PMC Links for GEO Profiles (Select 79775629) - PMC

Links from GEO Profiles

Items: 1 to 20 of 94

<< First< Prev

Page of 5

Select item 104998211.

Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets

Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson

Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8

PMCID:: PMC10499821

Abstract Article PDF–2.6M

Select item 102892762.

High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy

Yuan Yin, Shuai Wu, Lingzhi Niu, Shiwei Huang

Invest Ophthalmol Vis Sci. 2023 Jun; 64(7): 32. Published online 2023 Jun 21. doi: 10.1167/iovs.64.7.32

PMCID:: PMC10289276

Abstract Article PDF–3.4M

Select item 94586803.

Clinical and genetic characterization of CACNA1A-related disease

Amy R. Lipman, Xiao Fan, Yufeng Shen, Wendy K. Chung

Clin Genet. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Clin Genet. 2022 Oct; 102(4): 288–295. Published online 2022 Jun 26. doi: 10.1111/cge.14180

PMCID:: PMC9458680

Abstract Article PDF–703K

Select item 88781534.

A Selectivity Filter Gate Controls Voltage-Gated Calcium Channel Calcium-Dependent Inactivation

Fayal Abderemane-Ali, Felix Findeisen, Nathan D. Rossen, Daniel L. Minor, Jr.

Neuron. Author manuscript; available in PMC 2022 Feb 25.

Published in final edited form as: Neuron. 2019 Mar 20; 101(6): 1134–1149.e3. Published online 2019 Feb 4. doi: 10.1016/j.neuron.2019.01.011

PMCID:: PMC8878153

Abstract Article PDF–2.0M

Select item 87020075.

Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report

Huiyan Luan, Lei Zhang, Sijin Zhang, Meng Zhang

Medicine (Baltimore) 2021 Dec 23; 100(51): e28141. Published online 2021 Dec 23. doi: 10.1097/MD.0000000000028141

PMCID:: PMC8702007

Abstract Article PDF–309K

Select item 85620046.

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Hossein Darvish, Abolfazl Movafagh

Orphanet J Rare Dis. 2021; 16: 461. Published online 2021 Nov 2. doi: 10.1186/s13023-021-02101-y

PMCID:: PMC8562004

Abstract Article PDF–1.4M

Select item 84843577.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

A. Arteche-López, MI. Álvarez-Mora, MT. Sánchez Calvin, JM. Lezana Rosales, C. Palma Milla, M. J. Gómez Rodríguez, I. Gomez Manjón, A. Blázquez, A. Juarez Rufián, P. Ramos Gómez, O. Sierra Tomillo, I. Hidalgo Mayoral, R. Pérez de la Fuente, IJ. Posada Rodríguez, LI. González Granado, Miguel A. Martin, JF. Quesada-Espinosa, M. Moreno-García

Eur J Hum Genet. 2021 Oct; 29(10): 1520–1526. Published online 2021 Jul 15. doi: 10.1038/s41431-021-00919-5

PMCID:: PMC8484357

Abstract Article PDF–708K

Select item 84616868.

Potential Novel Genes for Late-Onset Alzheimer’s Disease in East-Asian Descent Identified by APOE-Stratified Genome-Wide Association Study

Sarang Kang, Jungsoo Gim, Jiwoon Lee, Tamil Iniyan Gunasekaran, Kyu Yeong Choi, Jang Jae Lee, Eun Hyun Seo, Pan-Woo Ko, Ji Yeon Chung, Seong-Min Choi, Young Min Lee, Jee Hyang Jeong, Kyung Won Park, Min Kyung Song, Ho-Won Lee, Ki Woong Kim, Seong Hye Choi, Dong Young Lee, Sang Yun Kim, Hoowon Kim, Byeong C. Kim, Takeshi Ikeuchi, Kun Ho Lee

J Alzheimers Dis. 2021; 82(4): 1451–1460. Prepublished online 2021 Jun 18. Published online 2021 Aug 17. doi: 10.3233/JAD-210145

PMCID:: PMC8461686

Abstract Article PDF–396K

Select item 83172849.

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

Marina Romozzi, Guido Primiano, Eleonora Rollo, Lorena Travaglini, Paolo Calabresi, Serenella Servidei, Catello Vollono

J Headache Pain. 2021; 22(1): 85. Published online 2021 Jul 28. doi: 10.1186/s10194-021-01297-5

PMCID:: PMC8317284

Abstract Article PDF–855K

Select item 816503010.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 815362511.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano

Int J Mol Sci. 2021 May; 22(10): 5180. Published online 2021 May 13. doi: 10.3390/ijms22105180

PMCID:: PMC8153625

Abstract Article PDF–2.1M

Select item 801189412.

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Niccolò E. Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquin Campos, Gabriela Pino, Paulina Gonzalez-Latapi, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Pittman, Javier Simon-Sanchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, Apostolos Papandreou, Audrey Soo, Reet Rein, Liis Kadastik-Eerme, Sanna Puusepp, Karit Reinson, Tiiu Tomberg, Hasmet Hanagasi, Thomas Gasser, Kailash P. Bhatia, Manju A. Kurian, Ebba Lohmann, Katrin Õunap, Christian Rosenmund, Thomas C. Südhof, Nicholas W. Wood, Dimitri Krainc, Claudio Acuna

J Clin Invest. 2021 Apr 1; 131(7): e140625. Published online 2021 Apr 1. doi: 10.1172/JCI140625

PMCID:: PMC8011894

Abstract Article PDF–8.0M

Select item 787158113.

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Maria A. Gandini, Ivana A. Souza, Laurent Ferron, A. Micheil Innes, Gerald W. Zamponi

Mol Brain. 2021; 14: 27. Published online 2021 Feb 8. doi: 10.1186/s13041-021-00745-2

PMCID:: PMC7871581

Abstract Article PDF–2.4M

Select item 779086514.

Adrenergic Ca_V1.2 Activation via Rad Phosphorylation Converges at α_1C I-II Loop

Arianne Papa, Jared Kushner, Jessica A. Hennessey, Alexander N. Katchman, Sergey I. Zakharov, Bi-xing Chen, Lin Yang, Ree Lu, Stephen Leong, Johanna Diaz, Guoxia Liu, Daniel Roybal, Xianghai Liao, Pedro J. del Rivero Morfin, Henry M. Colecraft, Geoffrey S. Pitt, Oliver Clarke, Veli Topkara, Manu Ben-Johny, Steven O. Marx

Circ Res. Author manuscript; available in PMC 2022 Jan 8.

Published in final edited form as: Circ Res. 2021 Jan 8; 128(1): 76–88. Published online 2020 Oct 22. doi: 10.1161/CIRCRESAHA.120.317839

PMCID:: PMC7790865

Abstract Article PDF–2.1M

Select item 778917515.

A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels

Eder Gambeta, Maria A. Gandini, Ivana A. Souza, Laurent Ferron, Gerald W. Zamponi

Mol Brain. 2021; 14: 4. Published online 2021 Jan 7. doi: 10.1186/s13041-020-00725-y

PMCID:: PMC7789175

Abstract Article PDF–1.6M

Select item 771818416.

A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy

Josef Penkava, S. Ledderose, S. Chahrokh-Zadeh, A. Munzig, zu Eulenburg, D. Huppert, M. Strupp, S. Becker-Bense

J Neurol. 2020; 267(Suppl 1): 181–184. Published online 2020 Sep 10. doi: 10.1007/s00415-020-10190-1

PMCID:: PMC7718184

Article PDF–511K

Select item 747627517.

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine

Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen

J Med Genet. 2020 Sep; 57(9): 610–616. Published online 2020 Jan 24. doi: 10.1136/jmedgenet-2019-106640

PMCID:: PMC7476275

Abstract Article PDF–1.3M

Select item 731267318.

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Claudia Stendel, Maria Cristina D’Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia

Int J Mol Sci. 2020 Jun; 21(11): 3810. Published online 2020 May 27. doi: 10.3390/ijms21113810

PMCID:: PMC7312673

Abstract Article PDF–2.4M

Select item 725168319.

An elongated tract of polyQ in the carboxyl-terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation

Ji Sun, Xiguang Sun, Zhuo Li, Dihui Ma, Yudan Lv

Oncol Rep. 2020 Jul; 44(1): 156–164. Published online 2020 Apr 22. doi: 10.3892/or.2020.7592

PMCID:: PMC7251683

Abstract Article PDF–1.1M

Select item 721464820.

Stimulation of L‐type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells

Malvin Jefri, Scott Bell, Huashan Peng, Nuwan Hettige, Gilles Maussion, Vincent Soubannier, Hanrong Wu, Heika Silveira, Jean‐Francois Theroux, Luc Moquin, Xin Zhang, Zahia Aouabed, Jeyashree Krishnan, Liam A. O'Leary, Lilit Antonyan, Ying Zhang, Vincent McCarty, Naguib Mechawar, Alain Gratton, Andreas Schuppert, Thomas M. Durcan, Edward A. Fon, Carl Ernst

Stem Cells Transl Med. 2020 Jun; 9(6): 697–712. Published online 2020 Mar 10. doi: 10.1002/sctm.18-0180

PMCID:: PMC7214648

Abstract Article PDF–6.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 94

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity