| CACNA1H restrains chemotherapy resistance in ovarian clear cell carcinoma cells by repressing autophagy. | CACNA1H restrains chemotherapy resistance in ovarian clear cell carcinoma cells by repressing autophagy.
Shi H, Zheng L, Jiang X, Chen H. | 08/19/2024 |
| Genetic variants and down-regulation of CACNA1H in pheochromocytoma. | Genetic variants and down-regulation of CACNA1H in pheochromocytoma.
Svahn F, Solhusløkk Höse K, Stenman A, Liu Y, Calissendorff J, Tham E, Végvári Á, Zubarev RA, Wang N, Korah R, Carling T, Zedenius J, Bränström R, Juhlin CC, Larsson C., Free PMC Article | 08/2/2024 |
| The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury. | The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury.
Zheng Q, Li X, Xu X, Tang X, Hammad B, Xing J, Zhang D. | 05/8/2024 |
| Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes. | Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Maksemous N, Harder AVE, Ibrahim O, Vijfhuizen LS, Sutherland H, Pelzer N, de Boer I, Terwindt GM, Lea RA, van den Maagdenberg AMJM, Griffiths LR., Free PMC Article | 04/26/2023 |
| The T-type calcium channel CaV3.2 regulates insulin secretion in the pancreatic beta-cell. | The T-type calcium channel Ca(V)3.2 regulates insulin secretion in the pancreatic β-cell.
Barghouth M, Ye Y, Karagiannopoulos A, Ma Y, Cowan E, Wu R, Eliasson L, Renström E, Luan C, Zhang E. | 12/10/2022 |
| Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia. | Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia.
Mustafá ER, Gambeta E, Stringer RN, Souza IA, Zamponi GW, Weiss N., Free PMC Article | 11/26/2022 |
| Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified. | Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.
Liedtke W., Free PMC Article | 10/1/2022 |
| A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism. | A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism.
Tseng CS, Peng KY, Wang SM, Tsai YC, Huang KH, Lin WC, Hu YH, Wu VC, Chueh JS., Free PMC Article | 07/2/2022 |
| Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp. | Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.
Souza IA, Gandini MA, Zamponi GW., Free PMC Article | 04/9/2022 |
| De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy. | De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Stringer RN, Jurkovicova-Tarabova B, Souza IA, Ibrahim J, Vacik T, Fathalla WM, Hertecant J, Zamponi GW, Lacinova L, Weiss N., Free PMC Article | 02/5/2022 |
| CACNA1H variants are not a cause of monogenic epilepsy. | CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD, Huffman AM, Bellinski I, Kinsley L, Bachman E, Gerard E, Kearney JA, Carvill GL., Free PMC Article | 11/6/2021 |
| The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study. | The prognosis of epilepsy patients with CACNA1H missense variants: A longitudinal cohort study.
Wei Z, Liu C, Wu Z, Cao M, Qiao X, Han T, Zhang Y, Liu Y, Deng Y. | 09/18/2021 |
| Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp? | Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Huang M, Nibbeling EAR, Lagrand TJ, Souza IA, Groen JL, Gandini MA, Zhang FX, Koelman JHTM, Adir N, Sinke RJ, Zamponi GW, Tijssen MAJ, Verbeek DS., Free PMC Article | 09/4/2021 |
| Functional identification of potential non-canonical N-glycosylation sites within Cav3.2 T-type calcium channels. | Functional identification of potential non-canonical N-glycosylation sites within Ca(v)3.2 T-type calcium channels.
Ficelova V, Souza IA, Cmarko L, Gandini MA, Stringer RN, Zamponi GW, Weiss N., Free PMC Article | 08/7/2021 |
| Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma. | Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma.
Nanba K, Blinder AR, Rege J, Hattangady NG, Else T, Liu CJ, Tomlins SA, Vats P, Kumar-Sinha C, Giordano TJ, Rainey WE., Free PMC Article | 02/27/2021 |
| Cellular Pathophysiology of Mutant Voltage-Dependent Ca2+ Channel CACNA1H in Primary Aldosteronism. | Cellular Pathophysiology of Mutant Voltage-Dependent Ca2+ Channel CACNA1H in Primary Aldosteronism.
Gürtler F, Jordan K, Tegtmeier I, Herold J, Stindl J, Warth R, Bandulik S. | 02/6/2021 |
| A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity. | A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca(v)3.2 T-type channel activity.
Stringer RN, Jurkovicova-Tarabova B, Huang S, Haji-Ghassemi O, Idoux R, Liashenko A, Souza IA, Rzhepetskyy Y, Lacinova L, Van Petegem F, Zamponi GW, Pamphlett R, Weiss N., Free PMC Article | 02/6/2021 |
| The present work shows that the exacerbated expression of Cdk5 in a preclinical model of neuropathic pain increases the functional expression of CaV3.2 channels | Cdk5-Dependent Phosphorylation of Ca(V)3.2 T-Type Channels: Possible Role in Nerve Ligation-Induced Neuropathic Allodynia and the Compound Action Potential in Primary Afferent C Fibers.
Gomez K, Calderón-Rivera A, Sandoval A, González-Ramírez R, Vargas-Parada A, Ojeda-Alonso J, Granados-Soto V, Delgado-Lezama R, Felix R., Free PMC Article | 07/18/2020 |
| Five children with CACNA1H gene mutations exhibited phenotypes consisting of generalized, focal, and multifocal epilepsy ranging in severity from mild to severe intractable epilepsy. The spectrum of CACNA1H mutations can involve other organ systems (immunologic and gastrointestinal) in addition to epilepsy, developmental delay, and autism. | Expanding the Phenotypic Spectrum of CACNA1H Mutations.
Chourasia N, Ossó-Rivera H, Ghosh A, Von Allmen G, Koenig MK. | 06/6/2020 |
| dysregulation of USP5 SUMOylation after peripheral nerve injury may contribute to the well described alteration in Cav3.2 channel activity | SUMOylation regulates USP5-Cav3.2 calcium channel interactions.
Garcia-Caballero A, Zhang FX, Chen L, M'Dahoma S, Huang J, Zamponi GW., Free PMC Article | 06/6/2020 |
| Molecular studies incriminated different genes, mainly CACNA1H and MAST4. Since at least 2 susceptibility genes were likely shared by different populations, genetic factors involved in the majority of Tunisian Genetic generalized epilepsies families remain to be discovered. | Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
Landoulsi Z, Laatar F, Noé E, Mrabet S, Ben Djebara M, Achaz G, Nava C, Baulac S, Kacem I, Gargouri-Berrechid A, Gouider R, Leguern E. | 09/28/2019 |
| The enhanced Cav3.2 activity in neuroendocrine-like cells may contribute to increased secretion of mitogenic factors essential for androgen-independent proliferation of surrounding prostate cancer cells | [Role of Ca(v)3.2 T-type Ca(2+) channels in prostate cancer cells].
Sekiguchi F, Kawabata A. | 09/21/2019 |
| these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on diabetic peripheral neuropathy (DPN) . | Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population.
Sun L, Ma J, Mao Q, Yang YL, Ma LL, Niu L, Liu LF., Free PMC Article | 03/9/2019 |
| These findings reveal spectrin (alpha/beta) / ankyrin B cytoskeletal and signaling proteins as key regulators of T-type calcium channels expressed in the nervous system. | T-type calcium channels functionally interact with spectrin (α/β) and ankyrin B.
Garcia-Caballero A, Zhang FX, Hodgkinson V, Huang J, Chen L, Souza IA, Cain S, Kass J, Alles S, Snutch TP, Zamponi GW., Free PMC Article | 10/27/2018 |
| In colonic biopsies, the Cav3.2 mRNA level was significantly higher in the irritable bowel syndrome group compared to controls. | Colonic overexpression of the T-type calcium channel Ca(v) 3.2 in a mouse model of visceral hypersensitivity and in irritable bowel syndrome patients.
Scanzi J, Accarie A, Muller E, Pereira B, Aissouni Y, Goutte M, Joubert-Zakeyh J, Picard E, Boudieu L, Mallet C, Gelot A, Ardid D, Carvalho FA, Dapoigny M. | 02/10/2018 |