Gene Review:
SHOX - short stature homeobox
Homo sapiens
Synonyms:
GCFX, PHOG, Pseudoautosomal homeobox-containing osteogenic protein, SHOXY, SS, ...
Shears,
Guillen-Navarro,
Sempere-Miralles,
Domingo-Jimenez,
Scambler,
Winter,
Doherty,
Glass,
Bennett,
Cotter,
Watson,
Mitchell,
Bird,
Farrell,
Ogata,
Muroya,
Matsuo,
Shinohara,
Yorifuji,
Nishi,
Hasegawa,
Horikawa,
Tachibana,
Spranger,
Schiller,
Jauch,
Wolff,
Rauterberg-Ruland,
Hager,
Tariverdian,
Tröger,
Rappold,
Seidel,
Schiller,
Kelbova,
Beensen,
Orth,
Vogt,
Claussen,
Zintl,
Rappold,
Jorge,
Souza,
Nishi,
Billerbeck,
Lib??rio,
Kim,
Arnhold,
Mendonca,
Zinn,
Wei,
Zhang,
Elder,
Scott,
Marttila,
Ross,
Savarirayan,
Boyle,
Masel,
Rogers,
Sheffield,
Marchini,
Daeffler,
Marttila,
Schneider,
Blaschke,
Schnölzer,
Rommelaere,
Rappold,
Grigelioniene,
Eklöf,
Ivarsson,
Westphal,
Neumeyer,
Kedra,
Dumanski,
Hagenäs,
Ogata,
Kosho,
Wakui,
Fukushima,
Yoshimoto,
Miharu,
Ezquieta,
Cueva,
Oliver,
Gracia,
- SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V. Nat. Genet. (1998)
- Complete SHOX deficiency causes Langer mesomelic dysplasia. Zinn, A.R., Wei, F., Zhang, L., Elder, F.F., Scott, C.I., Marttila, P., Ross, J.L. Am. J. Med. Genet. (2002)
- Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. Spranger, S., Schiller, S., Jauch, A., Wolff, K., Rauterberg-Ruland, I., Hager, D., Tariverdian, G., Tröger, J., Rappold, G. Am. J. Med. Genet. (1999)
- SHOX intragenic microsatellite analysis in patients with short stature. Ezquieta, B., Cueva, E., Oliver, A., Gracia, R. Journal of pediatric endocrinology & metabolism : JPEM. (2002)
- Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. Borie, C., Léger, J., Dupuy, O., Hassan, M., Ledu, N., Lebbar, A., Czernichow, P., Eydoux, P. Am. J. Med. Genet. A (2004)
- Short stature: a psychosocial burden requiring growth hormone therapy? Sandberg, D.E., Brook, A.E., Campos, S.P. Pediatrics (1994)
- Association between low-activity serotonin transporter genotype and heroin dependence: behavioral and personality correlates. Gerra, G., Garofano, L., Santoro, G., Bosari, S., Pellegrini, C., Zaimovic, A., Moi, G., Bussandri, M., Moi, A., Brambilla, F., Donnini, C. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004)
- Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. May, C.A., Shone, A.C., Kalaydjieva, L., Sajantila, A., Jeffreys, A.J. Nat. Genet. (2002)
- Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Shears, D.J., Vassal, H.J., Goodman, F.R., Palmer, R.W., Reardon, W., Superti-Furga, A., Scambler, P.J., Winter, R.M. Nat. Genet. (1998)
- Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. 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. Nat. Genet. (1997)
- Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. Ogata, T., Kosho, T., Wakui, K., Fukushima, Y., Yoshimoto, M., Miharu, N. J. Clin. Endocrinol. Metab. (2000)
- Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. Ogata, T., Muroya, K., Matsuo, N., Shinohara, O., Yorifuji, T., Nishi, Y., Hasegawa, Y., Horikawa, R., Tachibana, K. J. Clin. Endocrinol. Metab. (2001)
- The pseudoautosomal regions, SHOX and disease. Blaschke, R.J., Rappold, G. Curr. Opin. Genet. Dev. (2006)
- SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development. Blaschke, R.J., Monaghan, A.P., Schiller, S., Schechinger, B., Rao, E., Padilla-Nash, H., Ried, T., Rappold, G.A. Proc. Natl. Acad. Sci. U.S.A. (1998)
- Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. Grigelioniene, G., Eklöf, O., Ivarsson, S.A., Westphal, O., Neumeyer, L., Kedra, D., Dumanski, J., Hagenäs, L. Hum. Genet. (2000)
- The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Rao, E., Blaschke, R.J., Marchini, A., Niesler, B., Burnett, M., Rappold, G.A. Hum. Mol. Genet. (2001)
- The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Clement-Jones, M., Schiller, S., Rao, E., Blaschke, R.J., Zuniga, A., Zeller, R., Robson, S.C., Binder, G., Glass, I., Strachan, T., Lindsay, S., Rappold, G.A. Hum. Mol. Genet. (2000)
- Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. Ogata, T., Onigata, K., Hotsubo, T., Matsuo, N., Rappold, G. Endocr. J. (2001)
- Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. Marchini, A., Daeffler, L., Marttila, T., Schneider, K.U., Blaschke, R.J., Schnölzer, M., Rommelaere, J., Rappold, G. J. Mol. Biol. (2006)
- Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. Shears, D.J., Guillen-Navarro, E., Sempere-Miralles, M., Domingo-Jimenez, R., Scambler, P.J., Winter, R.M. Am. J. Med. Genet. (2002)
- Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. Savarirayan, R., Boyle, R.J., Masel, J., Rogers, J.G., Sheffield, L.J. Am. J. Med. Genet. A (2004)
- An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Doherty, M.J., Glass, I.A., Bennett, C.L., Cotter, P.D., Watson, N.F., Mitchell, A.L., Bird, T.D., Farrell, D.F. Epilepsia (2003)
- A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development. Cobb, J., Dierich, A., Huss-Garcia, Y., Duboule, D. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features. Adachi, M., Tachibana, K., Asakura, Y., Muroya, K., Ogata, T. Hum. Genet. (2000)
- Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Seidel, J., Schiller, S., Kelbova, C., Beensen, V., Orth, U., Vogt, S., Claussen, U., Zintl, F., Rappold, G.A. Clin. Genet. (2001)
- Expression of SHOX in human fetal and childhood growth plate. Munns, C.J., Haase, H.R., Crowther, L.M., Hayes, M.T., Blaschke, R., Rappold, G., Glass, I.A., Batch, J.A. J. Clin. Endocrinol. Metab. (2004)
- SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Jorge, A.A., Souza, S.C., Nishi, M.Y., Billerbeck, A.E., Lib??rio, D.C., Kim, C.A., Arnhold, I.J., Mendonca, B.B. Clin. Endocrinol. (Oxf) (2007)
- A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Wei, F., Cheng, S., Badie, N., Elder, F., Scott, C., Nicholson, L., Ross, J.L., Zinn, A.R. Am. J. Med. Genet. (2001)