Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability

por Moore, Bryn S., Mirshahi, Tooraj
Publicado 2018

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

por Moore, Bryn S., Luo, Jonathan Z., Stepanchick, Ann N., Mirshahi, Tooraj
Publicado 2021

Inhibition of Transient Receptor Potential Melastatin 3 ion channels by G-protein βγ subunits

por Badheka, Doreen, Yudin, Yevgen, Borbiro, Istvan, Hartle, Cassandra M, Yazici, Aysenur, Mirshahi, Tooraj, Rohacs, Tibor
Publicado 2017

GWAS for the composite traits of hematuria and albuminuria

por Gagliano Taliun, Sarah A., Dinsmore, Ian R., Mirshahi, Tooraj, Chang, Alexander R., Paterson, Andrew D., Barua, Moumita
Publicado 2023

T-box3 is a ciliary protein and regulates stability of the Gli3 transcription factor to control digit number

por Emechebe, Uchenna, Kumar P, Pavan, Rozenberg, Julian M, Moore, Bryn, Firment, Ashley, Mirshahi, Tooraj, Moon, Anne M
Publicado 2016

Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2

por Hall, Allison R., Anderson, Corey L., Smith, Jennifer L., Mirshahi, Tooraj, Elayi, Claude S., January, Craig T., Delisle, Brian P.
Publicado 2018

The Phenotypic Spectrum of COL4A3 Heterozygotes

por Solanki, Kaushal V., Hu, Yirui, Moore, Bryn S., Abedi, Vida, Avula, Venkatesh, Mirshahi, Tooraj, Strande, Natasha T., Bucaloiu, Ion D., Chang, Alexander R.
Publicado 2023

The Phenotypic Spectrum of COL4A3 Heterozygotes

por Solanki, Kaushal V., Hu, Yirui, Moore, Bryn S., Abedi, Vida, Avula, Venkatesh, Mirshahi, Tooraj, Strande, Natasha T., Bucaloiu, Ion D., Chang, Alexander R.
Publicado 2023

Gastric Bypass Surgery Produces a Durable Reduction in Cardiovascular Disease Risk Factors and Reduces the Long‐Term Risks of Congestive Heart Failure

por Benotti, Peter N., Wood, G. Craig, Carey, David J., Mehra, Vishal C., Mirshahi, Tooraj, Lent, Michelle R., Petrick, Anthony T., Still, Christopher, Gerhard, Glenn S., Hirsch, Annemarie G.
Publicado 2017

Clinical factors associated with weight loss outcomes after Roux-en-Y gastric bypass surgery

por Still, Christopher D., Wood, G. Craig, Chu, Xin, Manney, Christina, Strodel, William, Petrick, Anthony, Gabrielsen, Jon, Mirshahi, Tooraj, Argyropoulos, George, Seiler, Jamie, Yung, Marco, Benotti, Peter, Gerhard, Glenn S.
Publicado 2014

A multi-component classifier for nonalcoholic fatty liver disease (NAFLD) based on genomic, proteomic, and phenomic data domains

por Wood, G. Craig, Chu, Xin, Argyropoulos, George, Benotti, Peter, Rolston, David, Mirshahi, Tooraj, Petrick, Anthony, Gabrielson, John, Carey, David J., DiStefano, Johanna K., Still, Christopher D., Gerhard, Glenn S.
Publicado 2017

CCL20 is up-regulated in non-alcoholic fatty liver disease fibrosis and is produced by hepatic stellate cells in response to fatty acid loading

por Chu, Xin, Jin, Qunyan, Chen, Hui, Wood, G. Craig, Petrick, Anthony, Strodel, William, Gabrielsen, Jon, Benotti, Peter, Mirshahi, Tooraj, Carey, David J., Still, Christopher D., DiStefano, Johanna K., Gerhard, Glenn S.
Publicado 2018

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

por Oetjens, Matthew T., Luo, Jonathan Z., Chang, Alexander, Leader, Joseph B., Hartzel, Dustin N., Moore, Bryn S., Strande, Natasha T., Kirchner, H. Lester, Ledbetter, David H., Justice, Anne E., Carey, David J., Mirshahi, Tooraj
Publicado 2020

Long-Term Weight-Loss in Gastric Bypass Patients Carrying Melanocortin 4 Receptor Variants

por Moore, Bryn S., Mirshahi, Uyenlinh L., Yost, Evan A., Stepanchick, Ann N., Bedrin, Michael D., Styer, Amanda M., Jackson, Kathryn K., Still, Christopher D., Breitwieser, Gerda E., Gerhard, Glenn S., Carey, David J., Mirshahi, Tooraj
Publicado 2014

All-Cause and Specific-Cause Mortality Risk After Roux-en-Y Gastric Bypass in Patients With and Without Diabetes

por Lent, Michelle R., Benotti, Peter N., Mirshahi, Tooraj, Gerhard, Glenn S., Strodel, William E., Petrick, Anthony T., Gabrielsen, Jon D., Rolston, David D., Still, Christopher D., Hirsch, Annemarie G., Zubair, Fahad, Cook, Adam, Carey, David J., Wood, G. Craig
Publicado 2017

Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals

por Gao, Chuan, Marcketta, Anthony, Backman, Joshua D., O'Dushlaine, Colm, Staples, Jeffrey, Ferreira, Manuel Allen Revez, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Mirshahi, Tooraj, Regeneron Genetics Center, Geisinger Regeneron Discovehr Collaboration, Baras, Aris, Abecasis, Gonçalo, Shuldiner, Alan R., Van Hout, Cristopher V., McCarthy, Shane
Publicado 2021

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants

por Namjou, Bahram, Stanaway, Ian B., Lingren, Todd, Mentch, Frank D., Benoit, Barbara, Dikilitas, Ozan, Niu, Xinnan, Shang, Ning, Shoemaker, Ashley H., Carey, David J., Mirshahi, Tooraj, Singh, Rajbir, Nestor, Jordan G., Hakonarson, Hakon, Denny, Joshua C., Crosslin, David R., Jarvik, Gail P., Kullo, Iftikhar J., Williams, Marc S., Harley, John B.
Publicado 2020

Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis

por Choi, Seung Hoan, Jurgens, Sean J., Haggerty, Christopher M., Hall, Amelia W., Halford, Jennifer L., Morrill, Valerie N., Weng, Lu-Chen, Lagerman, Braxton, Mirshahi, Tooraj, Pettinger, Mary, Guo, Xiuqing, Lin, Henry J., Alonso, Alvaro, Soliman, Elsayed Z., Kornej, Jelena, Lin, Honghuang, Moscati, Arden, Nadkarni, Girish N., Brody, Jennifer A., Wiggins, Kerri L., Cade, Brian E., Lee, Jiwon, Austin-Tse, Christina, Blackwell, Tom, Chaffin, Mark D., Lee, Christina J.-Y., Rehm, Heidi L., Roselli, Carolina, Redline, Susan, Mitchell, Braxton D., Sotoodehnia, Nona, Psaty, Bruce M., Heckbert, Susan R., Loos, Ruth J.F., Vasan, Ramachandran S., Benjamin, Emelia J., Correa, Adolfo, Boerwinkle, Eric, Arking, Dan E., Rotter, Jerome I., Rich, Stephen S., Whitsel, Eric A., Perez, Marco, Kooperberg, Charles, Fornwalt, Brandon K., Lunetta, Kathryn L., Ellinor, Patrick T., Lubitz, Steven A.
Publicado 2021

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

por Akbari, Parsa, Sosina, Olukayode A., Bovijn, Jonas, Landheer, Karl, Nielsen, Jonas B., Kim, Minhee, Aykul, Senem, De, Tanima, Haas, Mary E., Hindy, George, Lin, Nan, Dinsmore, Ian R., Luo, Jonathan Z., Hectors, Stefanie, Geraghty, Benjamin, Germino, Mary, Panagis, Lampros, Parasoglou, Prodromos, Walls, Johnathon R., Halasz, Gabor, Atwal, Gurinder S., Jones, Marcus, LeBlanc, Michelle G., Still, Christopher D., Carey, David J., Giontella, Alice, Orho-Melander, Marju, Berumen, Jaime, Kuri-Morales, Pablo, Alegre-Díaz, Jesus, Torres, Jason M., Emberson, Jonathan R., Collins, Rory, Rader, Daniel J., Zambrowicz, Brian, Murphy, Andrew J., Balasubramanian, Suganthi, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Cantor, Michael, Abecasis, Goncalo R., Ferreira, Manuel A. R., Sleeman, Mark W., Gusarova, Viktoria, Altarejos, Judith, Harris, Charles, Economides, Aris N., Idone, Vincent, Karalis, Katia, Della Gatta, Giusy, Mirshahi, Tooraj, Yancopoulos, George D., Melander, Olle, Marchini, Jonathan, Tapia-Conyer, Roberto, Locke, Adam E., Baras, Aris, Verweij, Niek, Lotta, Luca A.
Publicado 2022

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

por Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Publicado 2022