| 1 | DUPXPS, STS
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| Duplication of the STS region in males is a benign copy-number variant.
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| Furrow A, Theisen A, Velsher L, Bawle EV, Sastry S, Mendelsohn NJ, Jarvis K, Shaffer LG, Chitayat D.
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| Am J Med Genet A 155A(8):1972-5. doi: 10.1002/ajmg.a.33985. Epub 2011 Jul 7. 2011
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| 2 | DUPXPS, STS
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| Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
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| Li F, Shen Y, Kohler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.
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| Eur J Med Genet ur J Med Genet. 2010 Feb 1. [Epub ahead of print]
2010
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| 3 | STS
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| Transcriptional control of human steroid sulfatase.
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| Nardi A, Pomari E, Zambon D, Belvedere P, Colombo L, Dalla Valle L.
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| J Steroid Biochem Mol Biol 115(1-2):68-74. Epub 2009 Mar 9.PMID: 19429462 2009
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| 4 | STS, NLGN4, SSDI
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| X linked ichthyosis (steroid sulphatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
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| Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, McMahon R, Yates JR.
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| J Med Genet Med Genet. 2008 Apr 15. [Epub ahead of print] 2008
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| 5 | SSDI, VCX3A, STS
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| Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis.
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| Cuevas-Covarrubias SA, Gonz‡lez-Huerta LM.
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| Br J Dermatol 158(3):483-6. Epub 2007 Dec 11. 2008
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| 6 | STS
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| Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder.
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| Brookes KJ, Hawi Z, Kirley A, Barry E, Gill M, Kent L.
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| Am J Med Genet B Neuropsychiatr Genet 147B(8):1531-5.PMID: 18937300 2008
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| 7 | DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
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| Melichar VO, Guth S, Hellebrand H, Meindl A, Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.
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| Am J Med Genet A 143(2):135-41. 2007
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| 8 | STS
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| Strong expression of steroid sulfatase in human cumulus cells in patients with endometriosis.
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| Yanaihara A, Otsuka Y, Iwasaki S, Okai T, Yanaihara T.
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| Fertil Steril 84(2):464-7. 2005
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| 9 | STS, SSDI
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| Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase.
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| Ghosh D.
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| Biochim Biophys Acta 1739(1):1-4. 2004
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| 10 | STS
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| Steroid sulfatase and estrogen sulfotransferase in human endometrial carcinoma.
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| Utsunomiya H, Ito K, Suzuki T, Kitamura T, Kaneko C, Nakata T, Niikura H, Okamura K, Yaegashi N, Sasano H.
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| Clin Cancer Res 10(17):5850-6. 2004
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| 11 | STS
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| Structure of human estrone sulfatase suggests functional roles of membrane association.
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| Hernandez-Guzman FG, Higashiyama T, Pangborn W, Osawa Y, Ghosh D.
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| J Biol Chem 278(25):22989-97. Epub 2003 Mar 25. 2003
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| 12 | CHST6, COL8A2, GLA, GSN, KRT12, KRT3, M1S1, STS, TGFBI
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| The molecular genetics of the corneal dystrophies--current status.
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| Klintworth GK.
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| Front Biosci 8:d687-713. Review.
2003
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| 13 | SSDI, STS
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| Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.
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| Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.
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| J Invest Dermatol 114(3):591-3. 2000
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| 14 | ABCG5, ABCG8, SSDI, STS
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| Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
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| Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH.
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| Science 290(5497):1771-5. 2000
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| 15 | DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| Molecular and cytogenetic analysis of familial Xp deletions.
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| Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
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| Am J Med Genet 94(2):163-9. 2000
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| 16 | SSDI,STS
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| X-linked ichthyosis: an update.
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| Hernandez-Martin A, Gonzalez-Sarmiento R, De Unamuno P.
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| Br J Dermatol 141(4):617-27. Review. 1999
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| 17 | SSDI,STS
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| Most sporadic cases of X-linked ichthyosis are not de novo mutations.
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| Cuevas-Covarrubias SA, Valdes-Flores M, Orozco Orozco E, Diaz-Zagoya JC, Kofman-Alfaro SH.
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| Acta Derm Venereol 79(2):143-4. 1999
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| 18 | SSDI, STS
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| A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis.
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| Morita E, Katoh O, Shinoda S, Hiragun T, Tanaka T, Kameyoshi Y, Yamamoto S.
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| J Invest Dermatol 109(2):244-5. 1997
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| 19 | SSDI, STS
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| Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
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| Alperin ES, Shapiro LJ.
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| J Biol Chem 272(33):20756-63. 1997
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| 20 | SSDI, STS
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| Characterization of the promoter region of human steroid sulfatase : a gene which escapes X inactivation.
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| Li XM, et al.
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| Somat Cell Mol Genet 22 : 105-117. 1996
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| 21 | SSDI, STS
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| X-linked ichthyosis without STS deficiency : clinical, genetical and molecular studies.
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| Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G.
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| Am J Med Genet 59 : 143-148. 1995
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| 22 | SSDI, STS
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| Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
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| Yen PH, et al.
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| Hum Mutat 4 : 76-78. 1994
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| 23 | DELXPM,SSDI,STS
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| A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects.
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| Paige DG, et al.
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| Br J Dermatol 131 : 622-629. 1994
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| 24 | DELXPM,KAL1,SSDI,STS
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| A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.
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| Lee WC, et al.
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| Genomics 18 : 1-6. 1993
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| 25 | SSDI, STS
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| Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.
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| Carrozzo R, et al.
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| Genomics 12 : 7-12. 1992
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| 26 | STS
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| Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucleic Acids Res. 1992 Mar 11;20(5):1117-22
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| Li XM, Yen PH, Shapiro LJ.
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| Nucleic Acids Res 20 1992
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| 27 | SSDI, ARSC2, STS
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| The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation.
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| Chang PL, et al.
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| Am J Hum Genet 46 : 729-737. 1990
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| 28 | SSDI, STS
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| Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.
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| Yen PH, et al.
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| Cell 61 : 603-610. 1990
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| 29 | SSDI, STS
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| Long-range physical mapping around the human steroid sulfatase locus.
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| Ross MT, et al.
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| Genomics 6 : 528-539. 1990
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| 30 | DXS278,OA1,SSDI,STS
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| Partial deletions of a sequence family (DXS278) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.
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| Schnur RE, et al.
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| Genomics 8 : 255-262. 1990
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| 31 | SSDI, CDPX1, HHG, KAL1, STS
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| Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
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| Bick D, et al.
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| Am J Med Genet 33 : 100-107. 1989
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| 32 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
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| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
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| Ballabio A, et al.
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| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
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| 33 | SSDI, OA1, STS
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| An Xp22 microdeletion associated with ocular albinism and ichthyosis : approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.
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| Schnur RE, et al.
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| Am J Hum Genet 45 : 706-720. 1989
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| 34 | SSDI, STS, STSP1
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| The human X-linked steroid sulfatase gene and a Y-encoded pseudogene : evidence for an inversion of the Y chromosome during primate evolution.
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| Yen PH, et al.
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| Cell 55 : 1123-1135. 1988
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| 35 | SSDI, STS
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| X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis).
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| Cooke A, et al.
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| Hum Genet 79 : 49-52. 1988
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| 36 | CDPX1,DELXPM,SSDI,STS
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| X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation : DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
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| Ballabio A, et al.
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| Clin Genet 34 : 31-37. 1988
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| 37 | SSDI, STS
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| Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).
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| Wirth B, et al.
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| Hum Genet 80 : 191-192. 1988
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| 38 | SSDI, STS
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| Linkage of steroid sulphatase to distal Xp markers.
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| Yates JRW, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 724. 1987
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| 39 | STS, STSP1
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| Localisation of STS coding sequences to Xp22.3 and to Yq11.2 : evidence for an ancestral pseudoautosomal gene?
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| Fraser N, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 615. 1987
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| 40 | SSDI, STS, STSP1
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| Cloning and expression of steroid sulfatase cDNA and the frequent occurence of deletions in STS deficiency : implications for X-Y interchange.
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| Yen PH, et al.
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| Cell 49 : 443-454. 1987
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| 41 | SSDI, DXS237, STS, XG
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| Multipoint linkage analysis of steroid sulfatase (X linked ichthyosis) and distal Xp markers.
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| Yates JRW, et al.
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| Genomics 1 : 52-59. 1987
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| 42 | DELXPM,HHG,KAL1,SSDI,STS
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| X-linked ichthyosis, hypogonadotropic hypogonadism, and hyposmia in two male siblings.
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| Fidone GS, et al.
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| Am J Hum Genet 41 : A58. 1987
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| 43 | CD99, STS, XG
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| Fine mapping of the distal short arm of the human X chromosome using X/Y translocations.
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| Geller RL, et al.
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| Am J Hum Genet 38 : 884-890. 1986
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| 44 | STS, DELXPM, KAL1, SSDI, XG
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| X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) : linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.
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| Ballabio A, et al.
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| Hum Genet 72 : 237-240. 1986
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| 45 | STS
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| X-linkage of steroid sulfatase in the mouse is evidence for a functional Y-linked allele.
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| Keitges E, et al.
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| Nature 315 : 226-227. 1985
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| 46 | CDPX1, CD99, STS
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| Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.
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| Curry CJR, et al.
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| N Engl J Med 311 : 1010-1015. 1984
|