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Page 1
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE. Herold KG, et al. Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624. Handb Exp Pharmacol. 2023. PMID: 36598608 Free PMC article. Review.
The first mutations identified within CACNA1C were shown to cause a severe, multisystem disorder known as Timothy syndrome (TS), which is characterized by neurodevelopmental deficits, long-QT syndrome, life-threatening cardiac arrhythmias, craniofacial abnormalities …
The first mutations identified within CACNA1C were shown to cause a severe, multisystem disorder known as Timothy syndrome (TS …
Human cerebral organoids - a new tool for clinical neurology research.
Eichmüller OL, Knoblich JA. Eichmüller OL, et al. Nat Rev Neurol. 2022 Nov;18(11):661-680. doi: 10.1038/s41582-022-00723-9. Epub 2022 Oct 17. Nat Rev Neurol. 2022. PMID: 36253568 Free PMC article. Review.
We discuss different methodologies for producing organoids and how organoids can be and have been used to model neurological disorders, including microcephaly, Zika virus infection, Alzheimer disease and other neurodegenerative disorders, and neurodevelopmental diseases, such as …
We discuss different methodologies for producing organoids and how organoids can be and have been used to model neurological disorders, incl …
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M. Hedley PL, et al. Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Hum Mutat. 2009. PMID: 19862833 Review.
The latter includes Jervell and Lange-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). The genetics are further complicated by the occurrence of double and triple heterozygotes in LQTS and a considerable number of nonpathogenic rare polymo …
The latter includes Jervell and Lange-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). The genetics …
Timothy syndrome iPSC modeling.
Bekdash R, Klein AD, Yazawa M. Bekdash R, et al. Mol Cell Neurosci. 2020 Sep;107:103529. doi: 10.1016/j.mcn.2020.103529. Epub 2020 Jul 3. Mol Cell Neurosci. 2020. PMID: 32629111 Review.
Particular gain-of-function mutations in CACNA1C encoding Ca(V)1.2 have been associated with Timothy Syndrome, a devastating disease with a multi-organ phenotype. Efforts to understand the underlying pathophysiology and find therapeutic strategy have been spurred re …
Particular gain-of-function mutations in CACNA1C encoding Ca(V)1.2 have been associated with Timothy Syndrome, a devastating d …
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C, Zhang Y. Jiang C, et al. Expert Rev Mol Med. 2023 May 3;25:e17. doi: 10.1017/erm.2023.11. Expert Rev Mol Med. 2023. PMID: 37132248 Free PMC article. Review.
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. ...
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchro …
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K. Zenker M, et al. Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37065762 Free PMC article. Review.
Turner, Kabuki, and Costello syndromes), congenital disorders of glycosylation, and syndromic channelopathies (e.g. Timothy syndrome). This article reviews syndromic conditions that have been asserted by the literature to be associated with CHI. ...
Turner, Kabuki, and Costello syndromes), congenital disorders of glycosylation, and syndromic channelopathies (e.g. Timothy syndro …
Voltage-Gated Calcium Channels in Nonexcitable Tissues.
Pitt GS, Matsui M, Cao C. Pitt GS, et al. Annu Rev Physiol. 2021 Feb 10;83:183-203. doi: 10.1146/annurev-physiol-031620-091043. Epub 2020 Oct 26. Annu Rev Physiol. 2021. PMID: 33106102 Free PMC article. Review.
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome, a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted roles for the L-type voltage-gated Ca(2+) channel Ca(V)1.2 in nonexcitable cells. ...
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome, a rare disorder characterized b …
Deciphering the physiopathology of neurodevelopmental disorders using brain organoids.
Dionne O, Sabatié S, Laurent B. Dionne O, et al. Brain. 2025 Jan 7;148(1):12-26. doi: 10.1093/brain/awae281. Brain. 2025. PMID: 39222411 Free PMC article. Review.
Fragile X syndrome, Rett syndrome, Angelman syndrome, microlissencephaly, Prader-Willi syndrome, Timothy syndrome, tuberous sclerosis syndrome) and elucidate their pathophysiology. We also discuss the benefits and limitations of employing such innovative 3D models c …
Fragile X syndrome, Rett syndrome, Angelman syndrome, microlissencephaly, Prader-Willi syndrome, Timothy syndrome, tuberous sc …
Genetics of long QT syndrome.
Tester DJ, Ackerman MJ. Tester DJ, et al. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33. doi: 10.14797/mdcj-10-1-29. Methodist Debakey Cardiovasc J. 2014. PMID: 24932360 Free PMC article. Review.
In addition, three atypical LQTS or multisystem syndromic disorders that have been associated with QT prolongation have been described, including ankyrin-B syndrome, Anderson-Tawil syndrome (ATS), and Timothy syndrome (TS). Genetic testing for LQTS is recommended in …
In addition, three atypical LQTS or multisystem syndromic disorders that have been associated with QT prolongation have been described, incl …
Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.
Betzenhauser MJ, Pitt GS, Antzelevitch C. Betzenhauser MJ, et al. Curr Mol Pharmacol. 2015;8(2):133-42. doi: 10.2174/1874467208666150518114857. Curr Mol Pharmacol. 2015. PMID: 25981977 Free PMC article. Review.
In this review, we discuss the current state of knowledge regarding these mutations present in Timothy Syndrome, Long and Short QT Syndromes, Brugada Syndrome and Early Repolarization Syndrome. ...
In this review, we discuss the current state of knowledge regarding these mutations present in Timothy Syndrome, Long and Shor …
32 results