Universität zu Köln

Marbach, Felix ORCID: 0000-0003-3953-6235, Stoyanov, Georgi, Erger, Florian ORCID: 0000-0002-2768-1702, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah ORCID: 0000-0001-9906-4968, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martinez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya ORCID: 0000-0003-2172-8036, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber and Schaaf, Christian P. (2021). Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet. Med., 23 (8). S. 1465 - 1474. LONDON: SPRINGERNATURE. ISSN 1530-0366

Full text not available from this repository.

Abstract

Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Marbach, Felix UNSPECIFIED orcid.org/0000-0003-3953-6235 UNSPECIFIED Stoyanov, Georgi UNSPECIFIED UNSPECIFIED UNSPECIFIED Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Stratakis, Constantine A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Settas, Nikolaos UNSPECIFIED UNSPECIFIED UNSPECIFIED London, Edra UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenfeld, Jill A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Torti, Erin UNSPECIFIED UNSPECIFIED UNSPECIFIED Haldeman-Englert, Chad UNSPECIFIED UNSPECIFIED UNSPECIFIED Sklirou, Evgenia UNSPECIFIED UNSPECIFIED UNSPECIFIED Kessler, Elena UNSPECIFIED UNSPECIFIED UNSPECIFIED Ceulemans, Sophia UNSPECIFIED UNSPECIFIED UNSPECIFIED Nelson, Stanley F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Martinez-Agosto, Julian A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Palmer, Christina G. S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Signer, Rebecca H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Acosta, Maria T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Adam, Margaret UNSPECIFIED UNSPECIFIED UNSPECIFIED Adams, David R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Agrawal, Pankaj B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Alejandro, Mercedes E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Alvey, Justin UNSPECIFIED UNSPECIFIED UNSPECIFIED Amendola, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Andrews, Ashley UNSPECIFIED UNSPECIFIED UNSPECIFIED Ashley, Euan A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Azamian, Mahshid S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bacino, Carlos A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bademci, Guney UNSPECIFIED UNSPECIFIED UNSPECIFIED Baker, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Balasubramanyam, Ashok UNSPECIFIED UNSPECIFIED UNSPECIFIED Baldridge, Dustin UNSPECIFIED UNSPECIFIED UNSPECIFIED Bale, Jim UNSPECIFIED UNSPECIFIED UNSPECIFIED Bamshad, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Barbouth, Deborah UNSPECIFIED UNSPECIFIED UNSPECIFIED Bayrak-Toydemir, Pinar UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Anita UNSPECIFIED UNSPECIFIED UNSPECIFIED Beggs, Alan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Behrens, Edward UNSPECIFIED UNSPECIFIED UNSPECIFIED Bejerano, Gill UNSPECIFIED UNSPECIFIED UNSPECIFIED Bennett, Jimmy UNSPECIFIED UNSPECIFIED UNSPECIFIED Berg-Rood, Beverly UNSPECIFIED UNSPECIFIED UNSPECIFIED Bernstein, Jonathan A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Berry, Gerard T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bican, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Bivona, Stephanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Blue, Elizabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Bohnsack, John UNSPECIFIED UNSPECIFIED UNSPECIFIED Bonnenmann, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Bonner, Devon UNSPECIFIED UNSPECIFIED UNSPECIFIED Botto, Lorenzo UNSPECIFIED UNSPECIFIED UNSPECIFIED Boyd, Brenna UNSPECIFIED UNSPECIFIED UNSPECIFIED Briere, Lauren C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brokamp, Elly UNSPECIFIED UNSPECIFIED UNSPECIFIED Brown, Gabrielle UNSPECIFIED UNSPECIFIED UNSPECIFIED Burke, Elizabeth A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Burrage, Lindsay C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Butte, Manish J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Byers, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Byrd, William E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Carey, John UNSPECIFIED UNSPECIFIED UNSPECIFIED Carrasquillo, Olveen UNSPECIFIED UNSPECIFIED UNSPECIFIED Chang, Ta Chen Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Chanprasert, Sirisak UNSPECIFIED UNSPECIFIED UNSPECIFIED Chao, Hsiao-Tuan UNSPECIFIED UNSPECIFIED UNSPECIFIED Clark, Gary D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Coakley, Terra R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cobban, Laurel A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cogan, Joy D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Coggins, Matthew UNSPECIFIED UNSPECIFIED UNSPECIFIED Cole, F. Sessions UNSPECIFIED UNSPECIFIED UNSPECIFIED Colley, Heather A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cooper, Cynthia M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cope, Heidi UNSPECIFIED UNSPECIFIED UNSPECIFIED Craigen, William J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Crouse, Andrew B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cunningham, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED D'Souza, Precilla UNSPECIFIED UNSPECIFIED UNSPECIFIED Dai, Hongzheng UNSPECIFIED UNSPECIFIED UNSPECIFIED Dasari, Surendra UNSPECIFIED UNSPECIFIED UNSPECIFIED Davis, Joie UNSPECIFIED UNSPECIFIED UNSPECIFIED Daya, Jyoti G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Deardorff, Matthew UNSPECIFIED UNSPECIFIED UNSPECIFIED Dell'Angelica, Esteban C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dhar, Shweta U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Dipple, Katrina UNSPECIFIED UNSPECIFIED UNSPECIFIED Doherty, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED Dorrani, Naghmeh UNSPECIFIED UNSPECIFIED UNSPECIFIED Doss, Argenia L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Douine, Emilie D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Draper, David D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Duncan, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Earl, Dawn UNSPECIFIED UNSPECIFIED UNSPECIFIED Eckstein, David J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Emrick, Lisa T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eng, Christine M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Esteves, Cecilia UNSPECIFIED UNSPECIFIED UNSPECIFIED Falk, Marni UNSPECIFIED UNSPECIFIED UNSPECIFIED Fernandez, Liliana UNSPECIFIED UNSPECIFIED UNSPECIFIED Ferreira, Carlos UNSPECIFIED UNSPECIFIED UNSPECIFIED Fieg, Elizabeth L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Findley, Laurie C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fisher, Paul G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fogel, Brent L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Forghani, Irman UNSPECIFIED UNSPECIFIED UNSPECIFIED Fresard, Laure UNSPECIFIED UNSPECIFIED UNSPECIFIED Gahl, William A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Glass, Ian UNSPECIFIED UNSPECIFIED UNSPECIFIED Gochuico, Bernadette UNSPECIFIED UNSPECIFIED UNSPECIFIED Godfrey, Rena A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Golden-Grant, Katie UNSPECIFIED UNSPECIFIED UNSPECIFIED Goldman, Alica M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Goldrich, Madison P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Goldstein, David B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Grajewski, Alana UNSPECIFIED UNSPECIFIED UNSPECIFIED Groden, Catherine A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gutierrez, Irma UNSPECIFIED UNSPECIFIED UNSPECIFIED Hahn, Sihoun UNSPECIFIED UNSPECIFIED UNSPECIFIED Hamid, Rizwan UNSPECIFIED UNSPECIFIED UNSPECIFIED Hanchard, Neil A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hassey, Kelly UNSPECIFIED UNSPECIFIED UNSPECIFIED Hayes, Nichole UNSPECIFIED UNSPECIFIED UNSPECIFIED High, Frances UNSPECIFIED UNSPECIFIED UNSPECIFIED Hing, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Hisama, Fuki M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Holm, Ingrid A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hom, Jason UNSPECIFIED UNSPECIFIED UNSPECIFIED Horike-Pyne, Martha UNSPECIFIED UNSPECIFIED UNSPECIFIED Huang, Alden UNSPECIFIED UNSPECIFIED UNSPECIFIED Huang, Yong UNSPECIFIED UNSPECIFIED UNSPECIFIED Huryn, Laryssa UNSPECIFIED UNSPECIFIED UNSPECIFIED Isasi, Rosario UNSPECIFIED UNSPECIFIED UNSPECIFIED Jamal, Fariha UNSPECIFIED UNSPECIFIED UNSPECIFIED Jarvik, Gail P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jarvik, Jeffrey UNSPECIFIED UNSPECIFIED UNSPECIFIED Jayadev, Suman UNSPECIFIED UNSPECIFIED UNSPECIFIED Karaviti, Lefkothea UNSPECIFIED UNSPECIFIED UNSPECIFIED Kennedy, Jennifer UNSPECIFIED UNSPECIFIED UNSPECIFIED Kiley, Dana UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohane, Isaac S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kohler, Jennefer N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Korrick, Susan UNSPECIFIED UNSPECIFIED UNSPECIFIED Kozuira, Mary UNSPECIFIED UNSPECIFIED UNSPECIFIED Krakow, Deborah UNSPECIFIED orcid.org/0000-0001-9906-4968 UNSPECIFIED Krasnewich, Donna M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kravets, Elijah UNSPECIFIED UNSPECIFIED UNSPECIFIED Krier, Joel B. UNSPECIFIED UNSPECIFIED UNSPECIFIED LaMoure, Grace L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lalani, Seema R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lam, Byron UNSPECIFIED UNSPECIFIED UNSPECIFIED Lam, Christina UNSPECIFIED UNSPECIFIED UNSPECIFIED Lanpher, Brendan C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lanza, Ian R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Latham, Lea UNSPECIFIED UNSPECIFIED UNSPECIFIED LeBlanc, Kimberly UNSPECIFIED UNSPECIFIED UNSPECIFIED Lee, Brendan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lee, Hane UNSPECIFIED UNSPECIFIED UNSPECIFIED Levitt, Roy UNSPECIFIED UNSPECIFIED UNSPECIFIED Lewis, Richard A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lincoln, Sharyn A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Liu, Pengfei UNSPECIFIED UNSPECIFIED UNSPECIFIED Liu, Xue Zhong UNSPECIFIED UNSPECIFIED UNSPECIFIED Longo, Nicola UNSPECIFIED UNSPECIFIED UNSPECIFIED Loo, Sandra K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Loscalzo, Joseph UNSPECIFIED UNSPECIFIED UNSPECIFIED Maas, Richard L. UNSPECIFIED UNSPECIFIED UNSPECIFIED MacDowall, John UNSPECIFIED UNSPECIFIED UNSPECIFIED MacRae, Calum A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Macnamara, Ellen F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Maduro, Valerie V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Majcherska, Marta M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mak, Bryan C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Malicdan, May Christine V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mamounas, Laura A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Manolio, Teri A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mao, Rong UNSPECIFIED UNSPECIFIED UNSPECIFIED Maravilla, Kenneth UNSPECIFIED UNSPECIFIED UNSPECIFIED Markello, Thomas C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Marom, Ronit UNSPECIFIED UNSPECIFIED UNSPECIFIED Marth, Gabor UNSPECIFIED UNSPECIFIED UNSPECIFIED Martin, Beth A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Martin, Martin G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Martinez-Agosto, Julian A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Marwaha, Shruti UNSPECIFIED UNSPECIFIED UNSPECIFIED McCauley, Jacob UNSPECIFIED UNSPECIFIED UNSPECIFIED McConkie-Rosell, Allyn UNSPECIFIED UNSPECIFIED UNSPECIFIED McCormack, Colleen E. UNSPECIFIED UNSPECIFIED UNSPECIFIED McCray, Alexa T. UNSPECIFIED UNSPECIFIED UNSPECIFIED McGee, Elisabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Mefford, Heather UNSPECIFIED UNSPECIFIED UNSPECIFIED Merritt, J. Lawrence UNSPECIFIED UNSPECIFIED UNSPECIFIED Might, Matthew UNSPECIFIED UNSPECIFIED UNSPECIFIED Mirzaa, Ghayda UNSPECIFIED UNSPECIFIED UNSPECIFIED Morava, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Moretti, Paolo M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Moretti, Paolo UNSPECIFIED UNSPECIFIED UNSPECIFIED Mosbrook-Davis, Deborah UNSPECIFIED UNSPECIFIED UNSPECIFIED Mulvihill, John J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Murdock, David R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nagy, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Nakano-Okuno, Mariko UNSPECIFIED UNSPECIFIED UNSPECIFIED Nath, Avi UNSPECIFIED UNSPECIFIED UNSPECIFIED Nelson, Stanley F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Newman, John H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nicholas, Sarah K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Nickerson, Deborah UNSPECIFIED UNSPECIFIED UNSPECIFIED Nieves-Rodriguez, Shirley UNSPECIFIED UNSPECIFIED UNSPECIFIED Novacic, Donna UNSPECIFIED UNSPECIFIED UNSPECIFIED Oglesbee, Devin UNSPECIFIED UNSPECIFIED UNSPECIFIED Orengo, James P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pace, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Pak, Stephen UNSPECIFIED UNSPECIFIED UNSPECIFIED Pallais, J. Carl UNSPECIFIED UNSPECIFIED UNSPECIFIED Palmer, Christina G. S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Papp, Jeanette C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Parker, Neil H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Phillips, John A., III UNSPECIFIED UNSPECIFIED UNSPECIFIED Posey, Jennifer E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Potocki, Lorraine UNSPECIFIED UNSPECIFIED UNSPECIFIED Power, Bradley UNSPECIFIED UNSPECIFIED UNSPECIFIED Pusey, Barbara N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Quinlan, Aaron UNSPECIFIED UNSPECIFIED UNSPECIFIED Raja, Archana N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rao, Deepak A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Raskind, Wendy UNSPECIFIED UNSPECIFIED UNSPECIFIED Renteria, Genecee UNSPECIFIED UNSPECIFIED UNSPECIFIED Reuter, Chloe M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rives, Lynette UNSPECIFIED UNSPECIFIED UNSPECIFIED Robertson, Amy K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rodan, Lance H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenfeld, Jill A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenwasser, Natalie UNSPECIFIED UNSPECIFIED UNSPECIFIED Rossignol, Francis UNSPECIFIED UNSPECIFIED UNSPECIFIED Ruzhnikov, Maura UNSPECIFIED UNSPECIFIED UNSPECIFIED Sacco, Ralph UNSPECIFIED UNSPECIFIED UNSPECIFIED Sampson, Jacinda B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Samson, Susan L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Saporta, Mario UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaechter, Judy UNSPECIFIED UNSPECIFIED UNSPECIFIED Schedl, Timothy UNSPECIFIED UNSPECIFIED UNSPECIFIED Schoch, Kelly UNSPECIFIED UNSPECIFIED UNSPECIFIED Scott, C. Ron UNSPECIFIED UNSPECIFIED UNSPECIFIED Scott, Daryl A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Shashi, Vandana UNSPECIFIED UNSPECIFIED UNSPECIFIED Shin, Jimann UNSPECIFIED UNSPECIFIED UNSPECIFIED Signer, Rebecca H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Silverman, Edwin K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sinsheimer, Janet S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sisco, Kathy UNSPECIFIED UNSPECIFIED UNSPECIFIED Smith, Edward C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Smith, Kevin S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Solem, Emily UNSPECIFIED UNSPECIFIED UNSPECIFIED Solnica-Krezel, Lilianna UNSPECIFIED UNSPECIFIED UNSPECIFIED Spillmann, Rebecca C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Stoler, Joan M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sullivan, Jennifer A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sullivan, Kathleen UNSPECIFIED UNSPECIFIED UNSPECIFIED Sun, Angela UNSPECIFIED UNSPECIFIED UNSPECIFIED Sutton, Shirley UNSPECIFIED UNSPECIFIED UNSPECIFIED Sweetser, David A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sybert, Virginia UNSPECIFIED UNSPECIFIED UNSPECIFIED Tabor, Holly K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tan, Amelia L. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tan, Queenie K. -G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tekin, Mustafa UNSPECIFIED UNSPECIFIED UNSPECIFIED Telischi, Fred UNSPECIFIED UNSPECIFIED UNSPECIFIED Thorson, Willa UNSPECIFIED UNSPECIFIED UNSPECIFIED Thurm, Audrey UNSPECIFIED UNSPECIFIED UNSPECIFIED Tifft, Cynthia J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Toro, Camilo UNSPECIFIED UNSPECIFIED UNSPECIFIED Tran, Alyssa A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tucker, Brianna M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Urv, Tiina K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Vanderver, Adeline UNSPECIFIED UNSPECIFIED UNSPECIFIED Velinder, Matt UNSPECIFIED UNSPECIFIED UNSPECIFIED Viskochil, Dave UNSPECIFIED UNSPECIFIED UNSPECIFIED Vogel, Tiphanie P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wahl, Colleen E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Walker, Melissa UNSPECIFIED UNSPECIFIED UNSPECIFIED Wallace, Stephanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Walley, Nicole M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Walsh, Chris A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wambach, Jennifer UNSPECIFIED UNSPECIFIED UNSPECIFIED Wan, Jijun UNSPECIFIED UNSPECIFIED UNSPECIFIED Wang, Lee-kai UNSPECIFIED UNSPECIFIED UNSPECIFIED Wangler, Michael F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ward, Patricia A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wegner, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED Wener, Mark UNSPECIFIED UNSPECIFIED UNSPECIFIED Wenger, Tara UNSPECIFIED UNSPECIFIED UNSPECIFIED Perry, Katherine Wesseling UNSPECIFIED UNSPECIFIED UNSPECIFIED Westerfield, Monte UNSPECIFIED UNSPECIFIED UNSPECIFIED Wheeler, Matthew T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Whitlock, Jordan UNSPECIFIED UNSPECIFIED UNSPECIFIED Wolfe, Lynne A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Woods, Jeremy D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yamamoto, Shinya UNSPECIFIED orcid.org/0000-0003-2172-8036 UNSPECIFIED Yang, John UNSPECIFIED UNSPECIFIED UNSPECIFIED Yousef, Muhammad UNSPECIFIED UNSPECIFIED UNSPECIFIED Zastrow, Diane B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zein, Wadih UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhao, Chunli UNSPECIFIED UNSPECIFIED UNSPECIFIED Zuchner, Stephan UNSPECIFIED UNSPECIFIED UNSPECIFIED Andrews, Marisa V. UNSPECIFIED UNSPECIFIED UNSPECIFIED Grange, Dorothy K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Willaert, Rebecca UNSPECIFIED UNSPECIFIED UNSPECIFIED Person, Richard UNSPECIFIED UNSPECIFIED UNSPECIFIED Telegrafi, Aida UNSPECIFIED UNSPECIFIED UNSPECIFIED Sievers, Aaron UNSPECIFIED UNSPECIFIED UNSPECIFIED Laugsch, Magdalena UNSPECIFIED UNSPECIFIED UNSPECIFIED Theiss, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Cheng, YuZhu UNSPECIFIED UNSPECIFIED UNSPECIFIED Lichtarge, Olivier UNSPECIFIED UNSPECIFIED UNSPECIFIED Katsonis, Panagiotis UNSPECIFIED UNSPECIFIED UNSPECIFIED Stocco, Amber UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaaf, Christian P. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-607318
DOI:	10.1038/s41436-021-01152-7
Journal or Publication Title:	Genet. Med.
Volume:	23
Number:	8
Page Range:	S. 1465 - 1474
Date:	2021
Publisher:	SPRINGERNATURE
Place of Publication:	LONDON
ISSN:	1530-0366
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PROTEIN-KINASE-A; REGULATORY SUBUNIT; MUTATION; MICE; PKA Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/60731