Academic literature on the topic 'CACNA1A gene'
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Journal articles on the topic "CACNA1A gene"
Gawel, Kinga, Waldemar A. Turski, Wietske van der Ent, Benan J. Mathai, Karolina J. Kirstein-Smardzewska, Anne Simonsen, and Camila V. Esguerra. "Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene." Molecular Neurobiology 57, no. 4 (December 26, 2019): 1904–16. http://dx.doi.org/10.1007/s12035-019-01860-x.
Full textMiao, Qing-Long, Stefan Herlitze, Melanie D. Mark, and Jeffrey L. Noebels. "Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms." Brain 143, no. 1 (December 4, 2019): 161–74. http://dx.doi.org/10.1093/brain/awz365.
Full textBolte, Kristen N., Melissa Assaf, Tamara Zach, and Shubhangi Peche. "Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations." Child Neurology Open 9 (January 2022): 2329048X2210949. http://dx.doi.org/10.1177/2329048x221094977.
Full textMaksemous, Neven, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, and Lyn R. Griffiths. "Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia." Biomedicines 8, no. 5 (May 25, 2020): 134. http://dx.doi.org/10.3390/biomedicines8050134.
Full textIsaacs, David Alan, Michael J. Bradshaw, Kelly Brown, and Peter Hedera. "Case report of novel CACNA1A gene mutation causing episodic ataxia type 2." SAGE Open Medical Case Reports 5 (January 1, 2017): 2050313X1770604. http://dx.doi.org/10.1177/2050313x17706044.
Full textMannerak, Mari Aaroe, Aslan Lashkarivand, and Per Kristian Eide. "Trigeminal neuralgia and genetics: A systematic review." Molecular Pain 17 (January 2021): 174480692110161. http://dx.doi.org/10.1177/17448069211016139.
Full textSjöstrand, C., V. Giedratis, K. Ekbom, E. Waldenlind, and J. Hillert. "CACNA1A Gene Polymorphisms in Cluster Headache." Cephalalgia 21, no. 10 (December 2001): 953–58. http://dx.doi.org/10.1046/j.1468-2982.2001.00281.x.
Full textThomsen, LL, E. Oestergaard, A. Bjornsson, H. Stefansson, AC Fasquel, J. Gulcher, K. Stefansson, and J. Olesen. "Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine Patients." Cephalalgia 28, no. 9 (September 2008): 914–21. http://dx.doi.org/10.1111/j.1468-2982.2008.01599.x.
Full textHaan, J., JA van Vliet, EE Kors, GM Terwindt, FLMG Vermeulen, AMJM van den Maagdenberg, RR Frants, and MD Ferrari. "No Involvement of the Calcium Channel Gene (CACNA1A) in a Family with Cluster Headache." Cephalalgia 21, no. 10 (December 2001): 959–62. http://dx.doi.org/10.1046/j.1468-2982.2001.00283.x.
Full textCleves, C., S. Parikh, AD Rothner, and SJ Tepper. "Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: Hypothesis, family genealogy, gene typing and classification." Cephalalgia 30, no. 6 (August 1, 2009): 740–43. http://dx.doi.org/10.1111/j.1468-2982.2009.01958.x.
Full textDissertations / Theses on the topic "CACNA1A gene"
Curtain, Robert, and n/a. "Candidate Gene Analysis of Migraine Susceptibility Regions on Chromosome 1q and 19p." Griffith University. School of Medical Science, 2006. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20070810.132610.
Full textCurtain, Robert. "Candidate Gene Analysis of Migraine Susceptibility Regions on Chromosome 1q and 19p." Thesis, Griffith University, 2006. http://hdl.handle.net/10072/365960.
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Doctor of Philosophy (PhD)
School of Medical Science
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Naylor, Margaret Jane. "The genomic organisation and the expression of the calcium ion channel Ã1-subunit gene CACNA1F." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ48030.pdf.
Full textBauerle, Erin Ruane. "ASSOCIATION OF MASSETER MUSCLE CACNA2D1, CACNA1S, GABARAP, AND TRPM7 GENE EXPRESSION IN TEMPOROMANDIBULAR JOINT DISORDERS." Master's thesis, Temple University Libraries, 2016. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/392863.
Full textM.S.
A major physiological risk factor of temporomandibular disorders (TMD) is sensitization of peripheral and central nervous system pain processing pathways. Calcium channel, voltage-dependent, alpha-2/delta subunit-1 (CACNA2D1) has a crucial role in relaying nociceptive information in the spinal dorsal horn. Up-regulation of CACNA2D1 results in abnormal excitatory synapse formation and enhanced presynaptic excitatory neurotransmitter release. Blocking CACNA2D1 with gabapentinoid-class drugs relieves orofacial hypersensitivity. Drs. Foley, Horton, and Sciote previously reported that in a small sample group (n=12), CACNA2D1 expression was greater in males than females, but increased in women with TMD. The objectives of this study are to corroborate these data and investigate expression patterns of other ion channel and conducting system genes. Additionally, since the null polymorphism ACTN3-577XX associates with muscle fiber microdamage during eccentric contraction, we tested for possible gene associations with ACTN3-R577XX genotypes. Masseter muscle samples came from human subjects (n=23 male; 48 female) with malocclusions undergoing orthognathic surgery. This population had skeletal disharmony of the jaws and thus was prone to eccentric contraction. Three males and eighteen females were diagnosed with localized masticatory myalgia. Muscle total RNA was isolated and CACNA2D1, CACNA1S, GABARAP, and TRPM7 expression was quantified using RT-PCR. Expression of these genes were compared based on TMD status and various characteristics that may influence TMD including: sex, age, facial symmetry, sagittal dimension, vertical dimension, ACTN3-577 genotype and fiber type. CACNA2D1 expression differed significantly between sexes, overall (p<0.02), and without TMD (p=0.001). Women with (n=13) and without (n=23) TMD differed significantly (p<0.03). CACNA2D1 expression was also significantly higher (p=0.031) in subjects below age 25. Similarly, GABARAP expression was significantly higher (p=0.001) for patients younger than 25 and for patients less than or equal to age 18 (p=0.013). Otherwise, CACNA1S, TRPM7 and GABARAP differences were not significant. GABARAP expression differed, but not significantly by sex and for the ACTN3-577XX-null genotype. In a population of malocclusion patients, masseter muscle CACNA2D1 expression is significantly higher than CACNA1S, TRPM7, and GABARAP. CACNA2D1 expression is greater in males than females without TMD. However, CACNA2D1 expression increases significantly in females with TMD-associated myalgia. This may support evidence for calcium channel regulation of nociception differences seen between sexes in TMD. It was also found that expression of CACNA2D1 and GABARAP is significantly higher in younger subjects. Additionally, observations presented here suggest potential influence of ACTN3-null condition on function of GABARAP.
Temple University--Theses
Michels, Susanne [Verfasser], and Carsten [Akademischer Betreuer] Culmsee. "The psychiatric risk gene Cacna1c regulates mitochondrial function in cellular stress responses / Susanne Michels ; Betreuer: Carsten Culmsee." Marburg : Philipps-Universität Marburg, 2019. http://d-nb.info/1193177561/34.
Full textSykes, Lucy Helen. "The role of L-type voltage gated calcium channels and psychiatric risk gene CACNA1C in associative learning." Thesis, Cardiff University, 2016. http://orca.cf.ac.uk/98747/.
Full textGarg, Sumedha. "Role of two genes, CACNA1D and CADM1, with common or rare mutations in aldosterone producing adenomas of the adrenal." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/289390.
Full textMette, Miriam [Verfasser], and Andreas [Akademischer Betreuer] Jansen. "Der Einfluss des Einzelnukleotidpolymorphismus rs1006737 des Gens CACNA1C auf neuronale Korrelate des Arbeitsgedächtnisses - Eine Studie mit funktioneller Magnetresonanztomographie / Miriam Mette. Betreuer: Andreas Jansen." Marburg : Philipps-Universität Marburg, 2014. http://d-nb.info/1051935164/34.
Full textHänninen, S. L. (Sandra Lynn). "Transcriptional control of muscle cell excitation-contraction coupling:the role of activity and mitochondrial function." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222790.
Full textTiivistelmä Sydän- ja luustolihassolujen supistuminen on seurausta ärsytys-supistuskytkennästä (ECC), jossa sähköinen ärsytys kohottaa solunsisäistä kalsiumpitoisuutta ja aiheuttaa supistuksen. Tätä säädellään tarkasti fysiologisen tarpeen mukaan, ja se riippuu riittävästä energian saannista. Häiriintynyt ECC voi aiheuttaa vakavia seurauksia lihassolujen toiminnalle, ja se on mukana monien sydän- ja luustolihasten sairauksien synnyssä. Tässä tutkimuksessa ECC:n transkriptionaalista säätelyä tutkittiin luustolihasten ja sydämen lihassoluissa. Luustolihassolujen kalsekvestriinin (CASQ1) väheneminen pienensi SR:n Ca2+-määrää mitokondrioiden myopatian hiirimallissa ja heikensi Ca2+-tasapainon ylläpitoa Tfam-/--luustolihassoluissa. Viljellyissä vastasyntyneiden kammio-sydänlihassoluissa mitokondrio-irtikytkijän FCCP:n aiheuttama mitokondrioiden toimintahäiriö johti sydämen kalsekvestriinin (CASQ2) vähenemiseen ja heikensi samalla tavalla Ca2+-tasapainon ylläpitoa. Vaikka Tfam-/--myosyyteissä reaktiivisten happilajien (ROS) tasot eivät olleet koholla, FCCP:lle altistetuissa viljellyissä soluissa ROS kuitenkin lisääntyi. Vaikutusta esti ROS-puhdistaja NAC, joka heikensi FCCP:n aiheuttamaa CASQ2:n laskua ja palautti Ca2+-säätelyn normaaliksi. Mitokondrioiden toimintahäiriö siis johti CASQ1/2:n vähenemiseen ja Ca2+-säätelyn heikentymiseen molemmissa solutyypeissä, mutta eri mekanismeilla. Tässä tutkimuksessa tarkasteltiin myös Ca2+-dynamiikan osuutta Ca2+-tasapainoon osallistuvien geenien transkription säätelyssä. Lisääntynyt solunsisäinen Ca2+-taso ja sydänlihassolujen β-adrenerginen stimulointi aktivoivat Ca2+-kalmoduliinikinaasi II:n (CaMKII), ja ne voivat laukaista sydämen hypertrofisen uudelleenmuovautumisen. Havaittiin, että CaMKII vähensi L-tyypin Ca2+-kanavan a1c-alayksikön (Cacna1c) ilmentymistä viljellyissä sydänlihassoluissa. Promoottorianalyysi osoitti tämän johtuvan transkription repressorin DREAM:n sitoutumisesta oletettuun DRE:hen (alavirrassa sijaitseva säätelyelementti). Nämä tulokset tuovat uutta tietoa lihassolujen energiatalouden ja SR:n Ca2+:n vaikuttavien proteiinien transkription säätelyn vuorovaikutuksesta. Lisäksi havaittiin ainutlaatuinen Cacna1c-transkription säätelyn reitti, johon osallistuvat CaMKII ja DREAM
Delvecchio, Giuseppe. "The functional impact of CACNA1C and ANK3 risk genes for bipolar disorder on brain regional activation during emotional and cognitive tasks in healthy individuals, BD patients and their unaffected first-degree relatives." Thesis, King's College London (University of London), 2015. https://kclpure.kcl.ac.uk/portal/en/theses/the-functional-impact-of-cacna1c-and-ank3-risk-genes-for-bipolar-disorder-on-brain-regional-activation-during-emotional-and-cognitive-tasks-in-healthy-individuals-bd-patients-and-their-unaffected-firstdegree-relatives(8c4eb3b7-2bd9-47f6-851d-8aaaadd38ef0).html.
Full textBook chapters on the topic "CACNA1A gene"
Zahid, Sarwar, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, and Thiran Jayasundera. "CACNA1F." In Retinal Dystrophy Gene Atlas, 43–46. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-10867-4_14.
Full textHussain, Khalid, and Sonya Galcheva. "Hyperinsulinaemic Hypoglycaemia." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple, 1879–86. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0232.
Full textPelzer, Nadine, Tobias Freilinger, and Gisela M. Terwindt. "Hemiplegic migraine and other monogenic migraine subtypes and syndromes." In Oxford Textbook of Headache Syndromes, edited by Michel Ferrari, Joost Haan, Andrew Charles, David W. Dodick, Fumihiko Sakai, and Christopher Kennard, 75–91. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198724322.003.0008.
Full textMartínez-Barrios, Estefanía, José Cruzalegui, Sergi Cesar, Fredy Chipa, Elena Arbelo, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada, and Oscar Campuzano. "Short QT Syndrome: Update on Genetic Basis." In Rare Diseases - Recent Advances [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106808.
Full textConference papers on the topic "CACNA1A gene"
Mammadova, Dilbar, Cornelia Kraus, Thomas Leis, and Regina Trollmann. "Severe Epileptic Encephalopathy in Siblings due to a Novel Heterozygous CACNA1A Gene Mutation." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698222.
Full textCarvalho, Gabriel Leal, Isadora Ghilardi, Allan Alcará, Felipe Rodrigues, Ângela Zanatta, Giovani Zocche, Giulia Pinzetta, et al. "Gene expression of calcium channel CACNA1H in epileptogenesis can be modulated by mesenchymal stem cells." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.593.
Full textSilva, Vitoria Pimentel da, Laura Provenzi, Nicole Becker, Giovani Zocche, Gabriel Leal, Giulia Pinzetta, Allan Alcará, et al. "Mesenchymal stem cells modulate the gene expression of T- type Calcium Channel Subunit Alpha 1G (Cav3.1) in acute phase of epilepsy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.709.
Full textBellini, B., J. Galli, C. Izzi, M. Iascone, A. Molinaro, L. Pinelli, G. Savoldi, I. Tesic, and E. Fazzi. "A Novel X-linked Mutation of CACNA1F Gene in Two Male Siblings Presenting Nystagmus." In Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique). Georg Thieme Verlag KG, 2022. http://dx.doi.org/10.1055/s-0042-1746217.
Full textChica-Parrado, Maria Rosario, Julio Montes-Torres, Cynthia Robles-Podadera, Martina Alvarez, Jose Jerez, Luis Vicioso, Lidia Pérez-Villa, et al. "Abstract P1-10-26: Gene expression levels of DTX3, CACNA1G, IL11, ETV4 and TSPAN7 selected by LASSO penalty regression could predict pCR after neoadjuvant chemotherapy in breast cancer tumors." In Abstracts: 2019 San Antonio Breast Cancer Symposium; December 10-14, 2019; San Antonio, Texas. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.sabcs19-p1-10-26.
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