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SHOX at a glance: from gene to protein.
Marchini A, Rappold G, Schneider KU. Marchini A, et al. Among authors: rappold g. Arch Physiol Biochem. 2007 Jun;113(3):116-23. doi: 10.1080/13813450701531201. Arch Physiol Biochem. 2007. PMID: 17922307 Review.
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Rappold GA, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1402-6. doi: 10.1210/jcem.87.3.8328. J Clin Endocrinol Metab. 2002. PMID: 11889216
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, Rappold GA. Montalbano A, et al. Among authors: rappold ga. EMBO Mol Med. 2016 Dec 1;8(12):1455-1469. doi: 10.15252/emmm.201606623. Print 2016 Dec. EMBO Mol Med. 2016. PMID: 27861128 Free PMC article.
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A, Ogata T, Rappold GA. Marchini A, et al. Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29. Endocr Rev. 2016. PMID: 27355317 Free PMC article. Review.
Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment.
Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF. Child CJ, et al. Among authors: rappold ga. Horm Res Paediatr. 2015;84(1):14-25. doi: 10.1159/000381712. Epub 2015 May 6. Horm Res Paediatr. 2015. PMID: 25967354 Clinical Trial.
SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.
Hristov G, Marttila T, Durand C, Niesler B, Rappold GA, Marchini A. Hristov G, et al. Among authors: rappold ga. Hum Mol Genet. 2014 Mar 15;23(6):1619-30. doi: 10.1093/hmg/ddt552. Epub 2013 Nov 1. Hum Mol Genet. 2014. PMID: 24186869
All shook up by SHOX deficiency.
Rappold GA, Shanske A, Saenger P. Rappold GA, et al. J Pediatr. 2005 Oct;147(4):422-4. doi: 10.1016/j.jpeds.2005.06.048. J Pediatr. 2005. PMID: 16227022 No abstract available.
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.
Blaschke RJ, Töpfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA. Blaschke RJ, et al. Among authors: rappold ga. J Biol Chem. 2003 Nov 28;278(48):47820-6. doi: 10.1074/jbc.M306685200. Epub 2003 Sep 5. J Biol Chem. 2003. PMID: 12960152
The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes.
Marchini A, Marttila T, Winter A, Caldeira S, Malanchi I, Blaschke RJ, Häcker B, Rao E, Karperien M, Wit JM, Richter W, Tommasino M, Rappold GA. Marchini A, et al. J Biol Chem. 2004 Aug 27;279(35):37103-14. doi: 10.1074/jbc.M307006200. Epub 2004 May 15. J Biol Chem. 2004. PMID: 15145945
Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.
Harmel EM, Binder G, Barnikol-Oettler A, Caliebe J, Kiess W, Losekoot M, Ranke MB, Rappold GA, Schlicke M, Stobbe H, Wit JM, Pfäffle R, Klammt J. Harmel EM, et al. Among authors: rappold ga. Horm Res Paediatr. 2013;80(6):431-42. doi: 10.1159/000355410. Epub 2013 Nov 26. Horm Res Paediatr. 2013. PMID: 24296753
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