{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:53:39Z","timestamp":1791420819465,"version":"4.3.3"},"reference-count":112,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,10,12]],"date-time":"2024-10-12T00:00:00Z","timestamp":1728691200000},"content-version":"vor","delay-in-days":726,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008533","name":"School of Psychology, Cardiff University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008533","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>X-linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males; it is characterised by abnormal desquamation and retentionhyperkeratosis, and presents with polygonal brown scales. Most cases resultfrom genetic deletions within Xp22.31 spanning the STS (steroid sulfatase)gene, with the remaining cases resulting from STS-specific mutations. For manyyears it has been recognised that individuals with XLI are at increased risk ofcryptorchidism and corneal opacities.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We discuss emerging evidence that such individuals are alsomore likely to be affected by a range of neurodevelopmental and psychiatrictraits, by cardiac arrhythmias, and by rare fibrotic and bleeding-relatedconditions. We consider candidate mechanisms that may confer elevatedlikelihood of these individual conditions, and propose a novel commonbiological risk pathway.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Understanding the prevalence, nature and co-occurrence ofcomorbidities associated with XLI is critical for ensuring early identificationof symptoms and for providing the most effective genetic counselling andmultidisciplinary care for affected individuals.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Future work in males with XLI, and in new preclinical andcellular model systems, should further clarify underlying pathophysiologicalmechanisms amenable to therapeutic intervention.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/ski2.179","type":"journal-article","created":{"date-parts":[[2022,10,17]],"date-time":"2022-10-17T08:00:48Z","timestamp":1665993648000},"source":"Crossref","is-referenced-by-count":21,"title":["X-Linked Ichthyosis: New Insights Into a Multi-System Disorder"],"prefix":"10.1093","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9179-136X","authenticated-orcid":false,"given":"Georgina H.","family":"Wren","sequence":"first","affiliation":[{"name":"School of Psychology, Cardiff University , Cardiff ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7714-2440","authenticated-orcid":false,"given":"William","family":"Davies","sequence":"additional","affiliation":[{"name":"School of Psychology, Cardiff University , Cardiff ,","place":["UK"]},{"name":"School of Medicine, Cardiff University , Cardiff ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,10,17]]},"reference":[{"key":"2025010818060914700_ski2179-bib-0001","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2022.08.012","article-title":"Inherited ichthyosis as a paradigm of rare skin disorders: genomic medicine, pathogenesis, and management","author":"Park","year":"2022","journal-title":"J Am Acad Dermatol"},{"key":"2025010818060914700_ski2179-bib-0002","volume-title":"Inherited abnormalities of the skin and its appendages","author":"Cockayne","year":"1933"},{"issue":"8055","key":"2025010818060914700_ski2179-bib-0003","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/s0140-6736(78)90005-3","article-title":"X-linked ichthyosis due to steroid-sulphatase deficiency","volume":"1","author":"Webster","year":"1978","journal-title":"Lancet"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0004","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1016\/0092-8674(88)90257-7","article-title":"The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution","volume":"55","author":"Yen","year":"1988","journal-title":"Cell"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0005","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1210\/er.2015-1036","article-title":"The regulation of steroid action by sulfation and desulfation","volume":"36","author":"Mueller","year":"2015","journal-title":"Endocr Rev"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0006","doi-asserted-by":"publisher","DOI":"10.1016\/j.jlr.2022.100177","article-title":"Cholesterol sulfate fluidizes the sterol fraction of the stratum corneum lipid phase and increases its permeability","volume":"63","author":"Fandrei","year":"2022","journal-title":"J Lipid Res"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0007","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1016\/j.bbalip.2013.11.009","article-title":"Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis","volume":"1841","author":"Elias","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0008","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1016\/j.jaad.2009.04.028","article-title":"X-linked ichthyosis: an oculocutaneous genodermatosis","volume":"62","author":"Fernandes","year":"2010","journal-title":"J Am Acad Dermatol"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0009","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1136\/jmedgenet-2019-106676","article-title":"Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank","volume":"57","author":"Brcic","year":"2020","journal-title":"J Med Genet"},{"issue":"7","key":"2025010818060914700_ski2179-bib-0010","doi-asserted-by":"publisher","first-page":"adv00096","DOI":"10.2340\/00015555-3432","article-title":"Genetics of inherited ichthyoses and related diseases","volume":"100","author":"Fischer","year":"2020","journal-title":"Acta Derm Venereol"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0011","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1080\/000155599750011381","article-title":"Most \u2018sporadic\u2019 cases of X-linked ichthyosis are not de novo mutations","volume":"79","author":"Cuevas-Covarrubias","year":"1999","journal-title":"Acta Derm Venereol"},{"issue":"9","key":"2025010818060914700_ski2179-bib-0012","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1002\/pd.2588","article-title":"Prevalence of steroid sulfatase deficiency in California according to race and ethnicity","volume":"30","author":"Craig","year":"2010","journal-title":"Prenat Diagn"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0013","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1002\/pd.2326","article-title":"Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols","volume":"29","author":"Langlois","year":"2009","journal-title":"Prenat Diagn"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0014","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.jaad.2014.12.020","article-title":"The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray","volume":"72","author":"Hand","year":"2015","journal-title":"J Am Acad Dermatol"},{"key":"2025010818060914700_ski2179-bib-0015","author":"DECIPHER v11.14 Mapping the clinical genome"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0016","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/j.jid.2017.08.047","article-title":"Increased prevalence of filaggrin deficiency in 51 patients with recessive X-linked ichthyosis presenting for dermatological examination","volume":"138","author":"Sussmuth","year":"2018","journal-title":"J Invest Dermatol"},{"key":"2025010818060914700_ski2179-bib-0017","author":"GTEx Portal"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0018","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1159\/000249372","article-title":"Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis","volume":"172","author":"Traupe","year":"1986","journal-title":"Dermatol"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0019","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0212330","article-title":"Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis","volume":"14","author":"Cavenagh","year":"2019","journal-title":"PLoS One"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0020","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1111\/exd.13667","article-title":"X-linked ichthyosis: clinical and molecular findings in 35 Italian patients","volume":"28","author":"Diociaiuti","year":"2019","journal-title":"Exp Dermatol"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0021","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1111\/bjd.16826","article-title":"Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series","volume":"179","author":"Rodrigo-Nicolas","year":"2018","journal-title":"Br J Dermatol"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0022","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1111\/j.1651-2227.2007.00241.x","article-title":"Cryptorchidism: classification, prevalence and long-term consequences","volume":"96","author":"Virtanen","year":"2007","journal-title":"Acta Paediatr"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0023","doi-asserted-by":"publisher","first-page":"2545","DOI":"10.1210\/jc.2015-4101","article-title":"Steroid sulfatase deficiency and androgen activation before and after puberty","volume":"101","author":"Idkowiak","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0024","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1097\/00003226-200011000-00023","article-title":"Corneal manifestations of X-linked ichthyosis in two brothers","volume":"19","author":"Haritoglou","year":"2000","journal-title":"Cornea"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0025","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/s0002-9394(14)75799-x","article-title":"Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis","volume":"118","author":"Macsai","year":"1994","journal-title":"Am J Ophthalmol"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0026","first-page":"315","article-title":"Corneal changes in X-linked ichthyosis","volume":"56","author":"Grala","year":"1985","journal-title":"J Am Optom Assoc"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0027","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1001\/archopht.1997.01100150411017","article-title":"Clinicopathologic study of the cornea in X-linked ichthyosis","volume":"115","author":"Kempster","year":"1997","journal-title":"Arch Ophthalmol"},{"key":"2025010818060914700_ski2179-bib-0028","article-title":"Corneal opacity in the United States: an epidemiological study from the IRIS Registry","volume":"61","author":"Yuksel","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0029","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/1097-0142(19910201)67:3<730::AID-CNCR2820670333>3.0.CO;2-T","article-title":"Testis cancer. Ichthyosis constitutes a significant risk factor","volume":"67","author":"Lykkesfeldt","year":"1991","journal-title":"Cancer"},{"issue":"9","key":"2025010818060914700_ski2179-bib-0030","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1093\/aje\/kwx246","article-title":"Comparison of sociodemographic and health-related characteristics of UK biobank participants with those of the general population","volume":"186","author":"Fry","year":"2017","journal-title":"Am J Epidemiol"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0031","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1016\/j.gene.2013.06.018","article-title":"Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation","volume":"527","author":"Ben Khelifa","year":"2013","journal-title":"Gene"},{"issue":"22","key":"2025010818060914700_ski2179-bib-0032","doi-asserted-by":"publisher","first-page":"2944","DOI":"10.1002\/ajmg.a.32473","article-title":"Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation","volume":"146A","author":"van Steensel","year":"2008","journal-title":"Am J Med Genet"},{"issue":"8","key":"2025010818060914700_ski2179-bib-0033","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1136\/jmg.2008.057729","article-title":"X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits","volume":"45","author":"Kent","year":"2008","journal-title":"J Med Genet"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0034","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.jdermsci.2006.10.001","article-title":"Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation","volume":"45","author":"Hosomi","year":"2007","journal-title":"J Dermatol Sci"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0035","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1016\/j.biopsych.2009.05.008","article-title":"Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level","volume":"66","author":"Daoud","year":"2009","journal-title":"Biol Psychiatr"},{"issue":"40","key":"2025010818060914700_ski2179-bib-0036","doi-asserted-by":"publisher","first-page":"12419","DOI":"10.1523\/JNEUROSCI.5954-08.2009","article-title":"Modulation of neuritogenesis by a protein implicated in X-linked mental retardation","volume":"29","author":"Jiao","year":"2009","journal-title":"J Neurosci"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0037","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1086\/382137","article-title":"X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family","volume":"74","author":"Laumonnier","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0038","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1086\/303047","article-title":"A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation","volume":"67","author":"Fukami","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0039","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.ejmg.2007.11.002","article-title":"Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes","volume":"51","author":"Mochel","year":"2008","journal-title":"Eur J Med Genet"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0040","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1111\/j.1365-2788.2006.00880.x","article-title":"Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect","volume":"51","author":"Macarov","year":"2007","journal-title":"J Intellect Disabil Res"},{"issue":"11","key":"2025010818060914700_ski2179-bib-0041","doi-asserted-by":"publisher","first-page":"2622","DOI":"10.1038\/npp.2014.115","article-title":"Genetic and pharmacological modulation of the steroid sulfatase axis improves response control; comparison with drugs used in ADHD","volume":"39","author":"Davies","year":"2014","journal-title":"Neuropsychopharmacology"},{"issue":"8","key":"2025010818060914700_ski2179-bib-0042","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1016\/j.psyneuen.2012.12.002","article-title":"Biological mechanisms associated with increased perseveration and hyperactivity in a genetic mouse model of neurodevelopmental disorder","volume":"38","author":"Trent","year":"2013","journal-title":"Psychoneuroendocrinology"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0043","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1016\/j.biopsych.2009.01.001","article-title":"Converging pharmacological and genetic evidence indicates a role for steroid sulfatase in attention","volume":"66","author":"Davies","year":"2009","journal-title":"Biol Psychiatr"},{"key":"2025010818060914700_ski2179-bib-0044","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2022.839887","article-title":"Steroid sulfation in neurodegenerative diseases","volume":"9","author":"Vitku","year":"2022","journal-title":"Front Mol Biosci"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0045","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1038\/s41467-020-20269-y","article-title":"Steroid hormones sulfatase inactivation extends lifespan and ameliorates age-related diseases","volume":"12","author":"Perez-Jimenez","year":"2021","journal-title":"Nat Commun"},{"key":"2025010818060914700_ski2179-bib-0046","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.yhbeh.2016.05.019","article-title":"Steroid sulfatase inhibitor DU-14 protects spatial memory and synaptic plasticity from disruption by amyloid beta protein in male rats","volume":"83","author":"Yue","year":"2016","journal-title":"Horm Behav"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0047","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1016\/s0006-8993(00)02372-6","article-title":"The effect of steroid sulfatase inhibition on learning and spatial memory","volume":"865","author":"Johnson","year":"2000","journal-title":"Brain Res"},{"issue":"1-2","key":"2025010818060914700_ski2179-bib-0048","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/s0006-8993(97)00867-6","article-title":"Enhanced plasma DHEAS, brain acetylcholine and memory mediated by steroid sulfatase inhibition","volume":"773","author":"Rhodes","year":"1997","journal-title":"Brain Res"},{"issue":"12","key":"2025010818060914700_ski2179-bib-0049","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1111\/j.0013-9580.2003.61702.x","article-title":"An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits","volume":"44","author":"Doherty","year":"2003","journal-title":"Epilepsia"},{"issue":"7","key":"2025010818060914700_ski2179-bib-0050","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1136\/jmg.38.7.466","article-title":"Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus","volume":"38","author":"Tobias","year":"2001","journal-title":"J Med Genet"},{"issue":"10024","key":"2025010818060914700_ski2179-bib-0051","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1016\/S0140-6736(15)00238-X","article-title":"Attention deficit hyperactivity disorder","volume":"387","author":"Thapar","year":"2016","journal-title":"Lancet"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0052","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0164417","article-title":"Behavioural and psychiatric phenotypes in men and boys with X-linked ichthyosis: evidence from a worldwide online survey","volume":"11","author":"Chatterjee","year":"2016","journal-title":"PLoS One"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0053","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s12402-018-0277-6","article-title":"The positive aspects of attention deficit hyperactivity disorder: a qualitative investigation of successful adults with ADHD","volume":"11","author":"Sedgwick","year":"2019","journal-title":"Atten Defic Hyperact Disord"},{"key":"2025010818060914700_ski2179-bib-0054","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.pediatrneurol.2020.02.008","article-title":"X-linked familial focal epilepsy associated with Xp22.31 deletion","volume":"108","author":"Myers","year":"2020","journal-title":"Pediatr Neurol"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0055","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.pediatrneurol.2005.08.015","article-title":"Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia","volume":"34","author":"Ozawa","year":"2006","journal-title":"Pediatr Neurol"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0056","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1111\/j.1601-183X.2010.00672.x","article-title":"Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder","volume":"10","author":"Stergiakouli","year":"2011","journal-title":"Gene Brain Behav"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0057","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.646","article-title":"A genetic variant within STS previously associated with inattention in boys with attention deficit hyperactivity disorder is associated with enhanced cognition in healthy adult males","volume":"7","author":"Humby","year":"2017","journal-title":"Brain Behav"},{"issue":"12","key":"2025010818060914700_ski2179-bib-0058","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1016\/j.biopsych.2006.08.011","article-title":"X-monosomy effects on visuospatial attention in mice: a candidate gene and implications for Turner syndrome and attention deficit hyperactivity disorder","volume":"61","author":"Davies","year":"2007","journal-title":"Biol Psychiatr"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0059","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1038\/npp.2011.314","article-title":"Altered serotonergic function may partially account for behavioral endophenotypes in steroid sulfatase-deficient mice","volume":"37","author":"Trent","year":"2012","journal-title":"Neuropsychopharmacology"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0060","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1017\/S1461145701002462","article-title":"Analysis of neurosteroid levels in attention deficit hyperactivity disorder","volume":"4","author":"Strous","year":"2001","journal-title":"Int J Neuropsychopharmacol"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0061","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1159\/000073626","article-title":"Three-month treatment course of methylphenidate increases plasma levels of dehydroepiandrosterone (DHEA) and dehydroepiandrosterone-sulfate (DHEA-S) in attention deficit hyperactivity disorder","volume":"48","author":"Maayan","year":"2003","journal-title":"Neuropsychobiology"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0062","doi-asserted-by":"publisher","DOI":"10.1111\/jne.12792","article-title":"Neurobehavioural complications of sleep deprivation: shedding light on the emerging role of neuroactive steroids","volume":"32","author":"Frau","year":"2020","journal-title":"J Neuroendocrinol"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0063","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.5664\/jcsm.9208","article-title":"The importance of evaluating sleep complaints in children with ichthyoses: a commentary on physical and psychological growth impairment","volume":"17","author":"Xerfan","year":"2021","journal-title":"J Clin Sleep Med"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0064","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1038\/sj.mp.4001781","article-title":"Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism","volume":"11","author":"Vorstman","year":"2006","journal-title":"Mol Psychiatr"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0065","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1002\/aur.2696","article-title":"Global prevalence of autism: a systematic review update","volume":"15","author":"Zeidan","year":"2022","journal-title":"Autism Res"},{"key":"2025010818060914700_ski2179-bib-0066","doi-asserted-by":"publisher","first-page":"9086408","DOI":"10.1155\/2017\/9086408","article-title":"Neurological manifestations of X-linked ichthyosis: case report and review of the literature","volume":"2017","author":"Baek","year":"2017","journal-title":"Case Rep Genet"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0067","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1186\/s13256-017-1420-2","article-title":"X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report","volume":"11","author":"Malik","year":"2017","journal-title":"J Med Case Rep"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0068","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-3908","article-title":"Incidence and prevalence of childhood epilepsy: a nationwide cohort study","volume":"139","author":"Aaberg","year":"2017","journal-title":"Pediatrics"},{"key":"2025010818060914700_ski2179-bib-0069","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00442","article-title":"Neuroactive steroids: receptor interactions and responses","volume":"8","author":"Tuem","year":"2017","journal-title":"Front Neurol"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0070","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1111\/ced.13741","article-title":"A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism","volume":"44","author":"Ohyama","year":"2019","journal-title":"Clin Exp Dermatol"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0071","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-25532-4","article-title":"Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations","volume":"12","author":"Rees","year":"2021","journal-title":"Nat Commun"},{"key":"2025010818060914700_ski2179-bib-0072","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.gde.2021.02.014","article-title":"Copy number variation and neuropsychiatric illness","volume":"68","author":"Rees","year":"2021","journal-title":"Curr Opin Genet Dev"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0073","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1034\/j.1399-0004.1999.550610.x","article-title":"Schizophrenia susceptibility gene locus at Xp22.3","volume":"55","author":"Milunsky","year":"1999","journal-title":"Clin Genet"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0074","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1159\/000444922","article-title":"Sex steroids and major psychoses: which role for DHEA-S and progesterone","volume":"73","author":"Buoli","year":"2016","journal-title":"Neuropsychobiology"},{"issue":"5","key":"2025010818060914700_ski2179-bib-0075","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.molmed.2012.03.001","article-title":"Does steroid sulfatase deficiency influence postpartum psychosis risk?","volume":"18","author":"Davies","year":"2012","journal-title":"Trends Mol Med"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0076","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1016\/j.jaad.2020.01.052","article-title":"Ichthyosis affects mental health in adults and children: a cross-sectional study","volume":"83","author":"Sun","year":"2020","journal-title":"J Am Acad Dermatol"},{"issue":"6","key":"2025010818060914700_ski2179-bib-0077","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1111\/ced.15116","article-title":"Mood symptoms, neurodevelopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis","volume":"47","author":"Wren","year":"2022","journal-title":"Clin Exp Dermatol"},{"key":"2025010818060914700_ski2179-bib-0078","doi-asserted-by":"publisher","first-page":"7461052","DOI":"10.1155\/2020\/7461052","article-title":"Temporal change in blood group after bone marrow transplant: a case of successful ABO-incompatible deceased donor transplant","volume":"2020","author":"Lam","year":"2020","journal-title":"Case Rep Transplant"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0079","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104459","article-title":"Sex-linked genetic mechanisms and atrial fibrillation risk","volume":"65","author":"Wren","year":"2022","journal-title":"Eur J Med Genet"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0080","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s40263-012-0019-9","article-title":"Risk of serious cardiovascular problems with medications for attention-deficit hyperactivity disorder","volume":"27","author":"Martinez-Raga","year":"2013","journal-title":"CNS Drugs"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0081","doi-asserted-by":"publisher","first-page":"e275","DOI":"10.1111\/1346-8138.14307","article-title":"Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia","volume":"45","author":"Maki","year":"2018","journal-title":"J Dermatol"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0082","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1007\/s10549-017-4427-x","article-title":"IPET study: an FLT-PET window study to assess the activity of the steroid sulfatase inhibitor irosustat in early breast cancer","volume":"166","author":"Palmieri","year":"2017","journal-title":"Breast Cancer Res Treat"},{"issue":"10","key":"2025010818060914700_ski2179-bib-0083","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1016\/j.jhsa.2021.07.005","article-title":"Dupuytren contractures: an update of recent literature","volume":"46","author":"Boe","year":"2021","journal-title":"J Hand Surg Am"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0084","doi-asserted-by":"publisher","DOI":"10.1016\/j.xjidi.2022.100109","article-title":"Comorbid medical issues in X-linked ichthyosis","volume":"2","author":"Brcic","year":"2022","journal-title":"JID Innov"},{"key":"2025010818060914700_ski2179-bib-0085","author":"Mayo Clinic","journal-title":"Acitretin (oral route)"},{"issue":"16","key":"2025010818060914700_ski2179-bib-0086","doi-asserted-by":"publisher","first-page":"3327","DOI":"10.1111\/bph.15227","article-title":"Cholesterol and oxysterol sulfates: pathophysiological roles and analytical challenges","volume":"178","author":"Sanchez","year":"2021","journal-title":"Br J Pharmacol"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0087","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1111\/j.1365-2133.2012.10979.x","article-title":"X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments","volume":"167","author":"Hoppe","year":"2012","journal-title":"Br J Dermatol"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0088","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1083\/jcb.144.1.151","article-title":"Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation","volume":"144","author":"Smyth","year":"1999","journal-title":"J Cell Biol"},{"key":"2025010818060914700_ski2179-bib-0089","doi-asserted-by":"publisher","DOI":"10.21203\/rs.3.rs-1690590\/v1","article-title":"Integrated bioinformatics analysis reveals significant genes associated with cryptorchidism (CO)","author":"Hu","journal-title":"Res Square"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0090","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1089\/zeb.2009.0613","article-title":"Identification of a heritable model of testicular germ cell tumor in the zebrafish","volume":"6","author":"Neumann","year":"2009","journal-title":"Zebrafish"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0091","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/s00441-018-2934-7","article-title":"Basement membranes in the cornea and other organs that commonly develop fibrosis","volume":"374","author":"Saikia","year":"2018","journal-title":"Cell Tissue Res"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0092","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14898","article-title":"Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy","volume":"8","author":"Afshari","year":"2017","journal-title":"Nat Commun"},{"issue":"14","key":"2025010818060914700_ski2179-bib-0093","doi-asserted-by":"publisher","first-page":"6029","DOI":"10.1523\/JNEUROSCI.22-14-06029.2002","article-title":"A critical function of the pial basement membrane in cortical histogenesis","volume":"22","author":"Halfter","year":"2002","journal-title":"J Neurosci"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0094","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1186\/s12920-021-00911-4","article-title":"Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia","volume":"14","author":"De Angelis","year":"2021","journal-title":"BMC Med Genom"},{"issue":"51","key":"2025010818060914700_ski2179-bib-0095","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abj9446","article-title":"The genetic architecture of human cortical folding","volume":"7","author":"van der Meer","year":"2021","journal-title":"Sci Adv"},{"key":"2025010818060914700_ski2179-bib-0096","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2021.118603","article-title":"Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology","volume":"244","author":"Shadrin","year":"2021","journal-title":"Neuroimage"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0097","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/hbm.25029","article-title":"Consortium neuroscience of attention deficit\/hyperactivity disorder and autism spectrum disorder: the ENIGMA adventure","volume":"43","author":"Hoogman","year":"2022","journal-title":"Hum Brain Mapp"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0098","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1176\/appi.ajp.2015.15050641","article-title":"A selective review of cerebral abnormalities in patients with first-episode schizophrenia before and after treatment","volume":"173","author":"Gong","year":"2016","journal-title":"Am J Psychiatr"},{"issue":"8","key":"2025010818060914700_ski2179-bib-0099","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20204185","article-title":"The role of basement membranes in cardiac biology and disease","volume":"41","author":"Boland","year":"2021","journal-title":"Biosci Rep"},{"issue":"3","key":"2025010818060914700_ski2179-bib-0100","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1536\/ihj.21-769","article-title":"Changes in laminin in acute heart failure","volume":"63","author":"Wang","year":"2022","journal-title":"Int Heart J"},{"key":"2025010818060914700_ski2179-bib-0101","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.573433","article-title":"Proteomic analysis of atrial appendages revealed the pathophysiological changes of atrial fibrillation","volume":"11","author":"Liu","year":"2020","journal-title":"Front Physiol"},{"key":"2025010818060914700_ski2179-bib-0102","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2022.910826","article-title":"Integrative analyses identify potential key genes and calcium-signaling pathway in familial atrioventricular nodal reentrant tachycardia using whole-exome sequencing","volume":"9","author":"Huang","year":"2022","journal-title":"Front Cardiovasc Med"},{"issue":"20","key":"2025010818060914700_ski2179-bib-0103","doi-asserted-by":"publisher","DOI":"10.1242\/dev.199691","article-title":"Lamb1a regulates atrial growth by limiting second heart field addition during zebrafish heart development","volume":"148","author":"Derrick","year":"2021","journal-title":"Development"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0104","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1634\/stemcells.2008-0335","article-title":"Lack of laminin gamma1 in embryonic stem cell-derived cardiomyocytes causes inhomogeneous electrical spreading despite intact differentiation and function","volume":"27","author":"Malan","year":"2009","journal-title":"Stem Cell"},{"issue":"1","key":"2025010818060914700_ski2179-bib-0105","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1186\/s13075-015-0661-y","article-title":"Laminin-rich blood vessels display activated growth factor signaling and act as the proliferation centers in Dupuytren's contracture","volume":"17","author":"Viil","year":"2015","journal-title":"Arthritis Res Ther"},{"issue":"11","key":"2025010818060914700_ski2179-bib-0106","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0112457","article-title":"Identification of histological patterns in clinically affected and unaffected palm regions in dupuytren's disease","volume":"9","author":"Alfonso-Rodriguez","year":"2014","journal-title":"PLoS One"},{"issue":"4","key":"2025010818060914700_ski2179-bib-0107","first-page":"203","article-title":"Immunohistochemical expression and distribution of alpha2beta1, alpha6beta1, alpha5beta1 integrins and their extracellular ligands, type IV collagen, laminin and fibronectin in palmar fibromatosis","volume":"143","author":"Magro","year":"1997","journal-title":"Gen Diagn Pathol"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0108","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1083\/jcb.201212032","article-title":"Ablation of astrocytic laminin impairs vascular smooth muscle cell function and leads to hemorrhagic stroke","volume":"202","author":"Chen","year":"2013","journal-title":"J Cell Biol"},{"key":"2025010818060914700_ski2179-bib-0109","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.psyneuen.2016.09.019","article-title":"A pharmacological mouse model suggests a novel risk pathway for postpartum psychosis","volume":"74","author":"Humby","year":"2016","journal-title":"Psychoneuroendocrinology"},{"key":"2025010818060914700_ski2179-bib-0110","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.pharmthera.2019.05.017","article-title":"Laminin-derived peptides: applications in drug delivery systems for targeting","volume":"202","author":"Negishi","year":"2019","journal-title":"Pharmacol Ther"},{"issue":"12","key":"2025010818060914700_ski2179-bib-0111","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1038\/nrd3599","article-title":"Taking aim at the extracellular matrix: CCN proteins as emerging therapeutic targets","volume":"10","author":"Jun","year":"2011","journal-title":"Nat Rev Drug Discov"},{"issue":"2","key":"2025010818060914700_ski2179-bib-0112","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1124\/pr.109.001289","article-title":"Extracellular matrix molecules: potential targets in pharmacotherapy","volume":"61","author":"Jarvelainen","year":"2009","journal-title":"Pharmacol Rev"}],"container-title":["Skin Health and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ski2.179","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ski2.179","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/skinhd\/article-pdf\/2\/4\/ski2.179\/59728733\/skinhd_2_4_e179.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/skinhd\/article-pdf\/2\/4\/ski2.179\/59728733\/skinhd_2_4_e179.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T18:06:17Z","timestamp":1736359577000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/skinhd\/article\/doi\/10.1002\/ski2.179\/7750813"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,17]]},"references-count":112,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,12,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ski2.179","relation":{},"ISSN":["2690-442X"],"issn-type":[{"value":"2690-442X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,12]]},"published":{"date-parts":[[2022,10,17]]},"article-number":"ski2.179"}}