Výsledky vyhledávání - "CACNA1D gene"

Akademický článek

Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review

Autor: Alshaimaa Alzahrani, Maha Alshalan, Mohammed Alfurayh, Abdulaziz Bin Akrish, Najlaa A. Alsubeeh, Fuad Al Mutairi

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

BackgroundCalcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We deli

Externí odkaz: https://doaj.org/article/7031d07d400a4fdc9017f3283953b37c

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Akademický článek

Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways

Autor: Zsófia Flóra Nagy, Balázs Sonkodi, Margit Pál, Péter Klivényi, Márta Széll

Publikováno v: Biomedicines, Vol 11, Iss 3, p 933 (2023)

Amyotrophic lateral sclerosis (ALS) is a lethal multisystem neurodegenerative disease associated with progressive loss of motor neurons, leading to death. Not only is the clinical picture of ALS heterogenous, but also the pain sensation due to differ

Externí odkaz: https://doaj.org/article/6d35a7b3ab6c4e21a7d63fd30f3fddbc

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Akademický článek

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De novo CACAN1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism

Autor: Jörg Striessnig, Teresa Kaserer, Nadine J. Ortner, J. Nathan Copeland

Publikováno v: Pflugers Archiv
Pflugers Arch

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 encode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527c173e852e7c34920306ddb286d84
https://doi.org/10.1007/s00424-020-02418-w

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Possible protective influence of KCNJ5 and CACNA1D gene polymorphisms on lipid profile in primary aldosteronism and essential hypertensive patients

Autor: Katarzyna Bogunia-Kubik, Grzegorz Mazur, Anna Jodkowska, Weronika Korzynska

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ccca6e5c3d36c40b8e820771f7149f3a
https://doi.org/10.1530/endoabs.70.aep57

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Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D

Autor: Ruth Sheffer, Jussara Hagen, Josue A. Lopez, Vardiella Meiner, Edgar Garza-Lopez, Amy S. Lee

Publikováno v: Journal of Biological Chemistry. 293:14444-14454

Voltage-gated Cav Ca2+ channels play crucial roles in regulating gene transcription, neuronal excitability, and synaptic transmission. Natural or pathological variations in Cav channels have yielded rich insights into the molecular determinants contr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d413299975656e99a29eed7ff44e7776
https://doi.org/10.1074/jbc.ra118.003681

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Cav1.3 (CACNA1D) L-type Ca2+channel dysfunction in CNS disorders

Autor: Jörg Striessnig, Alexandra Pinggera

Publikováno v: The Journal of Physiology. 594:5839-5849

Cav 1.3 belongs to the family of voltage-gated L-type Ca2+ channels and is encoded by the CACNA1D gene. Cav 1.3 channels are not only essential for cardiac pacemaking, hearing and hormone secretion but are also expressed postsynaptically in neurons,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::49604a9f20e7f96abc8c71284e06f551
https://doi.org/10.1113/jp270672

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Cav1.3 channel α1D protein is overexpressed and modulates androgen receptor transactivation in prostate cancers11This work was partially supported by grants from DoD PCRP program (W81XWH-09-1-0455) and KUMC Valk Foundation to Dr Benyi Li, and grants from China Natural Science Foundation to Dr Benyi Li (NSFC #81172427) and Dr Jun Yang (NSFC #81101927). This project was also supported by the 'Chutian Scholar' program funded by Hubei Province of China dedicated to China Three Gorges University

Autor: Xiangxing Kuang, Ruibao Chen, Xing Zeng, Ossama Tawfik, Ruitao Zhang, Jihong Liu, Jiaoti Huang, James Brantley Thrasher, Benyi Li, Jun Yang

Publikováno v: Urologic Oncology: Seminars and Original Investigations. 32:524-536

Widespread use of L -type calcium channel blockers for treating hypertension has led to multiple epidemiologic studies to assess the risk of prostate cancer incidence. These studies revealed a reverse correlation between the likelihood of prostate ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f45c8c5b001e17ce6ad51bda2e9f6c16
https://doi.org/10.1016/j.urolonc.2013.05.011

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The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene

Autor: T. V. Strokova, N. N. Taran, O. R. Ryzhkova, N. A. Semenova

Publikováno v: Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 118:49

Germline mutations in CACNA1D cause the primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome (OMIM# 615474) characterized by primary aldosteronism, seizures and neurological abnormalities. The authors present a case-report o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d40e5804b7715f6711b8c2953707c8
https://doi.org/10.17116/jnevro201811812149

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