[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), AND VARIANTS CSNB2A ASP-369; GLN-519; TRP-1060 AND HIS-1375.
TISSUE=Retina;
DOI=10.1038/940; PubMed=9662399 [NCBI, ExPASy, EBI, Israel, Japan]
Strom T.M.,
Nyakatura G.,
Apfelstedt-Sylla E.,
Hellebrand H.,
Lorenz B.,
Weber B.H.F.,
Wutz K.,
Gutwillinger N.,
Ruether K.,
Drescher B.,
Sauer C.,
Zrenner E.,
Meitinger T.,
Rosenthal A.,
Meindl A.;
"An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.";
Nat. Genet. 19:260-263(1998).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
DOI=10.1006/geno.2000.6204; PubMed=10873387 [NCBI, ExPASy, EBI, Israel, Japan]
Naylor M.J.,
Rancourt D.E.,
Bech-Hansen N.T.;
"Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.";
Genomics 66:324-327(2000).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1211-1977 (ISOFORM 3).
DOI=10.1006/geno.1997.4941; PubMed=9344658 [NCBI, ExPASy, EBI, Israel, Japan]
Fisher S.E.,
Ciccodicola A.,
Tanaka K.,
Curci A.,
Desicato S.,
D'Urso M.,
Craig I.W.;
"Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.";
Genomics 45:340-347(1997).
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[5]
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VARIANTS CSNB2A ASP-369; ASP-674 AND ASP-928.
DOI=10.1007/s004390100461; PubMed=11281458 [NCBI, ExPASy, EBI, Israel, Japan]
Boycott K.M.,
Maybaum T.A.,
Naylor M.J.,
Weleber R.G.,
Robitaille J.,
Miyake Y.,
Bergen A.A.B.,
Pierpont M.E.,
Pearce W.G.,
Bech-Hansen N.T.;
"A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.";
Hum. Genet. 108:91-97(2001).
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[6]
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VARIANTS CSNB2A ARG-74; PRO-229; ARG-261; ASP-369; CYS-753; PRO-860; ARG-1018; TRP-1060; PRO-1079; ARG-1499; ARG-1500 AND PRO-1508.
DOI=10.1038/sj.ejhg.5200828; PubMed=12111638 [NCBI, ExPASy, EBI, Israel, Japan]
Wutz K.,
Sauer C.,
Zrenner E.,
Lorenz B.,
Alitalo T.,
Broghammer M.,
Hergersberg M.,
de la Chapelle A.,
Weber B.H.F.,
Wissinger B.,
Meindl A.,
Pusch C.M.;
"Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.";
Eur. J. Hum. Genet. 10:449-456(2002).
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[7]
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VARIANTS CSNB2A ARG-150 AND ILE-635.
DOI=10.1076/opge.23.2.71.2214; PubMed=12187427 [NCBI, ExPASy, EBI, Israel, Japan]
Weleber R.G.;
"Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).";
Ophthalmic Genet. 23:71-97(2002).
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[8]
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VARIANT CSNB2A THR-756, AND CHARACTERIZATION OF VARIANT CSNB2A THR-756.
DOI=10.1073/pnas.0501907102; PubMed=15897456 [NCBI, ExPASy, EBI, Israel, Japan]
Hemara-Wahanui A.,
Berjukow S.,
Hope C.I.,
Dearden P.K.,
Wu S.-B.,
Wilson-Wheeler J.,
Sharp D.M.,
Lundon-Treweek P.,
Clover G.M.,
Hoda J.-C.,
Striessnig J.,
Marksteiner R.,
Hering S.,
Maw M.A.;
"A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.";
Proc. Natl. Acad. Sci. U.S.A. 102:7553-7558(2005).
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[9]
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VARIANT THR-746.
DOI=10.1086/508067; PubMed=16960802 [NCBI, ExPASy, EBI, Israel, Japan]
Zeitz C.,
Kloeckener-Gruissem B.,
Forster U.,
Kohl S.,
Magyar I.,
Wissinger B.,
Matyas G.,
Borruat F.-X.,
Schorderet D.F.,
Zrenner E.,
Munier F.L.,
Berger W.;
"Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.";
Am. J. Hum. Genet. 79:657-667(2006).
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[10]
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INVOLVEMENT IN CORDX3.
DOI=10.1136/jmg.2006.040741; PubMed=16505158 [NCBI, ExPASy, EBI, Israel, Japan]
Jalkanen R.,
Maentyjaervi M.,
Tobias R.,
Isosomppi J.,
Sankila E.-M.,
Alitalo T.,
Bech-Hansen N.T.;
"X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.";
J. Med. Genet. 43:699-704(2006).
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[11]
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INVOLVEMENT IN AIED.
DOI=10.1167/iovs.06-1103; PubMed=17525176 [NCBI, ExPASy, EBI, Israel, Japan]
Jalkanen R.,
Bech-Hansen N.T.,
Tobias R.,
Sankila E.-M.,
Maentyjaervi M.,
Forsius H.,
de la Chapelle A.,
Alitalo T.;
"A novel CACNA1F gene mutation causes Aland Island eye disease.";
Invest. Ophthalmol. Vis. Sci. 48:2498-2502(2007).
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