{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T15:28:55Z","timestamp":1788449335856,"version":"build-2803163510"},"reference-count":69,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82473509"],"award-info":[{"award-number":["82473509"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82273504"],"award-info":[{"award-number":["82273504"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82303990"],"award-info":[{"award-number":["82303990"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.ajhg.2026.06.013","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T16:54:54Z","timestamp":1783616094000},"page":"1719-1735","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity"],"prefix":"10.1016","volume":"113","author":[{"given":"Qiaoyu","family":"Cao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anqi","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinjie","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhoukai","family":"Long","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaolan","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxiao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinran","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rushan","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3053-2756","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2026.06.013_bib1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1093\/bjd\/ljad102","article-title":"A review of genotrichoses and hair pathology associated with inherited skin diseases","volume":"189","author":"Doolan","year":"2023","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/1346-8138.16204","article-title":"Update of recent findings in genetic hair disorders","volume":"49","author":"Hayashi","year":"2022","journal-title":"J. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib3","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1111\/bjd.18718","article-title":"Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin","volume":"183","author":"Peled","year":"2020","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib4","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1093\/ced\/llad067","article-title":"Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN","volume":"48","author":"Rayinda","year":"2023","journal-title":"Clin. Exp. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib5","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/ng1163","article-title":"Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin","volume":"34","author":"Levy-Nissenbaum","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib6","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ajhg.2012.10.022","article-title":"Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex","volume":"92","author":"Pasternack","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib7","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/bjd.20089","article-title":"Additional causal SNRPE mutations in hereditary hypotrichosis simplex","volume":"185","author":"Pan","year":"2021","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib8","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/nature08875","article-title":"APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex","volume":"464","author":"Shimomura","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.013_bib9","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1111\/j.1365-2133.2012.11001.x","article-title":"A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family","volume":"167","author":"Li","year":"2012","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib10","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng.276","article-title":"Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis","volume":"41","author":"Wen","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib11","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/j.ajhg.2010.02.025","article-title":"Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture","volume":"86","author":"Shimomura","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib12","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.jid.2017.08.035","article-title":"A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair\/Hypotrichosis","volume":"138","author":"Yu","year":"2018","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib13","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1038\/jid.2012.154","article-title":"A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair\/hypotrichosis","volume":"132","author":"Fujimoto","year":"2012","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib14","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1111\/1523-1747.ep12330568","article-title":"Evidence for genetic heterogeneity in monilethrix","volume":"107","author":"Richard","year":"1996","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib15","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.177588","article-title":"ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation","volume":"9","author":"Wang","year":"2024","journal-title":"JCI Insight"},{"key":"10.1016\/j.ajhg.2026.06.013_bib16","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1126\/science.1133276","article-title":"Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH","volume":"314","author":"Kazantseva","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.013_bib17","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1111\/j.1365-2230.2011.04014.x","article-title":"Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis\/woolly hair in 17 consanguineous families from Pakistan","volume":"36","author":"Khan","year":"2011","journal-title":"Clin. Exp. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib18","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.ajhg.2018.09.011","article-title":"Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex","volume":"103","author":"Romano","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib19","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/s41576-019-0180-9","article-title":"Structural variation in the sequencing era","volume":"21","author":"Ho","year":"2020","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib20","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/s41586-020-2287-8","article-title":"A structural variation reference for medical and population genetics","volume":"581","author":"Collins","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.013_bib21","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1016\/j.cell.2022.06.036","article-title":"A cross-disorder dosage sensitivity map of the human genome","volume":"185","author":"Collins","year":"2022","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.013_bib22","doi-asserted-by":"crossref","DOI":"10.1002\/bies.202300010","article-title":"Disruption of regulatory domains and novel transcripts as disease-causing mechanisms","volume":"45","author":"Allou","year":"2023","journal-title":"Bioessays"},{"key":"10.1016\/j.ajhg.2026.06.013_bib23","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1111\/bjd.19384","article-title":"A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics","volume":"184","author":"Chiu","year":"2021","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib24","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1042\/bj20031794","article-title":"TAB3, a new binding partner of the protein kinase TAK1","volume":"378","author":"Cheung","year":"2004","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2026.06.013_bib25","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.molcel.2004.08.008","article-title":"TAB2 and TAB3 activate the NF-kappaB pathway through binding to polyubiquitin chains","volume":"15","author":"Kanayama","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2026.06.013_bib26","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.106901","article-title":"Ubiquitination-activated TAB-TAK1-IKK-NF-\u03baB axis modulates gene expression for cell survival in the lysosomal damage response","volume":"14","author":"Endo","year":"2025","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2026.06.013_bib27","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/s41392-024-01757-9","article-title":"NF-\u03baB in biology and targeted therapy: new insights and translational implications","volume":"9","author":"Guo","year":"2024","journal-title":"Signal Transduct. Target. Ther."},{"key":"10.1016\/j.ajhg.2026.06.013_bib28","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.202000956","article-title":"NF-\u03baB inhibition in keratinocytes causes RIPK1-mediated necroptosis and skin inflammation","volume":"4","author":"Kumari","year":"2021","journal-title":"Life Sci. Alliance"},{"key":"10.1016\/j.ajhg.2026.06.013_bib29","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20231152","article-title":"Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases","volume":"221","author":"Rosain","year":"2024","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.ajhg.2026.06.013_bib30","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1093\/hmg\/ddi470","article-title":"Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling","volume":"15","author":"Nenci","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib31","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.013_bib32","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.013_bib33","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.06.013_bib34","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1016\/j.ajhg.2026.06.013_bib35","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3389\/fgene.2012.00035","article-title":"Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift","volume":"3","author":"Cingolani","year":"2012","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib36","first-page":"7.23.1","article-title":"Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data","volume":"81","author":"Fromer","year":"2014","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib37","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/bioinformatics\/btv547","article-title":"CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data","volume":"32","author":"Packer","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.013_bib38","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.06.013_bib39","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.06.013_bib40","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/s41580-023-00662-3","article-title":"Local and systemic mechanisms that control the hair follicle stem cell niche","volume":"25","author":"Zhang","year":"2024","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib41","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1016\/j.ajhg.2023.06.009","article-title":"Beyond the exome: What's next in diagnostic testing for Mendelian conditions","volume":"110","author":"Wojcik","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib42","doi-asserted-by":"crossref","DOI":"10.3390\/genes16080905","article-title":"Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics","volume":"16","author":"Pande","year":"2025","journal-title":"Genes"},{"key":"10.1016\/j.ajhg.2026.06.013_bib43","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1186\/s12920-024-02015-1","article-title":"Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application","volume":"17","author":"Atik","year":"2024","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.ajhg.2026.06.013_bib44","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1111\/cge.14764","article-title":"Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing","volume":"108","author":"Amin","year":"2025","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib45","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human genomes","volume":"526","author":"Sudmant","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.013_bib46","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.ijwd.2021.10.004","article-title":"Cutaneous mosaicism: Special considerations for women","volume":"7","author":"Ellis","year":"2021","journal-title":"Int. J. Womens Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib47","doi-asserted-by":"crossref","first-page":"3452","DOI":"10.1016\/j.jaip.2024.09.018","article-title":"Severe Clinical Phenotypes of Heterozygous Females With X-Linked Chronic Granulomatous Disease","volume":"12","author":"Patel","year":"2024","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"10.1016\/j.ajhg.2026.06.013_bib48","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.stemcr.2014.12.012","article-title":"Stable X chromosome reactivation in female human induced pluripotent stem cells","volume":"4","author":"Barakat","year":"2015","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.ajhg.2026.06.013_bib49","first-page":"16","article-title":"X-chromosome inactivation: role in skin disease expression","volume":"95","author":"Happle","year":"2006","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ajhg.2026.06.013_bib50","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1146\/annurev-genet-121415-121955","article-title":"Mosaicism in Cutaneous Disorders","volume":"51","author":"Lim","year":"2017","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib51","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1038\/jhg.2017.84","article-title":"Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene","volume":"62","author":"Esposito","year":"2017","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib52","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1186\/s12864-024-10224-2","article-title":"Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing","volume":"25","author":"Shen","year":"2024","journal-title":"BMC Genom."},{"key":"10.1016\/j.ajhg.2026.06.013_bib53","article-title":"Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the DMD Gene Based on Long-Read Sequencing","volume":"12","author":"Geng","year":"2021","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib54","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s13287-025-04210-y","article-title":"Functional regeneration strategies of hair follicles: advances and challenges","volume":"16","author":"Chu","year":"2025","journal-title":"Stem Cell Res. Ther."},{"key":"10.1016\/j.ajhg.2026.06.013_bib55","doi-asserted-by":"crossref","DOI":"10.3390\/biom15091335","article-title":"The Skin Microenvironment: A Dynamic Regulator of Hair Follicle Development, Cycling and Disease","volume":"15","author":"Song","year":"2025","journal-title":"Biomolecules"},{"key":"10.1016\/j.ajhg.2026.06.013_bib56","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1242\/dev.090662","article-title":"Dermal papilla cell number specifies hair size, shape and cycling and its reduction causes follicular decline","volume":"140","author":"Chi","year":"2013","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2026.06.013_bib57","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.cell.2010.11.049","article-title":"Dynamics between stem cells, niche, and progeny in the hair follicle","volume":"144","author":"Hsu","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.013_bib58","doi-asserted-by":"crossref","first-page":"3918","DOI":"10.1074\/jbc.M608867200","article-title":"TAK1-dependent signaling requires functional interaction with TAB2\/TAB3","volume":"282","author":"Besse","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.06.013_bib59","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/nri.2017.52","article-title":"The non-canonical NF-\u03baB pathway in immunity and inflammation","volume":"17","author":"Sun","year":"2017","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib60","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/intimm\/dxae020","article-title":"TAK1-binding protein 2 (TAB2) and TAB3 are redundantly required for TLR-induced cytokine production in macrophages","volume":"36","author":"Ali","year":"2024","journal-title":"Int. Immunol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib61","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/cr.2010.175","article-title":"NF-\u03baB in the regulation of epithelial homeostasis and inflammation","volume":"21","author":"Wullaert","year":"2011","journal-title":"Cell Res."},{"key":"10.1016\/j.ajhg.2026.06.013_bib62","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1038\/nature00820","article-title":"TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2","volume":"417","author":"Pasparakis","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.013_bib63","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1136\/jmedgenet-2012-101134","article-title":"Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis","volume":"49","author":"Zhang","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2026.06.013_bib64","article-title":"Clinical relevance of loss-of-function mutations of NEMO\/IKBKG","volume":"12","author":"Wang","year":"2025","journal-title":"Genes Dis."},{"key":"10.1016\/j.ajhg.2026.06.013_bib65","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/nri3646","article-title":"Mechanisms regulating skin immunity and inflammation","volume":"14","author":"Pasparakis","year":"2014","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib66","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.jid.2017.08.042","article-title":"NF-\u03baB Participates in Mouse Hair Cycle Control and Plays Distinct Roles in the Various Pelage Hair Follicle Types","volume":"138","author":"Krieger","year":"2018","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2026.06.013_bib67","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0011275","article-title":"Inflammatory mediator TAK1 regulates hair follicle morphogenesis and anagen induction shown by using keratinocyte-specific TAK1-deficient mice","volume":"5","author":"Sayama","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2026.06.013_bib68","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1016\/j.immuni.2021.09.001","article-title":"Disruption of the endopeptidase ADAM10-Notch signaling axis leads to skin dysbiosis and innate lymphoid cell-mediated hair follicle destruction","volume":"54","author":"Sakamoto","year":"2021","journal-title":"Immunity"},{"key":"10.1016\/j.ajhg.2026.06.013_bib69","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2017.11","article-title":"Alopecia areata","volume":"3","author":"Pratt","year":"2017","journal-title":"Nat. Rev. Dis. Primers"}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2026.08.009","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000}},{"DOI":"10.1016\/j.ajhg.2026.08.009","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726002399?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726002399?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T20:29:49Z","timestamp":1786998589000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929726002399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":69,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["S0002929726002399"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.06.013","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.06.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 American Society of Human Genetics. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}