#CACNA1F
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thevgccc.bsky.social
The Voltage-Gated #Calcium Channel Collective - a #CACNA1A, #CACNA1B, #CACNA1C, #CACNA1D, #CACNA1E, #CACNA1F, #CACNA1G, #CACNA1H, #CACNA1I & #CACNA1S collaboration alongside researchers and clinicians raising awareness, accelerating knowledge, signposting and empowering our communities.
#IonChannels
What is the VGCCC? Voltage-Gated Calcium Channels act like doors on cells, opening when there's an electrical signal. They let calcium ions* flow in, helping with muscle movement, neurotransmission, and other important body functions. The genes that represent the Voltage-Gated Calcium Channels are CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I and CACNA1S. In the same way the channels work together like a team to ensure proper cell communication and function, we are collaborating as patient gene groups with a network of researchers to raise awareness and accelerate knowledge for all our gene groups. We are the Voltage-Gated Calcium Channel Collective. * Calcium ions are positively charged particles of calcium, an essential mineral found in the body.
November 18, 2024 at 3:17 PM
thevgccc.bsky.social
#CACNA1F

Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
Purple graphic featuring a unicorn with pink mane and green stars. White text reads: “LOOKING FOR THE ONE IN A MILLION CACNA1F is a gene that is important for retinal neurotransmission, or how neurons between the eyes and the brain communicate. Changes in CACNA1F are linked to disorders such as congenital stationary night blindness (CSNB), Aland Island Eye Disease, nystagmus, strabismus, and other visual impairments. We are looking for more families and individuals with confirmed CACNA1F gene changes to join the CACNA1F community. Please contact us if this is you.” Website: thevgccc.org
May 22, 2025 at 2:03 PM
realbiomassspec.bsky.social
Quantitative proteomics identifies potential molecular adaptations in mouse models of congenital stationary night blindness type 2 #MCP #MassSpec www.mcponline.org/article/S153...
Quantitative proteomics identifies potential molecular adaptations in mouse models of congenital stationary night blindness type 2
Pathogenic variants in the CACNA1F gene are linked to congenital stationary night blindness type 2 though their specific molecular effects remain elusive. This study examines the retinal impact of two...
www.mcponline.org
November 11, 2025 at 1:05 PM
scibud.bsky.social
In our latest episode, we discuss a groundbreaking study identifying novel mutations in the CNGA3, CACNA1F, and RPGRIP1 genes linked to retinal diseases like achromatopsia. Tune in to learn how these findings could impact genetic counseling and future therapies! https://tinyurl.com/SciBud-AI
July 31, 2025 at 1:12 PM
epilepsy-sci.bsky.social
Very well made website!
The link to the CACNA1E group directs to the CACNA1F group at the moment. It should redirect here: www.cacna1e.org
CACNA1E International
We are a group of passionate parents from all over the world coming together to fund life-changing research on CACNA1E.
www.cacna1e.org
February 28, 2025 at 1:38 PM
helixbrief.bsky.social
The researchers identified pathogenic variants in the CNGA3, CACNA1F, and RPGRIP1 genes, including novel mutations, and linked them to clinical features such as nystagmus, photophobia, and progressive vision loss.
August 5, 2025 at 11:19 PM
helixbrief.bsky.social
Unraveling the genetic roots of vision loss: Groundbreaking study identifies novel mutations in CNGA3, CACNA1F, and RPGRIP1 genes, shedding light on diverse retinal disorders and paving t...

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Full analysis: https://helixbrief.com/article/599c57fc-d6dc-4c73-ab7b-6fd6d4fef265
August 5, 2025 at 11:19 PM