Search Results - "CHESI, Alessandra"

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS by Sun, Zhihui, Diaz, Zamia, Fang, Xiaodong, Hart, Michael P, Chesi, Alessandra, Shorter, James, Gitler, Aaron D

“…TDP-43 and FUS are RNA-binding proteins that form cytoplasmic inclusions in some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar…”
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Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density by Chesi, Alessandra, Wagley, Yadav, Johnson, Matthew E., Manduchi, Elisabetta, Su, Chun, Lu, Sumei, Leonard, Michelle E., Hodge, Kenyaita M., Pippin, James A., Hankenson, Kurt D., Wells, Andrew D., Grant, Struan F. A.

“…Osteoporosis is a devastating disease with an essential genetic component. GWAS have discovered genetic signals robustly associated with bone mineral density…”
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A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression by Gallagher, Michael D., Posavi, Marijan, Huang, Peng, Unger, Travis L., Berlyand, Yosef, Gruenewald, Analise L., Chesi, Alessandra, Manduchi, Elisabetta, Wells, Andrew D., Grant, Struan F.A., Blobel, Gerd A., Brown, Christopher D., Chen-Plotkin, Alice S.

“…Neurodegenerative diseases pose an extraordinary threat to the world’s aging population, yet no disease-modifying therapies are available. Although genome-wide…”
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Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells by Su, Chun, Johnson, Matthew E., Torres, Annabel, Thomas, Rajan M., Manduchi, Elisabetta, Sharma, Prabhat, Mehra, Parul, Le Coz, Carole, Leonard, Michelle E., Lu, Sumei, Hodge, Kenyaita M., Chesi, Alessandra, Pippin, James, Romberg, Neil, Grant, Struan F. A., Wells, Andrew D.

“…Systemic lupus erythematosus (SLE) is mediated by autoreactive antibodies that damage multiple tissues. Genome-wide association studies (GWAS) link >60 loci…”
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Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types by Pahl, Matthew C, Le Coz, Carole, Su, Chun, Sharma, Prabhat, Thomas, Rajan M, Pippin, James A, Cruz Cabrera, Emylette, Johnson, Matthew E, Leonard, Michelle E, Lu, Sumei, Chesi, Alessandra, Sullivan, Kathleen E, Romberg, Neil, Grant, Struan F A, Wells, Andrew D

“…SARS-CoV-2 infection results in a broad spectrum of COVID-19 disease, from mild or no symptoms to hospitalization and death. COVID-19 disease severity has been…”
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Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes by Mishra, Rajashree, Chesi, Alessandra, Cousminer, Diana L, Hawa, Mohammad I, Bradfield, Jonathan P, Hodge, Kenyaita M, Guy, Vanessa C, Hakonarson, Hakon, Mauricio, Didac, Schloot, Nanette C, Yderstræde, Knud B, Voight, Benjamin F, Schwartz, Stanley, Boehm, Bernhard O, Leslie, Richard David, Grant, Struan F A

“…In adulthood, autoimmune diabetes can present as non-insulin-requiring diabetes, termed as 'latent autoimmune diabetes in adults' (LADA). In this study, we…”
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Genome-wide analysis of mammalian promoter architecture and evolution by Hume, David A, Hayashizaki, Yoshihide, Carninci, Piero, Sandelin, Albin, Lenhard, Boris, Katayama, Shintaro, Shimokawa, Kazuro, Ponjavic, Jasmina, Semple, Colin A M, Taylor, Martin S, Engström, Pär G, Frith, Martin C, Forrest, Alistair R R, Alkema, Wynand B, Tan, Sin Lam, Plessy, Charles, Kodzius, Rimantas, Ravasi, Timothy, Kasukawa, Takeya, Fukuda, Shiro, Kanamori-Katayama, Mutsumi, Kitazume, Yayoi, Kawaji, Hideya, Kai, Chikatoshi, Nakamura, Mari, Konno, Hideaki, Nakano, Kenji, Mottagui-Tabar, Salim, Arner, Peter, Chesi, Alessandra, Gustincich, Stefano, Persichetti, Francesca, Suzuki, Harukazu, Grimmond, Sean M, Wells, Christine A, Orlando, Valerio, Wahlestedt, Claes, Liu, Edison T, Harbers, Matthias, Kawai, Jun, Bajic, Vladimir B

“…Mammalian promoters can be separated into two classes, conserved TATA box-enriched promoters, which initiate at a well-defined site, and more plastic, broad…”
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Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver by Çalışkan, Minal, Manduchi, Elisabetta, Rao, H. Shanker, Segert, Julian A., Beltrame, Marcia Holsbach, Trizzino, Marco, Park, YoSon, Baker, Samuel W., Chesi, Alessandra, Johnson, Matthew E., Hodge, Kenyaita M., Leonard, Michelle E., Loza, Baoli, Xin, Dong, Berrido, Andrea M., Hand, Nicholas J., Bauer, Robert C., Wells, Andrew D., Olthoff, Kim M., Shaked, Abraham, Rader, Daniel J., Grant, Struan F.A., Brown, Christopher D.

“…Deciphering the impact of genetic variation on gene regulation is fundamental to understanding common, complex human diseases. Although histone modifications…”
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Body Mass Index (BMI) Trajectories in Infancy Differ by Population Ancestry and May Presage Disparities in Early Childhood Obesity by Roy, Sani M, Chesi, Alessandra, Mentch, Frank, Xiao, Rui, Chiavacci, Rosetta, Mitchell, Jonathan A, Kelly, Andrea, Hakonarson, Hakon, Grant, Struan F.A, Zemel, Babette S, McCormack, Shana E

“…Context: No consensus definition exists for excess adiposity during infancy. After age 2 years, high body mass index (BMI) is related to adverse…”
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Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci by Hammond, Reza K, Pahl, Matthew C, Su, Chun, Cousminer, Diana L, Leonard, Michelle E, Lu, Sumei, Doege, Claudia A, Wagley, Yadav, Hodge, Kenyaita M, Lasconi, Chiara, Johnson, Matthew E, Pippin, James A, Hankenson, Kurt D, Leibel, Rudolph L, Chesi, Alessandra, Wells, Andrew D, Grant, Struan Fa

“…To uncover novel significant association signals (p<5×10 ), genome-wide association studies (GWAS) requires increasingly larger sample sizes to overcome…”
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Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits by Pahl, Matthew C., Doege, Claudia A., Hodge, Kenyaita M., Littleton, Sheridan H., Leonard, Michelle E., Lu, Sumei, Rausch, Rick, Pippin, James A., De Rosa, Maria Caterina, Basak, Alisha, Bradfield, Jonathan P., Hammond, Reza K., Boehm, Keith, Berkowitz, Robert I., Lasconi, Chiara, Su, Chun, Chesi, Alessandra, Johnson, Matthew E., Wells, Andrew D., Voight, Benjamin F., Leibel, Rudolph L., Cousminer, Diana L., Grant, Struan F. A.

“…The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine systems. Given its role governing key traits, such as body weight and…”
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Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual by Cousminer, Diana L, Wagley, Yadav, Pippin, James A, Elhakeem, Ahmed, Way, Gregory P, Pahl, Matthew C, McCormack, Shana E, Chesi, Alessandra, Mitchell, Jonathan A, Kindler, Joseph M, Baird, Denis, Hartley, April, Howe, Laura, Kalkwarf, Heidi J, Lappe, Joan M, Lu, Sumei, Leonard, Michelle E, Johnson, Matthew E, Hakonarson, Hakon, Gilsanz, Vicente, Shepherd, John A, Oberfield, Sharon E, Greene, Casey S, Kelly, Andrea, Lawlor, Deborah A, Voight, Benjamin F, Wells, Andrew D, Zemel, Babette S, Hankenson, Kurt D, Grant, Struan F A

“…Bone accrual impacts lifelong skeletal health, but genetic discovery has been primarily limited to cross-sectional study designs and hampered by uncertainty…”
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The role of the Parkinson's disease gene PARK9 in essential cellular pathways and the manganese homeostasis network in yeast by Chesi, Alessandra, Kilaru, Austin, Fang, Xiaodong, Cooper, Antony A, Gitler, Aaron D

“…YPK9 (Yeast PARK9; also known as YOR291W) is a non-essential yeast gene predicted by sequence to encode a transmembrane P-type transport ATPase. However, its…”
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Inhibition of alpha-synuclein fibrillization by dopamine is mediated by interactions with five C-terminal residues and with E83 in the NAC region by Herrera, Fernando E, Chesi, Alessandra, Paleologou, Katerina E, Schmid, Adrian, Munoz, Adriana, Vendruscolo, Michele, Gustincich, Stefano, Lashuel, Hilal A, Carloni, Paolo

“…The interplay between dopamine and alpha-synuclein (AS) plays a central role in Parkinson's disease (PD). PD results primarily from a severe and selective…”
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CRISPR‐Cas9–Mediated Genome Editing Confirms EPDR1 as an Effector Gene at the BMD GWAS‐Implicated ‘STARD3NL’ Locus by Pippin, James A, Chesi, Alessandra, Wagley, Yadav, Su, Chun, Pahl, Matthew C, Hodge, Kenyaita M, Johnson, Matthew E, Wells, Andrew D, Hankenson, Kurt D, Grant, Struan F A

“…ABSTRACT Genome‐wide–association studies (GWASs) have discovered genetic signals robustly associated with BMD, but typically not the precise localization of…”
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The Genetics of Pediatric Obesity by Chesi, Alessandra, Grant, Struan F.A

“…Obesity among children and adults has notably escalated over recent decades and represents a global major health problem. We now know that both genetic and…”
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways by Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

“…Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing…”
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Infant BMI or Weight-for-Length and Obesity Risk in Early Childhood by Roy, Sani M, Spivack, Jordan G, Faith, Myles S, Chesi, Alessandra, Mitchell, Jonathan A, Kelly, Andrea, Grant, Struan F A, McCormack, Shana E, Zemel, Babette S

“…Weight-for-length (WFL) is currently used to assess adiposity under 2 years. We assessed WFL- versus BMI-based estimates of adiposity in healthy infants in…”
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits by Vogelezang, Suzanne, Bradfield, Jonathan P, Ahluwalia, Tarunveer S, Curtin, John A, Lakka, Timo A, Grarup, Niels, Scholz, Markus, van der Most, Peter J, Monnereau, Claire, Stergiakouli, Evie, Heiskala, Anni, Horikoshi, Momoko, Fedko, Iryna O, Vilor-Tejedor, Natalia, Cousminer, Diana L, Standl, Marie, Wang, Carol A, Viikari, Jorma, Geller, Frank, Íñiguez, Carmen, Pitkänen, Niina, Chesi, Alessandra, Bacelis, Jonas, Yengo, Loic, Torrent, Maties, Ntalla, Ioanna, Helgeland, Øyvind, Selzam, Saskia, Vonk, Judith M, Zafarmand, Mohammed H, Heude, Barbara, Farooqi, Ismaa Sadaf, Alyass, Akram, Beaumont, Robin N, Have, Christian T, Rzehak, Peter, Bilbao, Jose Ramon, Schnurr, Theresia M, Barroso, Inês, Bønnelykke, Klaus, Beilin, Lawrence J, Carstensen, Lisbeth, Charles, Marie-Aline, Chawes, Bo, Clément, Karine, Closa-Monasterolo, Ricardo, Custovic, Adnan, Eriksson, Johan G, Escribano, Joaquin, Groen-Blokhuis, Maria, Grote, Veit, Gruszfeld, Dariusz, Hakonarson, Hakon, Hansen, Torben, Hattersley, Andrew T, Hollensted, Mette, Hottenga, Jouke-Jan, Hyppönen, Elina, Johansson, Stefan, Joro, Raimo, Kähönen, Mika, Karhunen, Ville, Kiess, Wieland, Knight, Bridget A, Koletzko, Berthold, Kühnapfel, Andreas, Landgraf, Kathrin, Langhendries, Jean-Paul, Lehtimäki, Terho, Leinonen, Jaakko T, Li, Aihuali, Lindi, Virpi, Lowry, Estelle, Bustamante, Mariona, Medina-Gomez, Carolina, Melbye, Mads, Michaelsen, Kim F, Morgen, Camilla S, Mori, Trevor A, Nielsen, Tenna R H, Niinikoski, Harri, Oldehinkel, Albertine J, Pahkala, Katja, Panoutsopoulou, Kalliope, Pedersen, Oluf, Pennell, Craig E, Power, Christine, Reijneveld, Sijmen A, Rivadeneira, Fernando, Simpson, Angela, Sly, Peter D, Stokholm, Jakob, Teo, Kook K, Thiering, Elisabeth, Timpson, Nicholas J, Uitterlinden, André G, van Beijsterveldt, Catharina E M, van Schaik, Barbera D C, Vaudel, Marc, Verduci, Elvira

“…The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are…”
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Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects by Medina-Gomez, Carolina, Kemp, John P., Trajanoska, Katerina, Luan, Jian’an, Chesi, Alessandra, Ahluwalia, Tarunveer S., Mook-Kanamori, Dennis O., Ham, Annelies, Hartwig, Fernando P., Evans, Daniel S., Joro, Raimo, Nedeljkovic, Ivana, Zheng, Hou-Feng, Zhu, Kun, Atalay, Mustafa, Liu, Ching-Ti, Nethander, Maria, Broer, Linda, Porleifsson, Gudmar, Mullin, Benjamin H., Handelman, Samuel K., Nalls, Mike A., Jessen, Leon E., Heppe, Denise H.M., Richards, J. Brent, Wang, Carol, Chawes, Bo, Schraut, Katharina E., Amin, Najaf, Wareham, Nick, Karasik, David, Van der Velde, Nathalie, Ikram, M. Arfan, Zemel, Babette S., Zhou, Yanhua, Carlsson, Christian J., Liu, Yongmei, McGuigan, Fiona E., Boer, Cindy G., Bønnelykke, Klaus, Ralston, Stuart H., Robbins, John A., Walsh, John P., Zillikens, M. Carola, Langenberg, Claudia, Li-Gao, Ruifang, Williams, Frances M.K., Harris, Tamara B., Akesson, Kristina, Jackson, Rebecca D., Sigurdsson, Gunnar, den Heijer, Martin, van der Eerden, Bram C.J., van de Peppel, Jeroen, Spector, Timothy D., Pennell, Craig, Horta, Bernardo L., Felix, Janine F., Zhao, Jing Hua, Wilson, Scott G., de Mutsert, Renée, Bisgaard, Hans, Styrkársdóttir, Unnur, Jaddoe, Vincent W., Orwoll, Eric, Lakka, Timo A., Scott, Robert, Grant, Struan F.A., Lorentzon, Mattias, van Duijn, Cornelia M., Wilson, James F., Stefansson, Kari, Psaty, Bruce M., Kiel, Douglas P., Ohlsson, Claes, Ntzani, Evangelia, van Wijnen, Andre J., Forgetta, Vincenzo, Ghanbari, Mohsen, Logan, John G., Williams, Graham R., Bassett, J.H. Duncan, Croucher, Peter I., Evangelou, Evangelos, Uitterlinden, Andre G., Ackert-Bicknell, Cheryl L., Tobias, Jonathan H., Evans, David M., Rivadeneira, Fernando

“…Bone mineral density (BMD) assessed by DXA is used to evaluate bone health. In children, total body (TB) measurements are commonly used; in older individuals,…”
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