[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANTS XLRS1 ARG-96 AND TRP-102.
TISSUE=Retina;
DOI=10.1038/ng1097-164; PubMed=9326935 [NCBI, ExPASy, EBI, Israel, Japan]
Sauer C.G.,
Gehrig A.,
Warneke-Wittstock R.,
Marquardt A.,
Ewing C.C.,
Gibson A.,
Lorenz B.,
Jurklies B.,
Weber B.H.;
"Positional cloning of the gene associated with X-linked juvenile retinoschisis.";
Nat. Genet. 17:164-170(1997).
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[2]
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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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[3]
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VARIANTS XLRS1 LYS-72 AND LEU-193.
DOI=10.1007/s004390050796; PubMed=9760195 [NCBI, ExPASy, EBI, Israel, Japan]
Hotta Y.,
Fujiki K.,
Hayakawa M.,
Ohta T.,
Fujimaki T.,
Tamaki K.,
Yokoyama T.,
Kanai A.,
Hirakata A.,
Hida T.,
Nishina S.,
Azuma N.;
"Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.";
Hum. Genet. 103:142-144(1998).
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[4]
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VARIANT XLRS1 CYS-197.
DOI=10.1006/bbrc.1999.0323; PubMed=10079181 [NCBI, ExPASy, EBI, Israel, Japan]
Shastry B.S.,
Hejtmancik F.J.,
Trese M.T.;
"Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.";
Biochem. Biophys. Res. Commun. 256:317-319(1999).
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[5]
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VARIANTS XLRS1 GLU-98; CYS-108; TRP-109; CYS-141; LYS-146; CYS-200 AND LYS-215.
DOI=10.1034/j.1399-0004.1999.550611.x; PubMed=10450864 [NCBI, ExPASy, EBI, Israel, Japan]
Gehrig A.,
White K.,
Lorenz B.,
Andrassi M.,
Clemens S.,
Weber B.H.;
"Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.";
Clin. Genet. 55:461-465(1999).
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[6]
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VARIANTS XLRS1 LYS-72; VAL-74 AND ARG-109.
DOI=10.1038/sj.ejhg.5200300; PubMed=10234514 [NCBI, ExPASy, EBI, Israel, Japan]
Huopaniemi L.,
Rantala A.,
Forsius H.,
Somer M.,
de la Chapelle A.,
Alitalo T.;
"Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.";
Eur. J. Hum. Genet. 7:368-376(1999).
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[7]
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VARIANT XLRS1 SER-193.
Duval P.-A.,
Marlhens F.,
Griffoin J.-M.,
Millet P.,
Arnaud B.,
Hamel C.P.;
"X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1.";
Hum. Mutat. 13:259-259(1999).
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[8]
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VARIANTS XLRS1 LYS-72; CYS-89; GLU-109; CYS-182 AND LEU-203.
DOI=10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0; PubMed=10220153 [NCBI, ExPASy, EBI, Israel, Japan]
Mashima Y.,
Shinoda K.,
Ishida S.,
Ozawa Y.,
Kudoh J.,
Iwata T.,
Oguchi Y.,
Shimizu N.;
"Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.";
Hum. Mutat. 13:338-338(1999).
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[9]
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VARIANTS XLRS1 PRO-13; SER-70; ALA-70; LYS-72; VAL-74; ASN-85 DEL; ARG-96; GLN-102; ARG-140; TRP-142; CYS-163; SER-192; CYS-200; HIS-200 AND ARG-223.
DOI=10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D; PubMed=10533068 [NCBI, ExPASy, EBI, Israel, Japan]
Hiriyanna K.T.,
Bingham E.L.,
Yashar B.M.,
Ayyagari R.,
Fishman G.,
Small K.W.,
Weinberg D.V.,
Weleber R.G.,
Lewis R.A.,
Andreasson S.,
Richards J.E.,
Sieving P.A.;
"Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.";
Hum. Mutat. 14:423-427(1999).
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[10]
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VARIANT XLRS1 GLN-102.
DOI=10.1002/ajmg.a.31568; PubMed=17304551 [NCBI, ExPASy, EBI, Israel, Japan]
Saldana M.,
Thompson J.,
Monk E.,
Trump D.,
Long V.,
Sheridan E.;
"X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.";
Am. J. Med. Genet. A 143:608-609(2007).
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