TrpC3 Regulates Hypertrophy-Associated Gene Expression without Affecting Myocyte Beating or Cell Size

por Brenner, Jacob S., Dolmetsch, Ricardo E.
Publicado 2007

Calcium Imaging of Cortical Neurons using Fura-2 AM

por Barreto-Chang, Odmara L, Dolmetsch, Ricardo E
Publicado 2009

PIKfyve regulates Ca(V)1.2 degradation and prevents excitotoxic cell death

por Tsuruta, Fuminori, Green, Eric M., Rousset, Matthieu, Dolmetsch, Ricardo E.
Publicado 2009

Using iPS cells to investigate cardiac phenotypes in patients with Timothy Syndrome

por Yazawa, Masayuki, Hsueh, Brian, Jia, Xiaolin, Pasca, Anca M., Bernstein, Jonathan A., Hallmayer, Joachim, Dolmetsch, Ricardo E.
Publicado 2011

Timothy Syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

por Krey, Jocelyn F., Pasca, Sergiu P., Shcheglovitov, Aleksandr, Yazawa, Masayuki, Schwemberger, Rachel, Rasmusson, Randall, Dolmetsch, Ricardo E.
Publicado 2013

Alternative splicing converts STIM2 from an activator to an inhibitor of store-operated calcium channels

por Rana, Anshul, Yen, Michelle, Sadaghiani, Amir Masoud, Malmersjö, Seth, Park, Chan Young, Dolmetsch, Ricardo E., Lewis, Richard S.
Publicado 2015

Molecular evaluation and vector integration analysis of HCC complicating AAV gene therapy for hemophilia B

por Schmidt, Manfred, Foster, Graham R., Coppens, Michiel, Thomsen, Hauke, Dolmetsch, Ricardo, Heijink, Liesbeth, Monahan, Paul E., Pipe, Steven W.
Publicado 2023

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome

por Tian, Yuan, Voineagu, Irina, Paşca, Sergiu P, Won, Hyejung, Chandran, Vijayendran, Horvath, Steve, Dolmetsch, Ricardo E, Geschwind, Daniel H
Publicado 2014

A Promoter in the Coding Region of the Calcium Channel Gene CACNA1C Generates the Transcription Factor CCAT

por Gomez-Ospina, Natalia, Panagiotakos, Georgia, Portmann, Thomas, Pasca, Sergiu P., Rabah, Dania, Budzillo, Agata, Kinet, Jean Pierre, Dolmetsch, Ricardo E.
Publicado 2013

Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome

por Panagiotakos, Georgia, Haveles, Christos, Arjun, Arpana, Petrova, Ralitsa, Rana, Anshul, Portmann, Thomas, Paşca, Sergiu P, Palmer, Theo D, Dolmetsch, Ricardo E
Publicado 2019

Apelin Enhances Directed Cardiac Differentiation of Mouse and Human Embryonic Stem Cells

por Wang, I-Ning E., Wang, Xiang, Ge, Xiaohu, Anderson, Joshua, Ho, Michael, Ashley, Euan, Liu, Jianwei, Butte, Manish J., Yazawa, Masayuki, Dolmetsch, Ricardo E., Quertermous, Thomas, Yang, Phillip C.
Publicado 2012

Humanistic Burden of Huntington Disease: Evidence From the Huntington Disease Burden of Illness Study

por Rodriguez Santana, Idaira, Frank, Samuel, Doherty, Maria, Willock, Rosa, Hamilton, Jamie, Hubberstey, Hayley, Stanley, Cath, Vetter, Louise, Winkelmann, Michaela, Dolmetsch, Ricardo E., Li, Nanxin, Ratsch, Sarah, Ali, Talaha M.
Publicado 2022

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

por Roth, Julien G, Muench, Kristin L, Asokan, Aditya, Mallett, Victoria M, Gai, Hui, Verma, Yogendra, Weber, Stephen, Charlton, Carol, Fowler, Jonas L, Loh, Kyle M, Dolmetsch, Ricardo E, Palmer, Theo D
Publicado 2020

Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome

por Paşca, Sergiu P., Portmann, Thomas, Voineagu, Irina, Yazawa, Masayuki, Shcheglovitov, Oleksandr, Paşca, Anca M., Cord, Branden, Palmer, Theo D., Chikahisa, Sachiko, Seiji, Nishino, Bernstein, Jonathan A., Hallmayer, Joachim, Geschwind, Daniel H., Dolmetsch, Ricardo E.
Publicado 2011

Stable and durable factor IX levels in patients with hemophilia B over 3 years after etranacogene dezaparvovec gene therapy

por von Drygalski, Annette, Gomez, Esteban, Giermasz, Adam, Castaman, Giancarlo, Key, Nigel S., Lattimore, Susan U., Leebeek, Frank W. G., Miesbach, Wolfgang A., Recht, Michael, Gut, Robert, Dolmetsch, Ricardo, Monahan, Paul E., Le Quellec, Sandra, Pipe, Steven W.
Publicado 2022

The carboxy-terminal fragment of α(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells

por Ishiguro, Taro, Ishikawa, Kinya, Takahashi, Makoto, Obayashi, Masato, Amino, Takeshi, Sato, Nozomu, Sakamoto, Masaki, Fujigasaki, Hiroto, Tsuruta, Fuminori, Dolmetsch, Ricardo, Arai, Takao, Sasaki, Hidenao, Nagashima, Kazuro, Kato, Takeo, Yamada, Mitsunori, Takahashi, Hitoshi, Hashizume, Yoshio, Mizusawa, Hidehiro
Publicado 2009

Cytoplasmic Location of α1A Voltage-Gated Calcium Channel C-Terminal Fragment (Ca(v)2.1-CTF) Aggregate Is Sufficient to Cause Cell Death

por Takahashi, Makoto, Obayashi, Masato, Ishiguro, Taro, Sato, Nozomu, Niimi, Yusuke, Ozaki, Kokoro, Mogushi, Kaoru, Mahmut, Yasen, Tanaka, Hiroshi, Tsuruta, Fuminori, Dolmetsch, Ricardo, Yamada, Mitsunori, Takahashi, Hitoshi, Kato, Takeo, Mori, Osamu, Eishi, Yoshinobu, Mizusawa, Hidehiro, Ishikawa, Kinya
Publicado 2013

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene

por Kostic, Milos, Raymond, Joseph J., Freyre, Christophe A. C., Henry, Beata, Tumkaya, Tayfun, Khlghatyan, Jivan, Dvornik, Jill, Li, Jingyao, Hsiao, Jack S., Cheon, Seon Hye, Chung, Jonathan, Sun, Yishan, Dolmetsch, Ricardo E., Worringer, Kathleen A., Ihry, Robert J.
Publicado 2023

Evaluating the state of the science for adeno-associated virus integration: An integrated perspective

por Sabatino, Denise E., Bushman, Frederic D., Chandler, Randy J., Crystal, Ronald G., Davidson, Beverly L., Dolmetsch, Ricardo, Eggan, Kevin C., Gao, Guangping, Gil-Farina, Irene, Kay, Mark A., McCarty, Douglas M., Montini, Eugenio, Ndu, Adora, Yuan, Jing
Publicado 2022

A deleterious Na(v)1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

por Sun, Yishan, Paşca, Sergiu P, Portmann, Thomas, Goold, Carleton, Worringer, Kathleen A, Guan, Wendy, Chan, Karen C, Gai, Hui, Vogt, Daniel, Chen, Ying-Jiun J, Mao, Rong, Chan, Karrie, Rubenstein, John LR, Madison, Daniel V, Hallmayer, Joachim, Froehlich-Santino, Wendy M, Bernstein, Jonathan A, Dolmetsch, Ricardo E
Publicado 2016