X-linked ichthyosis (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "X-linked ichthyosis" in English language version.

refsWebsite

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22nih.gov

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14doi.org

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3semanticscholar.org

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2harvard.edu

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2plos.org

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1bmj.com

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1jidinnovations.org

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1frontiersin.org

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bmj.com

jmg.bmj.com

Wren G, Baker E, Underwood JFG, Humby T, Thompson AR, Kirov G, Escott-Price V, Davies W (2022) Characterising heart rhythm abnormalities associated with Xp22.31 deletion Journal of Medical Genetics PMID 36379544 doi:10.1136/jmg-2022-108862 URL:https://jmg.bmj.com/content/early/2022/11/15/jmg-2022-108862.long

doi.org

Ballabio A, Parenti G, Carrozzo R, et al. (1987). "Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (13): 4519–23. Bibcode:1987PNAS...84.4519B. doi:10.1073/pnas.84.13.4519. PMC 305121. PMID 3474618.
Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH (December 1987). "Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (24): 9248–51. Bibcode:1987PNAS...84.9248B. doi:10.1073/pnas.84.24.9248. PMC 299730. PMID 3480541.
DiGiovanna JJ, Robinson-Bostom L (2003). "Ichthyosis: etiology, diagnosis, and management". Am J Clin Dermatol. 4 (2): 81–95. doi:10.2165/00128071-200304020-00002. PMID 12553849. S2CID 243176269.
Brcic, Lucija; Underwood, Jack FG; Kendall, Kimberley M.; Caseras, Xavier; Kirov, George; Davies, William (2020). "Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank". Journal of Medical Genetics. 57 (10): 692–698. doi:10.1136/jmedgenet-2019-106676. PMC 7525778. PMID 32139392.
Wren G, Humby T, Thompson AR, Davies W (2022) Mood symptoms, neurodevelopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis. Clinical and Experimental Dermatology PMID 35104372 doi:10.111/ced.15116 URL:https://doi.org/10.1111/ced.15116
Van Esch H, Hollanders K, Badisco L, et al. (2005). "Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis". Hum. Mol. Genet. 14 (13): 1795–803. doi:10.1093/hmg/ddi186. PMID 15888481.
Lykkesfeldt G, Lykkesfeldt AE, Skakkebaek NE (1984). "Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation". Hum. Genet. 65 (4): 355–7. doi:10.1007/BF00291559. PMID 6582028. S2CID 2625156.
Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL, Cuevas-Covarrubias SA (August 2001). "Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis". Am. J. Med. Genet. 102 (2): 146–8. doi:10.1002/ajmg.1450. PMID 11477606.
Selcer KW, Difrancesca HM, Chandra AB, Li PK (2007). "Immunohistochemical analysis of steroid sulfatase in human tissues". J. Steroid Biochem. Mol. Biol. 105 (1–5): 115–23. doi:10.1016/j.jsbmb.2006.12.105. PMID 17604157. S2CID 22124602.
Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV (April 2005). "Steroid sulfatase: molecular biology, regulation, and inhibition". Endocr. Rev. 26 (2): 171–202. doi:10.1210/er.2004-0003. PMID 15561802.
Elias PM, Crumrine D, Rassner U, et al. (2004). "Basis for abnormal desquamation and permeability barrier dysfunction in RXLI". J. Invest. Dermatol. 122 (2): 314–9. doi:10.1046/j.1523-1747.2003.22258.x. PMID 15009711.
Bruckner-Tuderman, Leena; Sigg, Christian; Geiger, Jean-Marie; Gilardi, Stefano (1988-04-01). "Acitretin in the Symptomatic Therapy for Severe Recessive X-linked Ichthyosis". Archives of Dermatology. 124 (4): 529–532. doi:10.1001/archderm.1988.01670040031017. ISSN 0003-987X. PMID 2965549.
Cotellessa C, Cuevas-Covarrubias SA, Valeri P, Fargnoli MC, Peris K (2005). "Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene". Acta Derm. Venereol. 85 (4): 346–8. doi:10.1080/00015550510026613. PMID 16191859.
Freiberg RA, Choate KA, Deng H, Alperin ES, Shapiro LJ, Khavari PA (1997). "A model of corrective gene transfer in X-linked ichthyosis". Hum. Mol. Genet. 6 (6): 927–33. doi:10.1093/hmg/6.6.927. PMID 9175741.

emedicine.com

Ichthyosis, X-Linked at eMedicine: Treatment Section

frontiersin.org

McGeoghan F, Camera E, Maiellaro M, Menon M, Huang M, Dewan P, Ziaj S, Caley MP, Donaldson M, Enright AJ, O'Toole EA (2023) RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis Frontiers in Molecular Biosciences 10:1176802 PMID 37363400 doi:10.3389/fmolb.2023.1176802 URL:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1176802/full

harvard.edu

ui.adsabs.harvard.edu

Ballabio A, Parenti G, Carrozzo R, et al. (1987). "Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (13): 4519–23. Bibcode:1987PNAS...84.4519B. doi:10.1073/pnas.84.13.4519. PMC 305121. PMID 3474618.
Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH (December 1987). "Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (24): 9248–51. Bibcode:1987PNAS...84.9248B. doi:10.1073/pnas.84.24.9248. PMC 299730. PMID 3480541.

jidinnovations.org

Brcic L, Wren GH, Underwood JFG, Kirov G, Davies W (2022) Comorbid medical issues in X-linked ichthyosis. JID Innovations 2(3):100109 PMID 35330591 doi:10.1016/j.xjidi.2022.100109 URL: https://www.jidinnovations.org/article/S2667-0267(22)00016-9/fulltext

nih.gov

pubmed.ncbi.nlm.nih.gov

Ballabio A, Parenti G, Carrozzo R, et al. (1987). "Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (13): 4519–23. Bibcode:1987PNAS...84.4519B. doi:10.1073/pnas.84.13.4519. PMC 305121. PMID 3474618.
Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH (December 1987). "Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (24): 9248–51. Bibcode:1987PNAS...84.9248B. doi:10.1073/pnas.84.24.9248. PMC 299730. PMID 3480541.
Basler E, Grompe M, Parenti G, Yates J, Ballabio A (March 1992). "Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis". Am. J. Hum. Genet. 50 (3): 483–91. PMC 1684279. PMID 1539590.
DiGiovanna JJ, Robinson-Bostom L (2003). "Ichthyosis: etiology, diagnosis, and management". Am J Clin Dermatol. 4 (2): 81–95. doi:10.2165/00128071-200304020-00002. PMID 12553849. S2CID 243176269.
Brcic, Lucija; Underwood, Jack FG; Kendall, Kimberley M.; Caseras, Xavier; Kirov, George; Davies, William (2020). "Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank". Journal of Medical Genetics. 57 (10): 692–698. doi:10.1136/jmedgenet-2019-106676. PMC 7525778. PMID 32139392.
Van Esch H, Hollanders K, Badisco L, et al. (2005). "Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis". Hum. Mol. Genet. 14 (13): 1795–803. doi:10.1093/hmg/ddi186. PMID 15888481.
Bradshaw KD, Carr BR (1986). "Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis". Obstet Gynecol Surv. 41 (7): 401–13. PMID 3531932.
Lykkesfeldt G, Lykkesfeldt AE, Skakkebaek NE (1984). "Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation". Hum. Genet. 65 (4): 355–7. doi:10.1007/BF00291559. PMID 6582028. S2CID 2625156.
Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL, Cuevas-Covarrubias SA (August 2001). "Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis". Am. J. Med. Genet. 102 (2): 146–8. doi:10.1002/ajmg.1450. PMID 11477606.
Cuevas-Covarrubias SA, Kofman-Alfaro S, Orozco Orozco E, Diaz-Zagoya JC (1995). "The biochemical identification of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis". Genet. Couns. 6 (2): 103–7. PMID 7546451.
Selcer KW, Difrancesca HM, Chandra AB, Li PK (2007). "Immunohistochemical analysis of steroid sulfatase in human tissues". J. Steroid Biochem. Mol. Biol. 105 (1–5): 115–23. doi:10.1016/j.jsbmb.2006.12.105. PMID 17604157. S2CID 22124602.
Reed MJ, Purohit A, Woo LW, Newman SP, Potter BV (April 2005). "Steroid sulfatase: molecular biology, regulation, and inhibition". Endocr. Rev. 26 (2): 171–202. doi:10.1210/er.2004-0003. PMID 15561802.
Jöbsis AC, De Groot WP, Tigges AJ, et al. (1980). "X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations". Am. J. Pathol. 99 (2): 279–89. PMC 1903491. PMID 6929654.
Elias PM, Crumrine D, Rassner U, et al. (2004). "Basis for abnormal desquamation and permeability barrier dysfunction in RXLI". J. Invest. Dermatol. 122 (2): 314–9. doi:10.1046/j.1523-1747.2003.22258.x. PMID 15009711.
Bruckner-Tuderman, Leena; Sigg, Christian; Geiger, Jean-Marie; Gilardi, Stefano (1988-04-01). "Acitretin in the Symptomatic Therapy for Severe Recessive X-linked Ichthyosis". Archives of Dermatology. 124 (4): 529–532. doi:10.1001/archderm.1988.01670040031017. ISSN 0003-987X. PMID 2965549.
Cotellessa C, Cuevas-Covarrubias SA, Valeri P, Fargnoli MC, Peris K (2005). "Topical tazarotene 0.05% versus glycolic acid 70% treatment in X-linked ichthyosis due to extensive deletion of the STS gene". Acta Derm. Venereol. 85 (4): 346–8. doi:10.1080/00015550510026613. PMID 16191859.
Freiberg RA, Choate KA, Deng H, Alperin ES, Shapiro LJ, Khavari PA (1997). "A model of corrective gene transfer in X-linked ichthyosis". Hum. Mol. Genet. 6 (6): 927–33. doi:10.1093/hmg/6.6.927. PMID 9175741.

ncbi.nlm.nih.gov

Ballabio A, Parenti G, Carrozzo R, et al. (1987). "Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (13): 4519–23. Bibcode:1987PNAS...84.4519B. doi:10.1073/pnas.84.13.4519. PMC 305121. PMID 3474618.
Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH (December 1987). "Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis". Proc. Natl. Acad. Sci. U.S.A. 84 (24): 9248–51. Bibcode:1987PNAS...84.9248B. doi:10.1073/pnas.84.24.9248. PMC 299730. PMID 3480541.
Basler E, Grompe M, Parenti G, Yates J, Ballabio A (March 1992). "Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis". Am. J. Hum. Genet. 50 (3): 483–91. PMC 1684279. PMID 1539590.
Brcic, Lucija; Underwood, Jack FG; Kendall, Kimberley M.; Caseras, Xavier; Kirov, George; Davies, William (2020). "Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank". Journal of Medical Genetics. 57 (10): 692–698. doi:10.1136/jmedgenet-2019-106676. PMC 7525778. PMID 32139392.
Jöbsis AC, De Groot WP, Tigges AJ, et al. (1980). "X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations". Am. J. Pathol. 99 (2): 279–89. PMC 1903491. PMID 6929654.

omim.org

Online Mendelian Inheritance in Man (OMIM): ICHTHYOSIS, X-LINKED - 308100

oxfordjournals.org

hmg.oxfordjournals.org

Freiberg RA, Choate KA, Deng H, Alperin ES, Shapiro LJ, Khavari PA (1997). "A model of corrective gene transfer in X-linked ichthyosis". Hum. Mol. Genet. 6 (6): 927–33. doi:10.1093/hmg/6.6.927. PMID 9175741.

plos.org

journals.plos.org

Chatterjee S, Humby T, Davies W (2016) Behavioural and psychiatric phenotypes in men and boys with X-linked ichthyosis: evidence from a worldwide online survey. PLoS One 11(10):e0164417 PMID 27711218 doi:10.1371/journal.pone.0164417 URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0164417
Cavenagh A, Chatterjee S, Davies W (2019) Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis. PLoS One 14(2):e0212330 PMID 30768640 doi:10.1371/journal.pone.0212330 URL:https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212330

portlandpress.com

Wren G, Davies W (2024) Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways Essays in Biochemistry PMID 38571328 doi:10.1042/EBC20230098 URL:https://portlandpress.com/essaysbiochem/article/doi/10.1042/EBC20230098/234273/Cardiac-arrhythmia-in-individuals-with-steroid

semanticscholar.org

api.semanticscholar.org

DiGiovanna JJ, Robinson-Bostom L (2003). "Ichthyosis: etiology, diagnosis, and management". Am J Clin Dermatol. 4 (2): 81–95. doi:10.2165/00128071-200304020-00002. PMID 12553849. S2CID 243176269.
Lykkesfeldt G, Lykkesfeldt AE, Skakkebaek NE (1984). "Steroid sulphatase in man: a non inactivated X-locus with partial gene dosage compensation". Hum. Genet. 65 (4): 355–7. doi:10.1007/BF00291559. PMID 6582028. S2CID 2625156.
Selcer KW, Difrancesca HM, Chandra AB, Li PK (2007). "Immunohistochemical analysis of steroid sulfatase in human tissues". J. Steroid Biochem. Mol. Biol. 105 (1–5): 115–23. doi:10.1016/j.jsbmb.2006.12.105. PMID 17604157. S2CID 22124602.

timberpharma.com

"Press Releases". Timber. Retrieved 2022-04-03.

wiley.com

onlinelibrary.wiley.com

Wren G, Flanagan J, Underwood J, Thompson A, Humby T, Davies W (2024) Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis). Genes Brain and Behavior doi:10.1111/gbb.12893 URL:https://onlinelibrary.wiley.com/doi/10.1111/gbb.12893
Wren GH, Davies W (2022) X-linked ichthyosis: New insights into a multi-system disorder Skin Health and Disease PMID 36479267 doi:10.1002/ski2.179 URL:https://onlinelibrary.wiley.com/doi/10.1002/ski2.179

worldcat.org

search.worldcat.org

Bruckner-Tuderman, Leena; Sigg, Christian; Geiger, Jean-Marie; Gilardi, Stefano (1988-04-01). "Acitretin in the Symptomatic Therapy for Severe Recessive X-linked Ichthyosis". Archives of Dermatology. 124 (4): 529–532. doi:10.1001/archderm.1988.01670040031017. ISSN 0003-987X. PMID 2965549.