[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS SHOXA AND SHOXB), AND INVOLVEMENT IN IDIOPATHIC SHORT STATURE.
TISSUE=Skeletal muscle;
DOI=10.1038/ng0597-54; PubMed=9140395 [NCBI, ExPASy, EBI, Israel, Japan]
Rao E.,
Weiss B.,
Fukami M.,
Rump A.,
Niesler B.,
Mertz A.,
Muroya K.,
Binder G.,
Kirsch S.,
Winkelmann M.,
Nordsiek G.,
Heinrich U.,
Breuning M.H.,
Ranke M.B.,
Rosenthal A.,
Ogata T.,
Rappold G.A.;
"Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.";
Nat. Genet. 16:54-63(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHOXA).
DOI=10.1093/hmg/6.8.1341; PubMed=9259282 [NCBI, ExPASy, EBI, Israel, Japan]
Ellison J.W.,
Wardak Z.,
Young M.F.,
Gehron Robey P.,
Laig-Webster M.,
Chiong W.;
"PHOG, a candidate gene for involvement in the short stature of Turner syndrome.";
Hum. Mol. Genet. 6:1341-1347(1997).
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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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VARIANTS LWD VAL-132 AND LEU-153.
DOI=10.1007/s004390000352; PubMed=11030412 [NCBI, ExPASy, EBI, Israel, Japan]
Grigelioniene G.,
Ekloef O.,
Ivarsson S.A.,
Westphal O.,
Neumeyer L.,
Kedra D.,
Dumanski J.,
Hagenaes L.;
"Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.";
Hum. Genet. 107:145-149(2000).
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[5]
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DISEASE.
DOI=10.1002/ajmg.10228; PubMed=11891678 [NCBI, ExPASy, EBI, Israel, Japan]
Cormier-Daire V.,
Huber C.,
Munnich A.;
"Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).";
Am. J. Med. Genet. 106:272-274(2001).
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[6]
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VARIANT LWD CYS-173.
DOI=10.1136/jmg.38.5.323; PubMed=11403039 [NCBI, ExPASy, EBI, Israel, Japan]
Huber C.,
Cusin V.,
Le Merrer M.,
Mathieu M.,
Sulmont V.,
Dagoneau N.,
Munnich A.,
Cormier-Daire V.;
"SHOX point mutations in dyschondrosteosis.";
J. Med. Genet. 38:323-323(2001).
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[7]
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VARIANT LMD TRP-168.
DOI=10.1210/jc.87.3.1390; PubMed=11889214 [NCBI, ExPASy, EBI, Israel, Japan]
Ogata T.,
Muroya K.,
Sasaki G.,
Nishimura G.,
Kitoh H.,
Hattori T.;
"SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.";
J. Clin. Endocrinol. Metab. 87:1390-1394(2002).
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