger, Deyuan Y. Zhang, Xuefeng Zhu, Huisheng Liu, Claes M. Gustafsson, Björn M. Burmann, Joris Winderickx, Per Sunnerhagen, and Beidong Liu

Subjects
Science
Abstract

Stress granules are non-membranous organelles connected to stress responses and age-related disease. Here, the authors identify a conserved yeast protein, Lsm7, that facilitates stress granule formation through dynamic liquid-liquid phase separation condensates upon 2-deoxy-D-glucose-induced stress.

Published
2022
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25. Lsm7 phase-separated condensates trigger stress granule formation

Author

Lindström, Michelle, Chen, Lihua, Jiang, Shan, Zhang, Dan, Gao, Yuan, Zheng, Ju, Hao, Xinxin, Yang, Xiaoxue, Kabbinale, Arpitha, Thoma, Johannes, Metzger, Lisa C., Zhang, Deyuan Y., Zhu, Xuefeng, Liu, Huisheng, Gustafsson, Claes M., Burmann, Björn M., Winderickx, Joris, Sunnerhagen, Per, and Liu, Beidong

Published
2022
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27. RSPO3 is important for trabecular bone and fracture risk in mice and humans

Author

Karin H. Nilsson, Petra Henning, Maha El Shahawy, Maria Nethander, Thomas Levin Andersen, Charlotte Ejersted, Jianyao Wu, Karin L. Gustafsson, Antti Koskela, Juha Tuukkanen, Pedro P. C. Souza, Jan Tuckermann, Mattias Lorentzon, Linda Engström Ruud, Terho Lehtimäki, Jon H. Tobias, Sirui Zhou, Ulf H. Lerner, J. Brent Richards, Sofia Movérare-Skrtic, and Claes Ohlsson

Subjects
Science
Abstract

Genetic association signals for fractures have been reported at the RSPO3 locus, but the causal gene and the underlying mechanism are unknown. Here, the authors show that RSPO3 exerts an important role for vertebral trabecular bone mass and bone strength in mice and fracture risk in humans.

Published
2021
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28. A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids

Author

Mina-A Jhun, Michael Mendelson, Rory Wilson, Rahul Gondalia, Roby Joehanes, Elias Salfati, Xiaoping Zhao, Kim Valeska Emilie Braun, Anh Nguyet Do, Åsa K. Hedman, Tao Zhang, Elena Carnero-Montoro, Jincheng Shen, Traci M. Bartz, Jennifer A. Brody, May E. Montasser, Jeff R. O’Connell, Chen Yao, Rui Xia, Eric Boerwinkle, Megan Grove, Weihua Guan, Pfeiffer Liliane, Paula Singmann, Martina Müller-Nurasyid, Thomas Meitinger, Christian Gieger, Annette Peters, Wei Zhao, Erin B. Ware, Jennifer A. Smith, Klodian Dhana, Joyce van Meurs, Andre Uitterlinden, Mohammad Arfan Ikram, Mohsen Ghanbari, Deugi Zhi, Stefan Gustafsson, Lars Lind, Shengxu Li, Dianjianyi Sun, Tim D. Spector, Yii-der Ida Chen, Coleen Damcott, Alan R. Shuldiner, Devin M. Absher, Steve Horvath, Philip S. Tsao, Sharon Kardia, Bruce M. Psaty, Nona Sotoodehnia, Jordana T. Bell, Erik Ingelsson, Wei Chen, Abbas Dehghan, Donna K. Arnett, Melanie Waldenberger, Lifang Hou, Eric A. Whitsel, Andrea Baccarelli, Daniel Levy, Myriam Fornage, Marguerite R. Irvin, and Themistocles L. Assimes

Subjects
Science
Abstract

Abnormal blood lipid levels are important risk factors for cardiovascular and other various diseases. Here the authors conduct a large-scale multi-ethnic epigenome-wide association study combined with epigenetic (cis-QTL and eQTM) data, and identify CpG-lipid traits associations that are specific to or common across racial/ethnic groups.

Published
2021
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29. POLRMT mutations impair mitochondrial transcription causing neurological disease

Author

Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, and Robert W. Taylor

Subjects
Science
Abstract

POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.

Published
2021
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30. Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Author

Kilpeläinen, Tuomas O, Carli, Jayne F Martin, Skowronski, Alicja A, Sun, Qi, Kriebel, Jennifer, Feitosa, Mary F, Hedman, Åsa K, Drong, Alexander W, Hayes, James E, Zhao, Jinghua, Pers, Tune H, Schick, Ursula, Grarup, Niels, Kutalik, Zoltán, Trompet, Stella, Mangino, Massimo, Kristiansson, Kati, Beekman, Marian, Lyytikäinen, Leo-Pekka, Eriksson, Joel, Henneman, Peter, Lahti, Jari, Tanaka, Toshiko, Luan, Jian'an, Del Greco M, Fabiola, Pasko, Dorota, Renström, Frida, Willems, Sara M, Mahajan, Anubha, Rose, Lynda M, Guo, Xiuqing, Liu, Yongmei, Kleber, Marcus E, Pérusse, Louis, Gaunt, Tom, Ahluwalia, Tarunveer S, Ju Sung, Yun, Ramos, Yolande F, Amin, Najaf, Amuzu, Antoinette, Barroso, Inês, Bellis, Claire, Blangero, John, Buckley, Brendan M, Böhringer, Stefan, I Chen, Yii-Der, de Craen, Anton JN, Crosslin, David R, Dale, Caroline E, Dastani, Zari, Day, Felix R, Deelen, Joris, Delgado, Graciela E, Demirkan, Ayse, Finucane, Francis M, Ford, Ian, Garcia, Melissa E, Gieger, Christian, Gustafsson, Stefan, Hallmans, Göran, Hankinson, Susan E, Havulinna, Aki S, Herder, Christian, Hernandez, Dena, Hicks, Andrew A, Hunter, David J, Illig, Thomas, Ingelsson, Erik, Ioan-Facsinay, Andreea, Jansson, John-Olov, Jenny, Nancy S, Jørgensen, Marit E, Jørgensen, Torben, Karlsson, Magnus, Koenig, Wolfgang, Kraft, Peter, Kwekkeboom, Joanneke, Laatikainen, Tiina, Ladwig, Karl-Heinz, LeDuc, Charles A, Lowe, Gordon, Lu, Yingchang, Marques-Vidal, Pedro, Meisinger, Christa, Menni, Cristina, Morris, Andrew P, Myers, Richard H, Männistö, Satu, Nalls, Mike A, Paternoster, Lavinia, Peters, Annette, Pradhan, Aruna D, Rankinen, Tuomo, Rasmussen-Torvik, Laura J, Rathmann, Wolfgang, Rice, Treva K, Brent Richards, J, Ridker, Paul M, Sattar, Naveed, and Savage, David B

Subjects
Adipose Tissue, Animals, Mice, Leptin, RNA, Messenger, Tissue Culture Techniques, Gene Expression Regulation, Male, Genome-Wide Association Study, Gene Knockdown Techniques, RNA, Messenger
Abstract

Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating circulating leptin levels have been uncovered. Therefore, we performed a genome-wide association study (GWAS) of circulating leptin levels from 32,161 individuals and followed up loci reaching P

Published
2016

31. Single-cell analysis uncovers fibroblast heterogeneity and criteria for fibroblast and mural cell identification and discrimination

Author

Lars Muhl, Guillem Genové, Stefanos Leptidis, Jianping Liu, Liqun He, Giuseppe Mocci, Ying Sun, Sonja Gustafsson, Byambajav Buyandelger, Indira V. Chivukula, Åsa Segerstolpe, Elisabeth Raschperger, Emil M. Hansson, Johan L. M. Björkegren, Xiao-Rong Peng, Michael Vanlandewijck, Urban Lendahl, and Christer Betsholtz

Subjects
Science
Abstract

To define and distinguish fibroblasts from vascular mural cells have remained challenging. Here, using single-cell RNA sequencing and tissue imaging, the authors provide a molecular basis for cell type classification and reveal inter- and intra-organ diversity of these cell types.

Published
2020
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32. Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer

Author

Andrea Strakova, Thomas J. Nicholls, Adrian Baez-Ortega, Máire Ní Leathlobhair, Alexander T. Sampson, Katherine Hughes, Isobelle A. G. Bolton, Kevin Gori, Jinhong Wang, Ilona Airikkala-Otter, Janice L. Allen, Karen M. Allum, Clara L. Arnold, Leontine Bansse-Issa, Thinlay N. Bhutia, Jocelyn L. Bisson, Kelli Blank, Cristóbal Briceño, Artemio Castillo Domracheva, Anne M. Corrigan, Hugh R. Cran, Jane T. Crawford, Stephen M. Cutter, Eric Davis, Karina F. de Castro, Andrigo B. De Nardi, Anna P. de Vos, Laura Delgadillo Keenan, Edward M. Donelan, Adela R. Espinoza Huerta, Ibikunle A. Faramade, Mohammed Fazil, Eleni Fotopoulou, Skye N. Fruean, Fanny Gallardo-Arrieta, Olga Glebova, Pagona G. Gouletsou, Rodrigo F. Häfelin Manrique, Joaquim J. G. P. Henriques, Rodrigo S. Horta, Natalia Ignatenko, Yaghouba Kane, Cathy King, Debbie Koenig, Ada Krupa, Steven J. Kruzeniski, Marta Lanza-Perea, Mihran Lazyan, Adriana M. Lopez Quintana, Thibault Losfelt, Gabriele Marino, Simón Martínez Castañeda, Mayra F. Martínez-López, Bedan M. Masuruli, Michael Meyer, Edward J. Migneco, Berna Nakanwagi, Karter B. Neal, Winifred Neunzig, Sally J. Nixon, Antonio Ortega-Pacheco, Francisco Pedraza-Ordoñez, Maria C. Peleteiro, Katherine Polak, Ruth J. Pye, Juan C. Ramirez-Ante, John F. Reece, Jose Rojas Gutierrez, Haleema Sadia, Sheila K. Schmeling, Olga Shamanova, Alan G. Sherlock, Audrey E. Steenland-Smit, Alla Svitich, Lester J. Tapia Martínez, Ismail Thoya Ngoka, Cristian G. Torres, Elizabeth M. Tudor, Mirjam G. van der Wel, Bogdan A. Vițălaru, Sevil A. Vural, Oliver Walkinton, Alvaro S. Wehrle-Martinez, Sophie A. E. Widdowson, Irina Zvarich, Patrick F. Chinnery, Maria Falkenberg, Claes M. Gustafsson, and Elizabeth P. Murchison

Subjects
Science
Abstract

The competitive dynamics of mitochondrial haplotypes juxtaposed within the same cell are poorly studied. Here the authors show, in the context of a transmissible cancer, that one haplotype has recurrently entered cancer cells by horizontal transfer and appears to have a ‘selfish’ selective advantage.

Published
2020
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33. Deriving disease modules from the compressed transcriptional space embedded in a deep autoencoder

Author

Sanjiv K. Dwivedi, Andreas Tjärnberg, Jesper Tegnér, and Mika Gustafsson

Subjects
Science
Abstract

The study of disease modules facilitates insight into complex diseases, but their identification relies on knowledge of molecular networks. Here, the authors show that disease modules and genes can also be discovered in deep autoencoder representations of large human gene expression datasets.

Published
2020
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34. A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids

Author

Jhun, Min-A, Mendelson, Michael, Wilson, Rory, Gondalia, Rahul, Joehanes, Roby, Salfati, Elias, Zhao, Xiaoping, Braun, Kim Valeska Emilie, Do, Anh Nguyet, Hedman, Åsa K., Zhang, Tao, Carnero-Montoro, Elena, Shen, Jincheng, Bartz, Traci M., Brody, Jennifer A., Montasser, May E., O’Connell, Jeff R., Yao, Chen, Xia, Rui, Boerwinkle, Eric, Grove, Megan, Guan, Weihua, Liliane, Pfeiffer, Singmann, Paula, Müller-Nurasyid, Martina, Meitinger, Thomas, Gieger, Christian, Peters, Annette, Zhao, Wei, Ware, Erin B., Smith, Jennifer A., Dhana, Klodian, van Meurs, Joyce, Uitterlinden, Andre, Ikram, Mohammad Arfan, Ghanbari, Mohsen, Zhi, Deugi, Gustafsson, Stefan, Lind, Lars, Li, Shengxu, Sun, Dianjianyi, Spector, Tim D., Chen, Yii-der Ida, Damcott, Coleen, Shuldiner, Alan R., Absher, Devin M., Horvath, Steve, Tsao, Philip S., Kardia, Sharon, Psaty, Bruce M., Sotoodehnia, Nona, Bell, Jordana T., Ingelsson, Erik, Chen, Wei, Dehghan, Abbas, Arnett, Donna K., Waldenberger, Melanie, Hou, Lifang, Whitsel, Eric A., Baccarelli, Andrea, Levy, Daniel, Fornage, Myriam, Irvin, Marguerite R., and Assimes, Themistocles L.

Published
2021
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35. RSPO3 is important for trabecular bone and fracture risk in mice and humans

Author

Nilsson, Karin H., Henning, Petra, El Shahawy, Maha, Nethander, Maria, Andersen, Thomas Levin, Ejersted, Charlotte, Wu, Jianyao, Gustafsson, Karin L., Koskela, Antti, Tuukkanen, Juha, Souza, Pedro P. C., Tuckermann, Jan, Lorentzon, Mattias, Ruud, Linda Engström, Lehtimäki, Terho, Tobias, Jon H., Zhou, Sirui, Lerner, Ulf H., Richards, J. Brent, Movérare-Skrtic, Sofia, and Ohlsson, Claes

Published
2021
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36. Publisher Correction: A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids

Author

Jhun, Min-A, Mendelson, Michael, Wilson, Rory, Gondalia, Rahul, Joehanes, Roby, Salfati, Elias, Zhao, Xiaoping, Braun, Kim Valeska Emilie, Do, Anh Nguyet, Hedman, Åsa K., Zhang, Tao, Carnero-Montoro, Elena, Shen, Jincheng, Bartz, Traci M., Brody, Jennifer A., Montasser, May E., O’Connell, Jeff R., Yao, Chen, Xia, Rui, Boerwinkle, Eric, Grove, Megan, Guan, Weihua, Liliane, Pfeiffer, Singmann, Paula, Müller-Nurasyid, Martina, Meitinger, Thomas, Gieger, Christian, Peters, Annette, Zhao, Wei, Ware, Erin B., Smith, Jennifer A., Dhana, Klodian, van Meurs, Joyce, Uitterlinden, Andre, Ikram, Mohammad Arfan, Ghanbari, Mohsen, Zhi, Deugi, Gustafsson, Stefan, Lind, Lars, Li, Shengxu, Sun, Dianjianyi, Spector, Tim D., Chen, Yii-der Ida, Damcott, Coleen, Shuldiner, Alan R., Absher, Devin M., Horvath, Steve, Tsao, Philip S., Kardia, Sharon, Psaty, Bruce M., Sotoodehnia, Nona, Bell, Jordana T., Ingelsson, Erik, Chen, Wei, Dehghan, Abbas, Arnett, Donna K., Waldenberger, Melanie, Hou, Lifang, Whitsel, Eric A., Baccarelli, Andrea, Levy, Daniel, Fornage, Myriam, Irvin, Marguerite R., and Assimes, Themistocles L.

Published
2021
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37. POLRMT mutations impair mitochondrial transcription causing neurological disease

Author

Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J., McBride, Kim L., Bowden, Sasigarn A., Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole, Prada, Carlos E., Õunap, Katrin, Wojcik, Monica H., Pajusalu, Sander, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B., Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M., and Taylor, Robert W.

Published
2021
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38. All-printed large-scale integrated circuits based on organic electrochemical transistors

Author

Peter Andersson Ersman, Roman Lassnig, Jan Strandberg, Deyu Tu, Vahid Keshmiri, Robert Forchheimer, Simone Fabiano, Göran Gustafsson, and Magnus Berggren

Subjects
Science
Abstract

Though designing digital circuits using organic electrochemical transistors (OECTs) is promising due to their high performance, inherent large footprint limits adoption. Here, the authors report staggered top-gate OECTs for all-printed integrated circuits with fast switching and small footprint.

Published
2019
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39. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Author

Wessel, Jennifer, Chu, Audrey Y, Willems, Sara M, Wang, Shuai, Yaghootkar, Hanieh, Brody, Jennifer A, Dauriz, Marco, Hivert, Marie-France, Raghavan, Sridharan, Lipovich, Leonard, Hidalgo, Bertha, Fox, Keolu, Huffman, Jennifer E, An, Ping, Lu, Yingchang, Rasmussen-Torvik, Laura J, Grarup, Niels, Ehm, Margaret G, Li, Li, Baldridge, Abigail S, Stančáková, Alena, Abrol, Ravinder, Besse, Céline, Boland, Anne, Bork-Jensen, Jette, Fornage, Myriam, Freitag, Daniel F, Garcia, Melissa E, Guo, Xiuqing, Hara, Kazuo, Isaacs, Aaron, Jakobsdottir, Johanna, Lange, Leslie A, Layton, Jill C, Li, Man, Hua Zhao, Jing, Meidtner, Karina, Morrison, Alanna C, Nalls, Mike A, Peters, Marjolein J, Sabater-Lleal, Maria, Schurmann, Claudia, Silveira, Angela, Smith, Albert V, Southam, Lorraine, Stoiber, Marcus H, Strawbridge, Rona J, Taylor, Kent D, Varga, Tibor V, Allin, Kristine H, Amin, Najaf, Aponte, Jennifer L, Aung, Tin, Barbieri, Caterina, Bihlmeyer, Nathan A, Boehnke, Michael, Bombieri, Cristina, Bowden, Donald W, Burns, Sean M, Chen, Yuning, Chen, Yii-DerI, Cheng, Ching-Yu, Correa, Adolfo, Czajkowski, Jacek, Dehghan, Abbas, Ehret, Georg B, Eiriksdottir, Gudny, Escher, Stefan A, Farmaki, Aliki-Eleni, Frånberg, Mattias, Gambaro, Giovanni, Giulianini, Franco, Goddard, William A, Goel, Anuj, Gottesman, Omri, Grove, Megan L, Gustafsson, Stefan, Hai, Yang, Hallmans, Göran, Heo, Jiyoung, Hoffmann, Per, Ikram, Mohammad K, Jensen, Richard A, Jørgensen, Marit E, Jørgensen, Torben, Karaleftheri, Maria, Khor, Chiea C, Kirkpatrick, Andrea, Kraja, Aldi T, Kuusisto, Johanna, Lange, Ethan M, Lee, IT, Lee, Wen-Jane, Leong, Aaron, Liao, Jiemin, Liu, Chunyu, Liu, Yongmei, Lindgren, Cecilia M, Linneberg, Allan, and Malerba, Giovanni

Subjects
EPIC-InterAct Consortium, Humans, Diabetes Mellitus, Type 2, Genetic Predisposition to Disease, Insulin, Glucose-6-Phosphatase, Blood Glucose, Oligonucleotide Array Sequence Analysis, Fasting, Polymorphism, Single Nucleotide, African Continental Ancestry Group, European Continental Ancestry Group, Genetic Variation, Genetic Loci, Genetic Association Studies, Mutation Rate, Exome, Glucagon-Like Peptide-1 Receptor, Diabetes Mellitus, Type 2, Polymorphism, Single Nucleotide, Diabetes, Genetics, Nutrition, Clinical Research, Prevention, Human Genome, 2.1 Biological and endogenous factors, Metabolic and Endocrine
Abstract

Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=-0.09±0.01 mmol l(-1), P=3.4 × 10(-12)), T2D risk (OR[95%CI]=0.86[0.76-0.96], P=0.010), early insulin secretion (β=-0.07±0.035 pmolinsulin mmolglucose(-1), P=0.048), but higher 2-h glucose (β=0.16±0.05 mmol l(-1), P=4.3 × 10(-4)). We identify a gene-based association with FG at G6PC2 (pSKAT=6.8 × 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF=20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (β=0.02±0.004 mmol l(-1), P=1.3 × 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.

Published
2015

40. Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors

Author

Marie E Jönsson, Per Ludvik Brattås, Charlotte Gustafsson, Rebecca Petri, David Yudovich, Karolina Pircs, Shana Verschuere, Sofia Madsen, Jenny Hansson, Jonas Larsson, Robert Månsson, Alexander Meissner, and Johan Jakobsson

Subjects
Science
Abstract

DNA methylation plays an important role in silencing transposable elements. Here the authors find that loss of DNMT1 and DNA methylation leads to transcriptional activation and chromatin remodelling of evolutionarily young—hominoid-specific —LINE-1 elements which then act as alternative promoters for neuronal genes.

Published
2019
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41. Therapeutic efficacy of dimethyl fumarate in relapsing-remitting multiple sclerosis associates with ROS pathway in monocytes

Author

Karl E. Carlström, Ewoud Ewing, Mathias Granqvist, Alexandra Gyllenberg, Shahin Aeinehband, Sara Lind Enoksson, Antonio Checa, Tejaswi V. S. Badam, Jesse Huang, David Gomez-Cabrero, Mika Gustafsson, Faiez Al Nimer, Craig E. Wheelock, Ingrid Kockum, Tomas Olsson, Maja Jagodic, and Fredrik Piehl

Subjects
Science
Abstract

Dimethyl fumarate (DMF) is an established treatment for relapsing multiple sclerosis with unclear mechanism of action. Here the authors distinguish DMF responders by monocyte counts and redox gene signature in a prospective longitudinal cohort at 3 month of therapy, and associate NOX3 genetic variants with outcome.

Published
2019
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42. Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

Author

Örjan Persson, Yazh Muthukumar, Swaraj Basu, Louise Jenninger, Jay P. Uhler, Anna-Karin Berglund, Robert McFarland, Robert W. Taylor, Claes M. Gustafsson, Erik Larsson, and Maria Falkenberg

Subjects
Science
Abstract

Large-scale deletions of mitochondrial DNA (mtDNA) are associated with different human mitochondrial diseases and normal human ageing. Here the authors present a model for mtDNA formation based on generation sequencing analysis of patients samples and in vitro reconstituted mtDNA deletion using purified proteins.

Published
2019
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43. Molecular and functional heterogeneity of IL-10-producing CD4 + T cells

Author

Leonie Brockmann, Shiwa Soukou, Babett Steglich, Paulo Czarnewski, Lilan Zhao, Sandra Wende, Tanja Bedke, Can Ergen, Carolin Manthey, Theodora Agalioti, Maria Geffken, Oliver Seiz, Sara M. Parigi, Chiara Sorini, Jens Geginat, Keishi Fujio, Thomas Jacobs, Thomas Roesch, Jacob R. Izbicki, Ansgar W. Lohse, Richard A. Flavell, Christian Krebs, Jan-Ake Gustafsson, Per Antonson, Maria Grazia Roncarolo, Eduardo J. Villablanca, Nicola Gagliani, and Samuel Huber

Subjects
Science
Abstract

Tr1 cells are considered an immunosuppressive CD4 T cell population producing IL-10. Here the authors show that IL-10 is insufficient for Tr1 immunosuppression, define surface markers and transcriptional program of the immunosuppressive subset within Tr1, and reveal its deficiency in patients with IBD.

Published
2018
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44. Targeting PFKFB3 radiosensitizes cancer cells and suppresses homologous recombination

Author

Nina M. S. Gustafsson, Katarina Färnegårdh, Nadilly Bonagas, Anna Huguet Ninou, Petra Groth, Elisee Wiita, Mattias Jönsson, Kenth Hallberg, Jemina Lehto, Rosa Pennisi, Jessica Martinsson, Carina Norström, Jessica Hollers, Johan Schultz, Martin Andersson, Natalia Markova, Petra Marttila, Baek Kim, Martin Norin, Thomas Olin, and Thomas Helleday

Subjects
Science
Abstract

Targeting the glycolytic PFKFB3 enzyme is being studied as a therapeutic strategy against cancer. Here the authors identify PFKFB3 as being involved in homologous recombination (HR) repair of DNA double strand breaks (DSBs) and present a PFKFB3 inhibitor.

Published
2018
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45. MAP1B mutations cause intellectual disability and extensive white matter deficit

Author

G. Bragi Walters, Omar Gustafsson, Gardar Sveinbjornsson, Valgerdur K. Eiriksdottir, Arna B. Agustsdottir, Gudrun A. Jonsdottir, Stacy Steinberg, Arni F. Gunnarsson, Magnus I. Magnusson, Unnur Unnsteinsdottir, Amy L. Lee, Adalbjorg Jonasdottir, Asgeir Sigurdsson, Aslaug Jonasdottir, Astros Skuladottir, Lina Jonsson, Muhammad S. Nawaz, Patrick Sulem, Mike Frigge, Andres Ingason, Askell Love, Gudmundur L. Norddhal, Mark Zervas, Daniel F. Gudbjartsson, Magnus O. Ulfarsson, Evald Saemundsen, Hreinn Stefansson, and Kari Stefansson

Subjects
Science
Abstract

Intellectual disability (ID) is characterized by an intelligence quotient of below 70 and impaired adaptive skills. Here, analyzing whole genome sequences from 31,463 Icelanders, Walters et al. identify variants in MAP1B associated with ID and extensive brain-wide white matter deficits.

Published
2018
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46. Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

Author

Irene Franco, Anna Johansson, Karl Olsson, Peter Vrtačnik, Pär Lundin, Hafdis T. Helgadottir, Malin Larsson, Gwladys Revêchon, Carla Bosia, Andrea Pagnani, Paolo Provero, Thomas Gustafsson, Helene Fischer, and Maria Eriksson

Subjects
Science
Abstract

Aging skeletal muscle shows declining numbers and activity of satellite cells. Here, Franco et al. show that in satellite cells of the human leg muscle vastus lateralis, somatic mutations accumulate with age and that these mutations become enriched in exons and promoters of genes involved in muscle function.

Published
2018
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47. Bounding cross-shelf transport time and degradation in Siberian-Arctic land-ocean carbon transfer

Author

Lisa Bröder, Tommaso Tesi, August Andersson, Igor Semiletov, and Örjan Gustafsson

Subjects
Science
Abstract

The fate of terrestrial organic carbon in marine sediments is debated due to large uncertainties in its degradation during transport. Here, using compound-specific radiocarbon dating of terrestrial biomarkers, the authors show that transport across the East Siberian Arctic shelf takes 3600 ± 300 years.

Published
2018
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48. Publisher Correction: Single-cell analysis uncovers fibroblast heterogeneity and criteria for fibroblast and mural cell identification and discrimination

Author

Muhl, Lars, Genové, Guillem, Leptidis, Stefanos, Liu, Jianping, He, Liqun, Mocci, Giuseppe, Sun, Ying, Gustafsson, Sonja, Buyandelger, Byambajav, Chivukula, Indira V., Segerstolpe, Åsa, Raschperger, Elisabeth, Hansson, Emil M., Björkegren, Johan L. M., Peng, Xiao-Rong, Vanlandewijck, Michael, Lendahl, Urban, and Betsholtz, Christer

Published
2020
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49. Single-cell analysis uncovers fibroblast heterogeneity and criteria for fibroblast and mural cell identification and discrimination

Author

Muhl, Lars, Genové, Guillem, Leptidis, Stefanos, Liu, Jianping, He, Liqun, Mocci, Giuseppe, Sun, Ying, Gustafsson, Sonja, Buyandelger, Byambajav, Chivukula, Indira V., Segerstolpe, Åsa, Raschperger, Elisabeth, Hansson, Emil M., Björkegren, Johan L. M., Peng, Xiao-Rong, Vanlandewijck, Michael, Lendahl, Urban, and Betsholtz, Christer

Published
2020
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50. Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer

Author

Strakova, Andrea, Nicholls, Thomas J., Baez-Ortega, Adrian, Ní Leathlobhair, Máire, Sampson, Alexander T., Hughes, Katherine, Bolton, Isobelle A. G., Gori, Kevin, Wang, Jinhong, Airikkala-Otter, Ilona, Allen, Janice L., Allum, Karen M., Arnold, Clara L., Bansse-Issa, Leontine, Bhutia, Thinlay N., Bisson, Jocelyn L., Blank, Kelli, Briceño, Cristóbal, Castillo Domracheva, Artemio, Corrigan, Anne M., Cran, Hugh R., Crawford, Jane T., Cutter, Stephen M., Davis, Eric, de Castro, Karina F., De Nardi, Andrigo B., de Vos, Anna P., Delgadillo Keenan, Laura, Donelan, Edward M., Espinoza Huerta, Adela R., Faramade, Ibikunle A., Fazil, Mohammed, Fotopoulou, Eleni, Fruean, Skye N., Gallardo-Arrieta, Fanny, Glebova, Olga, Gouletsou, Pagona G., Häfelin Manrique, Rodrigo F., Henriques, Joaquim J. G. P., Horta, Rodrigo S., Ignatenko, Natalia, Kane, Yaghouba, King, Cathy, Koenig, Debbie, Krupa, Ada, Kruzeniski, Steven J., Lanza-Perea, Marta, Lazyan, Mihran, Lopez Quintana, Adriana M., Losfelt, Thibault, Marino, Gabriele, Martínez Castañeda, Simón, Martínez-López, Mayra F., Masuruli, Bedan M., Meyer, Michael, Migneco, Edward J., Nakanwagi, Berna, Neal, Karter B., Neunzig, Winifred, Nixon, Sally J., Ortega-Pacheco, Antonio, Pedraza-Ordoñez, Francisco, Peleteiro, Maria C., Polak, Katherine, Pye, Ruth J., Ramirez-Ante, Juan C., Reece, John F., Rojas Gutierrez, Jose, Sadia, Haleema, Schmeling, Sheila K., Shamanova, Olga, Sherlock, Alan G., Steenland-Smit, Audrey E., Svitich, Alla, Tapia Martínez, Lester J., Thoya Ngoka, Ismail, Torres, Cristian G., Tudor, Elizabeth M., van der Wel, Mirjam G., Vițălaru, Bogdan A., Vural, Sevil A., Walkinton, Oliver, Wehrle-Martinez, Alvaro S., Widdowson, Sophie A. E., Zvarich, Irina, Chinnery, Patrick F., Falkenberg, Maria, Gustafsson, Claes M., and Murchison, Elizabeth P.

Published
2020
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