[1]
|
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT HPE5 POLY-ALA INSERTION.
DOI=10.1038/2484; PubMed=9771712 [NCBI, ExPASy, EBI, Israel, Japan]
Brown S.A.,
Warburton D.,
Brown L.Y.,
Yu C.Y.,
Roeder E.R.,
Stengel-Rutkowski S.,
Hennekam R.C.M.,
Muenke M.;
"Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.";
Nat. Genet. 20:180-183(1998).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Brain;
DOI=10.1074/jbc.M007906200; PubMed=10984499 [NCBI, ExPASy, EBI, Israel, Japan]
Yang Y.,
Hwang C.K.,
Junn E.,
Lee G.,
Mouradian M.M.;
"ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene.";
J. Biol. Chem. 275:38863-38869(2000).
|
[3]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A.,
Matthews L.H.,
Burton J.,
Ashurst J.L.,
Howe K.L.,
Ashcroft K.J.,
Beare D.M.,
Burford D.C.,
Hunt S.E.,
Griffiths-Jones S.,
Jones M.C.,
Keenan S.J.,
Oliver K.,
Scott C.E.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews D.T.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Bannerjee R.,
Barlow K.F.,
Bates K.,
Beasley H.,
Bird C.P.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burrill W.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clamp M.E.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.C.,
Cobley V.,
Collins J.E.,
Corby N.,
Coville G.J.,
Deloukas P.,
Dhami P.,
Dunham I.,
Dunn M.,
Earthrowl M.E.,
Ellington A.G.,
Faulkner L.,
Frankish A.G.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gilbert J.G.R.,
Gilson C.J.,
Ghori J.,
Grafham D.V.,
Gribble S.M.,
Griffiths C.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Howden P.J.,
Huckle E.J.,
Hunt P.J.,
Hunt A.R.,
Johnson C.,
Johnson D.,
Kay M.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.J.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Lloyd C.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
McLaren S.J.,
McMurray A.,
Milne S.,
Moore M.J.F.,
Nickerson T.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.M.,
Rice C.M.,
Searle S.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Steward C.A.,
Sycamore N.,
Tester J.,
Thomas D.W.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
Whitehead S.L.,
Willey D.L.,
Wilming L.,
Wray P.W.,
Wright M.W.,
Young L.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Beck S.,
Bentley D.R.,
Rogers J.,
Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
|
[4]
|
VARIANTS HPE5 POLY-ALA INSERTION AND PHE-152, AND POLYMORPHISM OF POLY-HIS REGION.
DOI=10.1093/hmg/10.8.791; PubMed=11285244 [NCBI, ExPASy, EBI, Israel, Japan]
Brown L.Y.,
Odent S.,
David V.,
Blayau M.,
Dubourg C.,
Apacik C.,
Delgado M.A.,
Hall B.D.,
Reynolds J.F.,
Sommer A.,
Wieczorek D.,
Brown S.A.,
Muenke M.;
"Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.";
Hum. Mol. Genet. 10:791-796(2001).
|
[5]
|
VARIANTS HPE5 PRO-36 AND PHE-152, AND VARIANTS HIS-239 INS AND HIS-239 DEL.
DOI=10.1002/humu.20056; PubMed=15221788 [NCBI, ExPASy, EBI, Israel, Japan]
Dubourg C.,
Lazaro L.,
Pasquier L.,
Bendavid C.,
Blayau M.,
Le Duff F.,
Durou M.-R.,
Odent S.,
David V.;
"Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations.";
Hum. Mutat. 24:43-51(2004).
|
[6]
|
CHARACTERIZATION OF VARIANTS HPE5 PRO-36; PHE-152 AND POLY-ALA INS.
DOI=10.1093/hmg/ddi037; PubMed=15590697 [NCBI, ExPASy, EBI, Israel, Japan]
Brown L.,
Paraso M.,
Arkell R.,
Brown S.;
"In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.";
Hum. Mol. Genet. 14:411-420(2005).
|
|
ExPASy Home page
SIB Switzerland
