Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Autor: Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar-Yosef, Frédéric Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn U. Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti-Furga, Isabelle Thiffault, Richard H. van Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hsiao-Tuan Chao, Gary D. Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa T. Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Ronit Marom, Paolo M. Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward Behrens, Matthew Deardorff, Marni Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie-Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith, Jennifer A. Sullivan, Queenie K.-G. Tan, Nicole M. Walley, Pankaj B. Agrawal, Alan H. Beggs, Gerard T. Berry, Lauren C. Briere, Laurel A. Cobban, Matthew Coggins, Cynthia M. Cooper, Elizabeth L. Fieg, Frances High, Ingrid A. Holm, Susan Korrick, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Deepak A. Rao, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Melissa Walker, Chris A. Walsh, Cecilia Esteves, Emily G. Kelley, Isaac S. Kohane, Kimberly LeBlanc, Alexa T. McCray, Anna Nagy, Surendra Dasari, Brendan C. Lanpher, Ian R. Lanza, Eva Morava, Devin Oglesbee, Guney Bademci, Deborah Barbouth, Stephanie Bivona, Olveen Carrasquillo, Ta Chen Peter Chang, Irman Forghani, Alana Grajewski, Rosario Isasi, Byron Lam, Roy Levitt, Xue Zhong Liu, Jacob McCauley, Ralph Sacco, Mario Saporta, Judy Schaechter, Mustafa Tekin, Fred Telischi, Willa Thorson, Stephan Zuchner, Heather A. Colley, Jyoti G. Dayal, David J. Eckstein, Laurie C. Findley, Donna M. Krasnewich, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Grace L. LaMoure, Madison P. Goldrich, Tiina K. Urv, Argenia L. Doss, Maria T. Acosta, Carsten Bonnenmann, Precilla D’Souza, David D. Draper, Carlos Ferreira, Rena A. Godfrey, Catherine A. Groden, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Avi Nath, Donna Novacic, Barbara N. Pusey, Camilo Toro, Colleen E. Wahl, Eva Baker, Elizabeth A. Burke, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, John Yang, Bradley Power, Bernadette Gochuico, Laryssa Huryn, Lea Latham, Joie Davis, Deborah Mosbrook-Davis, Francis Rossignol, null Ben Solomon, John MacDowall, Audrey Thurm, Wadih Zein, Muhammad Yousef, Margaret Adam, Laura Amendola, Michael Bamshad, Anita Beck, Jimmy Bennett, Beverly Berg-Rood, Elizabeth Blue, Brenna Boyd, Peter Byers, Sirisak Chanprasert, Michael Cunningham, Katrina Dipple, Daniel Doherty, Dawn Earl, Ian Glass, Katie Golden-Grant, Sihoun Hahn, Anne Hing, Fuki M. Hisama, Martha Horike-Pyne, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Christina Lam, Kenneth Maravilla, Heather Mefford, J. Lawrence Merritt, Ghayda Mirzaa, Deborah Nickerson, Wendy Raskind, Natalie Rosenwasser, C. Ron Scott, Angela Sun, Virginia Sybert, Stephanie Wallace, Mark Wener, Tara Wenger, Euan A. Ashley, Gill Bejerano, Jonathan A. Bernstein, Devon Bonner, Terra R. Coakley, Liliana Fernandez, Paul G. Fisher, Laure Fresard, Jason Hom, Yong Huang, Jennefer N. Kohler, Elijah Kravets, Marta M. Majcherska, Beth A. Martin, Shruti Marwaha, Colleen E. McCormack, Archana N. Raja, Chloe M. Reuter, Maura Ruzhnikov, Jacinda B. Sampson, Kevin S. Smith, Shirley Sutton, Holly K. Tabor, Brianna M. Tucker, Matthew T. Wheeler, Diane B. Zastrow, Chunli Zhao, William E. Byrd, Andrew B. Crouse, Matthew Might, Mariko Nakano-Okuno, Jordan Whitlock, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martin G. Martin, Julian A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves-Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Rebecca H. Signer, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Jeremy D. Woods, Justin Alvey, Ashley Andrews, Jim Bale, John Bohnsack, Lorenzo Botto, John Carey, Laura Pace, Nicola Longo, Gabor Marth, Paolo Moretti, Aaron Quinlan, Matt Velinder, Dave Viskochil, Pinar Bayrak-Toydemir, Rong Mao, Monte Westerfield, Anna Bican, Elly Brokamp, Laura Duncan, Rizwan Hamid, Jennifer Kennedy, Mary Kozuira, John H. Newman, John A. PhillipsIII, Lynette Rives, Amy K. Robertson, Emily Solem, Joy D. Cogan, F. Sessions Cole, Nichole Hayes, Dana Kiley, Kathy Sisco, Jennifer Wambach, Daniel Wegner, Dustin Baldridge, Stephen Pak, Timothy Schedl, Jimann Shin, Lilianna Solnica-Krezel, Eric Rush, Geoffrey S. Pitt, Ping Yee Billie Au

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (10), pp.1922-1932. ⟨10.1038/s41436-021-01232-8⟩
Genet Med
Genetics in Medicine, 2021, 23 (10), pp.1922-1932. ⟨10.1038/s41436-021-01232-8⟩

International audience; Purpose:CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d958043d95a3e41c92c40d48d9c8e622
https://pubmed.ncbi.nlm.nih.gov/34522029

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Rheology control of organic coatings with new hydrophobic silicas

Autor: U. Christ, A. Bittner

Publikováno v: Progress in Organic Coatings. 24:29-41

The rheological effects of hydrophobic pyrogenic silicas were examined using binder systems designed, in particular, for automobile top coats. Rheological measurements to characterize the flow behaviour, especially with regard to sagging, in the rele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9a186650111aed3434ba2daa821b120
https://doi.org/10.1016/0033-0655(94)85004-6

Comparison of typing results by serology and polymerase chain reaction with sequence-specific primers for HLA-Cw in 650 individuals

Autor: Joannis Mytilineos, Gerhard Opelz, M. Lempert, U. Christ

Publikováno v: Tissue antigens. 50(4)

HLA-Cw typing by standard serological techniques is associated with a high frequency of blanks, and reliable typing reagents for several of the Cw specificities are scarce. We evaluated the PCR-SSP technique for Cw typing in 370 kidney transplant pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0597f73459b939c8b934a7e7353a51
https://pubmed.ncbi.nlm.nih.gov/9349625

Abstracts of Papers Presented at The Bat-Sheva Seminar on Host — Fungus Interaction

Autor: A. M. Mayer, Y. Henis, J. G. H. Wessels, Talma Katan, Y. Koltin, Miriam M. L. So, B. Sneh, Meira Ichielevich-Auster, I. Shomer, M. S. Manocha, R. Balasubramanian, M. H. A. J. Joosten, P. J. G. M. De Wit, R. E. Niks, Paola Bonfante-Fasolo, J. Krikun, J. H. Haas, Sally E. Smith, F. Andrew Smith, J. Friedman, Anita S. Hutchins, D. Perry, Varda Kagan-Zur, Dvira Livne, Nurit Roth-Bejerano, Miriam M. L. SO, N. T. Keen, D. Kobayashi, S. Tamaki, P. Albersheim, P. Bucheli, Felice Cervone, A. Darvill, Giulia De Lorenzo, S. Doares, M. Hahn, R. O’Neill, Margalith Galun, I. Chet, H. R. Hohl, Sylvia Balsiger, M. Odermatt, Chantal Guggenbuehl, Leah Tsror, A. Nachmias, M. Perombelon, Z. Barak, I. Barash, G. Strubel, D. Kenfield, F. Sugawara, Y. Elad, Hanne VolpLn, Virginia Buchner, Y. Burstein, S. Nemec, B. Doneche, U. Matern, Hilke Wendorff, Daria Hamerski, E. Chalutz, S. Droby, C. L. Wilson, P. Ricci, Ph. Bonnet, J. C. Devergne, M. Bruneteau, J. C. Pernollet, F. Panabieres, F. Trentin, D. L. Gutnick, S. Loya, S. Bauer, Y. Aharonowitz, B. Moerschbacher, J. S. Ellis, P. Keenan, J. Friend, G. Wenzel, H. S. Chawla, F. Kohler, R. Schuchmann, Bärbel Foroughi-Wehr, J. Kuć, Mirjam Zilberstein, Y. Pinkas, J. KUć, Y. Cohen, Helena Eyal, J. Hanania, Z. Malik, R. N. Strange, Christine Edwards, Susan Richards, S. Ben-Yehoshua, S. Carmeli, B. Shapiro, Y. Sharoni, Y. Kashman, J. J. Kim, R. Moran, R. Cohen, J. Riov, N. Lisker, J. Katan, J. B. Heale, Ruth Bowen, Sara Movahedi, E. Roebroeck, R. Hoffman, K. Hahlbrock, D. Prusky, M. J. Butler, G. Lazarovits, Verna J. Higgins, R. N. Coo Ley, C. E. Caten, F. C. H. Franklin, R. K. Shaw, R. Reuveni, M. Shimoni, Z. Karchi, Beate Cuypers, Karin Hinze, E. Kombrink, E. Schmelzer, Orly Balass, R. ShapLra, A. B. Oppenheim, Y. Gafni, Y. Ophir, Shulamit Manulis, E. Epstein, Ellen Clark, D. E. Carling, S. Kuninaga, R. H. Leiner, S. Gold, M. Roberson, W. Fischer, P. Schweizer, U. Christ, E. Mösinger, K. Kovats, G. Baer, A. Binder, R. Fluhr, N. Shani, Y. Eyal, Tami Lotan, Yael Shemla, B. Q. Manicom, M. Bar-Joseph, A. Rosner, Hillela Vigodsky-Haas, J. M. Kotze

Publikováno v: Phytoparasitica. 16:179-213

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca09054cda9fcb5db682df5abcb45c8f
https://doi.org/10.1007/bf02980472