Results 101 to 110 of about 2,519,053 (161)

Single-cell transcriptome deciphers key targets of thrombopoietin receptor agonists and immune microenvironment characteristics of immune thrombocytopenia

Platelets
Thrombopoietin receptor agonists (TPO-RAs) represent a cornerstone in immune thrombocytopenia (ITP) management, yet their molecular mechanisms remain incompletely elucidated.
Wanru Wang, Haoxu Wang, Xiaohan Wan, Junying Cao, Ruixue Wang, Ming Hou   +5 more
doaj   +1 more source

Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia

Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the ...
Roig, Carles, Cormand Rifà, Bru, Toma, Claudio, Barroeta, Isabel, Corominas, Roser, Fernández Castillo, Noelia, Macaya Ruiz, Alfons, Carreño, Oriel, Vila Pueyo, Marta, Cuenca León, Ester, Sintas Vives, Cèlia, Volpini Bertrán, Víctor   +11 more
core   +2 more sources

A Review of the CACNA Gene Family: Its Role in Neurological Disorders

Diseases
Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various ...
Oliwia Szymanowicz, Artur Drużdż, Bartosz Słowikowski, Sandra Pawlak, Ewelina Potocka, Ulyana Goutor, Mateusz Konieczny, Małgorzata Ciastoń, Aleksandra Lewandowska, Paweł P. Jagodziński, Wojciech Kozubski, Jolanta Dorszewska   +11 more
doaj   +1 more source

Correlations of Calcium Voltage-Gated Channel Subunit Alpha1 A (CACNA1A) Gene Polymorphisms with Benign Paroxysmal Positional Vertigo. [PDF]

Med Sci Monit, 2019
Pan R, Qi X, Wang F, Chong Y, Li X, Chen Q.   +5 more
europepmc   +1 more source

Absence seizure with atonia in POGO mice is associated with calcium channel α1A subunit (cacna1a)

, 2009
The functional analysis of genes which concerned with epilepsy is very important for epileptogenesis as well as development of therapeutic drug. The POGO mouse showed ataxia and the pogo gene was mapped on central mouse chromosome 8. In the present study,
Byung Hwa Hyun, Y Y Nam, J G Suh, T C Kang   +3 more
core  

Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit

, 2004
The CACNA1A gene, coding for the 1A-subunit (Cav2.1) of voltage-gated calcium channel type P/Q is responsible for Episodic Ataxia type 2 (EA2), Familial Hemiplegic Migraine (FHM) and Spinocerebellar Ataxia type 6 (SCA6).
Lagnese S, Veneziano L, Mantuano E, Pesce D, Frontali M, Guida S   +5 more
core  

Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene.

, 2000
International audienceWe report a reversible reduction of water diffusion in the brain during a prolonged attack of hemiplegic migraine. The patient had a sporadic mutation of the CACNA1A gene.
Poupon, Cyril, Ducros, A., Le Bihan, Denis, Bousser, M. G., Chabriat, H., Clark, C. A., Denier, C., Vahedi, K.   +7 more
core   +1 more source

Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit.

, 2004
The CACNA1A gene, coding for the 1A-subunit (Cav2.1) of voltage-gated calcium channel type P/Q is responsible for Episodic Ataxia type 2 (EA2), Familial Hemiplegic Migraine (FHM) and Spinocerebellar Ataxia type 6 (SCA6).
C Jodice, M Frontali, S Albertosi, S Guida, S Lagnese, E Mantuano, D Pesce, L Veneziano   +7 more
core  

Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit

, 2004
The CACNA1A gene, coding for the 1A-subunit (Cav2.1) of voltage-gated calcium channel type P/Q is responsible for Episodic Ataxia type 2 (EA2), Familial Hemiplegic Migraine (FHM) and Spinocerebellar Ataxia type 6 (SCA6).
Lagnese S, Veneziano L, Mantuano E, Albertosi S, Jodice C, Pesce D, Frontali M, Guida S   +7 more
core  

Parvalbumin interneuron activation rescues both seizures and impaired social novelty in digenic absence epilepsy mice. [PDF]

Sci Adv
Miao QL, Okoh J, Asan AS, Karedia S, Pan JQ, Costa-Mattioli M, Noebels JL.   +6 more
europepmc   +1 more source