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1995 1
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582 results

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Page 1
CACNA1D-Related Channelopathies: From Hypertension to Autism.
Ortner NJ. Ortner NJ. Handb Exp Pharmacol. 2023;279:183-225. doi: 10.1007/164_2022_626. Handb Exp Pharmacol. 2023. PMID: 36592224 Review.
This review provides a concise summary of disease-associated CACNA1D variants, whereas the main focus lies on de novo germline variants found in individuals with a neurodevelopmental disorder of variable severity. ...Taken together, due to advances in diagnostic sequencing …
This review provides a concise summary of disease-associated CACNA1D variants, whereas the main focus lies on de novo germline varian …
De novo CACNA1D Ca(2+) channelopathies: clinical phenotypes and molecular mechanism.
Ortner NJ, Kaserer T, Copeland JN, Striessnig J. Ortner NJ, et al. Pflugers Arch. 2020 Jul;472(7):755-773. doi: 10.1007/s00424-020-02418-w. Epub 2020 Jun 24. Pflugers Arch. 2020. PMID: 32583268 Free PMC article. Review.
The identification of rare disease-causing variants in humans by large-scale next-generation sequencing (NGS) studies has also provided us with new insights into the pathophysiological role of de novo missense variants in the CACNA1D gene that encodes the pore-forming alph …
The identification of rare disease-causing variants in humans by large-scale next-generation sequencing (NGS) studies has also provided us w …
Dominant role of CACNA1D exon mutations for blood pressure regulation.
Wang H, Zhu JK, Cheng L, Mao G, Chen H, Wu X, Hong H, Wang C, Lin P, Chen J, Maboh RN, Chen H. Wang H, et al. J Hypertens. 2022 Apr 1;40(4):819-834. doi: 10.1097/HJH.0000000000003085. J Hypertens. 2022. PMID: 35142739
METHODS: The rats with CACNA1D p.D307G, CACNA1D p.V936I or CACNA1D p.R1516Q were constructed using CRISPR-Cas9 technology. ...CONCLUSION: CACNA1D gene is key players in the regulation of blood pressure. CACNA1D mutation rat may be a new hyperten …
METHODS: The rats with CACNA1D p.D307G, CACNA1D p.V936I or CACNA1D p.R1516Q were constructed using CRISPR-Cas9 technolo …
CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation.
McKerr N, Mohd-Sarip A, Dorrian H, Breen C, A James J, McQuaid S, Mills IG, McCloskey KD. McKerr N, et al. Sci Rep. 2023 Mar 22;13(1):4683. doi: 10.1038/s41598-023-28693-y. Sci Rep. 2023. PMID: 36949059 Free PMC article.
Nifedipine, Bay K 8644 (Ca(V)1.3 inhibitor, activator), mibefradil, Ni(2+) (Ca(V)3.2 inhibitors) and high K(+) depolarising solution were employed. CACNA1D and Ca(V)1.3 protein are overexpressed in prostate tumours and CACNA1D was overexpressed in androgen-sensitive …
Nifedipine, Bay K 8644 (Ca(V)1.3 inhibitor, activator), mibefradil, Ni(2+) (Ca(V)3.2 inhibitors) and high K(+) depolarising solution were em …
Genetics of Primary Aldosteronism.
Scholl UI. Scholl UI. Hypertension. 2022 May;79(5):887-897. doi: 10.1161/HYPERTENSIONAHA.121.16498. Epub 2022 Feb 10. Hypertension. 2022. PMID: 35139664 Free PMC article. Review.
More than 90% of aldosterone-producing adenomas carry somatic mutations in K(+) channel Kir3.4 (KCNJ5), Ca(2+) channel Ca(V)1.3 (CACNA1D), alpha-1 subunit of the Na(+)/K(+) ATPase (ATP1A1), plasma membrane Ca(2+) transporting ATPase 3 (ATP2B3), Ca(2+) channel Ca(V)3.2 (CAC …
More than 90% of aldosterone-producing adenomas carry somatic mutations in K(+) channel Kir3.4 (KCNJ5), Ca(2+) channel Ca(V)1.3 (CACNA1D …
Ca(v) 1.3 (CACNA1D) L-type Ca(2+) channel dysfunction in CNS disorders.
Pinggera A, Striessnig J. Pinggera A, et al. J Physiol. 2016 Oct 15;594(20):5839-5849. doi: 10.1113/JP270672. Epub 2016 Feb 29. J Physiol. 2016. PMID: 26842699 Free PMC article. Review.
Recent findings provide evidence that human mutations in the CACNA1D gene can confer risk for the development of neuropsychiatric disease and perhaps also epilepsy. ...Indeed, whole exome sequencing studies, originally prompted to identify mutations in primary aldosteronis …
Recent findings provide evidence that human mutations in the CACNA1D gene can confer risk for the development of neuropsychiatric dis …
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S. Giri D, et al. J Pediatr Endocrinol Metab. 2021 Sep 21;35(3):279-296. doi: 10.1515/jpem-2021-0369. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34547194 Review.
Mutations in 16 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, KCNQ1, CACNA1D, FOXA2, EIF2S3, PGM1 and PMM2) that are involved in regulating the insulin secretion from pancreatic beta-cells have been described to be responsible for …
Mutations in 16 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, KCNQ1, CACNA1D, FOXA2, EIF2S3 …
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.
Alzahrani A, Alshalan M, Alfurayh M, Bin Akrish A, Alsubeeh NA, Al Mutairi F. Alzahrani A, et al. Front Neurol. 2023 Apr 14;14:1131490. doi: 10.3389/fneur.2023.1131490. eCollection 2023. Front Neurol. 2023. PMID: 37122292 Free PMC article.
We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutation in CACNA1D in a family with a history of neuropsychiatric disorders. We also review the clinical and molecular phenotype of previou …
We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutatio …
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Kessi M, et al. Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. Orphanet J Rare Dis. 2021. PMID: 33985586 Free PMC article. Review.
Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD. ...
Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, …
CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals.
Stanton AM, Heydarpour M, Williams JS, Williams GH, Adler GK. Stanton AM, et al. Hypertension. 2023 Dec;80(12):2665-2673. doi: 10.1161/HYPERTENSIONAHA.123.21229. Epub 2023 Oct 17. Hypertension. 2023. PMID: 37846579 Free article.
BACKGROUND: Disease-causing mutations in CACNA1D gene occur in aldosterone-producing adenomas and familial hyperaldosteronism. We determined whether single nucleotide polymorphisms in CACNA1D gene associate with higher aldosterone resulting in salt sensitivity of bl …
BACKGROUND: Disease-causing mutations in CACNA1D gene occur in aldosterone-producing adenomas and familial hyperaldosteronism. We det …
582 results