What can naturally occurring mutations tell us about Ca(v)1.x channel function? - Wikidata - awgldk - TriplyDB

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

http://www.wikidata.org/entity/Q37209113

about

The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2 Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.The role of auxiliary subunits for the functional diversity of voltage-gated calcium channels.Binding mechanisms of 1,4-dihydropyridine derivatives to L-type calcium channel Cav1.2: a molecular modeling study.Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.

P2860

Q26781422-B3086265-59BD-47CD-B121-1EF53CA031ED Q33702557-B252BCD3-C493-4C1B-93BD-913B3D12AAAA Q33786236-FD8E7E47-9D61-45B7-8742-00B3D47DFE13 Q36782177-0D4D34B1-ED94-4C10-88CC-A47DF07BDA77 Q38395145-4E529C78-41A2-4713-930D-22B7E46891F5 Q40206445-CD87F0C8-2303-4627-82AD-1A4F1637AEE1 Q41904954-E8186106-4B09-4383-8ED6-212B68C94215 Q55248742-B35E0746-5FEB-43DA-BF66-D021393BFE9F

P2860

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

http://www.wikidata.org/entity/Q37209113

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 04 December 2012

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

What can naturally occurring mutations tell us about Ca

@nl

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

@en

type

label

What can naturally occurring mutations tell us about Ca

@nl

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

@en

prefLabel

What can naturally occurring mutations tell us about Ca

@nl

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

@en

P1433

Q37209113-781BD36F-7AB4-4BA4-8538-0C7A43A9C00A

P1476

Q37209113-308065C2-C18F-4BAC-B054-46DF74391417

P2093

Q37209113-0DB6EF22-286F-4C8A-82BD-C64AA3D78D46

Q37209113-640B67F9-A9D9-43EA-B77A-455B4313EC0B

P275

Q37209113-4A15B909-8892-40EC-8FCF-43408CC923A7

P2860

Q37209113-011087AD-56B2-4636-A187-69DF6D38A916

Q37209113-01DD7BD6-19E0-401E-991D-4F3DFDD18FE3

Q37209113-035FDE12-E4E2-4554-B086-B2DD9C99EA21

Q37209113-08EBDF99-D091-4F3F-95C4-A46C7E0B06DC

Q37209113-099C2FEF-743C-4970-AB56-BA75101F7A8B

Q37209113-09A58729-AE27-4D15-B926-8F3E39E77A69

Q37209113-10F70D77-7003-4448-887F-BF3F0818A3EC

Q37209113-1BC11A8B-8FBA-4FAF-A2BE-3B59E0CB133A

Q37209113-1C65B3D7-A20A-46BF-991A-8A63B127934D

Q37209113-1DD80168-1554-46C3-B07A-66DBD9CEF113

P304

Q37209113-0A0618E7-89BD-4C51-9D2C-C30758546D2A

P31

Q37209113-4C9141E1-20B5-4338-899C-110662C07E7F

Q37209113-EA82C73F-67DE-469A-9120-5DB4DC5CD9FF

P356

Q37209113-3A1B0485-1213-41CC-8C94-CF9AEE83CFF9

P407

Q37209113-15454BFD-1EF2-490B-AE2A-71B627305B8B

P433

Q37209113-BEF67DAD-2CA6-45A1-91AA-4AA5E4449806

P478

Q37209113-DD2E2F74-A2B5-4C12-82B4-0BEED4E34557

P577

Q37209113-04A96C52-B20A-4DB8-A3FE-0CE81E6907C9

Q37209113-49A4A5D5-F0AC-40EA-9A16-D2CBB3B655A9

P5875

Q37209113-228B01FF-CA3B-40A5-BE64-6FF6C20A2960

P698

Q37209113-7961D6A4-4783-4C27-A54E-6E94B5E2A718

P921

Q37209113-6BC60ED2-4295-480E-A273-8358FCA394E3

Q37209113-8A563014-E716-4BCC-B369-400251E00447

Q37209113-BB31CD8D-4033-4B83-B872-7DF72F4D4E36

Q37209113-C01F43C6-5765-42EE-85C0-EE28BACFFD7B

Q37209113-FF96DA25-FC69-4140-9174-CB0AD8672A55

P932

Q37209113-0A4778CE-89DC-491B-AB60-2423251BEDFA

P356

J.BBAMEM.2012.11.026

P1433

Biochimica et Biophysica Acta

P1476

What can naturally occurring mutations tell us about Ca(v)1.x channel function?

@en

P2093

Alexandra Koschak

http://www.w3.org/2001/XMLSchema#string

Thomas Stockner

http://www.w3.org/2001/XMLSchema#string

P275

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

P2860

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

Multiple C-terminal tail Ca(2+)/CaMs regulate Ca(V)1.2 function but do not mediate channel dimerization

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

MUSCLE: multiple sequence alignment with high accuracy and high throughput

P304

1598-1607

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1016/J.BBAMEM.2012.11.026

http://www.w3.org/2001/XMLSchema#string

P407

P433

7

http://www.w3.org/2001/XMLSchema#string

P478

1828

http://www.w3.org/2001/XMLSchema#string

P577

2012-12-04T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

2013-07-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

233877924

http://www.w3.org/2001/XMLSchema#string

P698

23219801

http://www.w3.org/2001/XMLSchema#string

P921

inorganic compound

transport protein

genetic variation

membrane proteins

P932

3787742

http://www.w3.org/2001/XMLSchema#string