{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T09:08:14Z","timestamp":1791018494874,"version":"4.1.0"},"reference-count":39,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5351","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1998,1,30]]},"abstract":"<jats:p>\n            There are several forms of hereditary human hair loss, known collectively as alopecias, the molecular bases of which are entirely unknown. A kindred with a rare, recessively inherited type of alopecia universalis was used to search for a locus by homozygosity mapping, and linkage was established in a 6-centimorgan interval on chromosome 8p12 (the logarithm of the odds favoring linkage score was 6.19). The human homolog of a murine gene,\n            <jats:italic>hairless<\/jats:italic>\n            , was localized in this interval by radiation hybrid mapping, and a missense mutation was found in affected individuals. Human\n            <jats:italic>hairless<\/jats:italic>\n            encodes a putative single zinc finger transcription factor protein with restricted expression in the brain and skin.\n          <\/jats:p>","DOI":"10.1126\/science.279.5351.720","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T09:42:47Z","timestamp":1027762967000},"page":"720-724","source":"Crossref","is-referenced-by-count":357,"title":["Alopecia Universalis Associated with a Mutation in the Human\n            <i>hairless<\/i>\n            Gene"],"prefix":"10.1126","volume":"279","author":[{"given":"Wasim","family":"Ahmad","sequence":"first","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Faiyaz ul Haque","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Brancolini","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui C.","family":"Tsou","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayed","family":"ul Haque","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HaMut","family":"Lam","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent M.","family":"Aita","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Owen","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. 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Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter B.","family":"Cserhalmi-Friedman","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Leask","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. 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Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmud","family":"Ahmad","sequence":"additional","affiliation":[{"name":"W. Ahmad, H. C. Tsou, H. Lam, V. M. Aita, J. Frank, P. B. Cserhalmi-Friedman, M. Peacocke, A. M. 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Christiano, Department of Dermatology and Department of Genetics and Development, Columbia University, 630 West 168 Street, VC-15-526, New York, NY 10032, USA."},{"name":"M. F. ul Haque, S. ul Haque, M. Ahmad, Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan."},{"name":"V. Brancolini and J. Ott, Laboratory for Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA."},{"name":"J. Owen and M. deBlaquiere, Research Genetics, Inc., 2130 Memorial Parkway SW, Huntsville, AL 35801, USA."},{"name":"A. Leask, FibroGen, Inc., 260 Littlefield Avenue, South San Francisco, CA 94080, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/0168-9525(92)90350-D","volume":"8","author":"Hardy M. H.","year":"1992","unstructured":"Hardy M. H., Trends Genet. 8, 159 (1992);","journal-title":"Trends Genet."},{"key":"e_1_3_1_2_3","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/(SICI)1097-0177(199604)205:4<379::AID-AJA2>3.0.CO;2-F","volume":"205","author":"Rosenquist T. A.","year":"1996","unstructured":"Rosenquist T. A., Martin G. R., Dev. Dyn. 205, 379 (1996).","journal-title":"Dev. Dyn."},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90276-3"},{"key":"e_1_3_1_4_2","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1101\/gad.10.2.165","volume":"10","author":"Guo L.","year":"1996","unstructured":"Guo L., Degenstein L., Fuchs E., Genes Dev. 10, 165 (1996).","journal-title":"Genes Dev."},{"key":"e_1_3_1_5_2","first-page":"700","volume":"9","author":"Zhou P.","year":"1995","unstructured":"Zhou P., Byrne C., Jacobs J., Fuchs E., ibid. 9, 700 (1995).","journal-title":"ibid."},{"key":"e_1_3_1_6_2","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1083\/jcb.137.5.1091","volume":"137","author":"Koch P. J.","year":"1997","unstructured":"Koch P. J., et al., J. Cell Biol. 137, 1091 (1997).","journal-title":"J. Cell Biol."},{"key":"e_1_3_1_7_2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/372103a0","volume":"372","author":"Nehls M.","year":"1994","unstructured":"Nehls M., Pfeifer D., Schorpp M., Hedrich H., Boehm T., Nature 372, 103 (1994);","journal-title":"Nature"},{"key":"e_1_3_1_7_3","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1006\/geno.1995.1187","volume":"28","author":"Segre J.","year":"1995","unstructured":"Segre J., Nemhauser J. L., Taylor B. A., Nadeau J. H., Lander E. S., Genomics 28, 549 (1995);","journal-title":"Genomics"},{"key":"e_1_3_1_7_4","doi-asserted-by":"crossref","first-page":"9661","DOI":"10.1073\/pnas.93.18.9661","volume":"93","author":"Sch\u00fcddenkopf K.","year":"1996","unstructured":"Sch\u00fcddenkopf K., Schorpp M., Boehm T., Proc. Natl. Acad. Sci. U.S.A. 93, 9661 (1996).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_1_8_2","unstructured":"A. Rook and K. Dawber Diseases of the Hair and Scalp (Blackwell Oxford UK ed. 2 1991) p.136;"},{"key":"e_1_3_1_8_3","doi-asserted-by":"crossref","first-page":"95S","DOI":"10.1016\/S0002-9343(99)80065-5","volume":"98","author":"Bergfeld W. F.","year":"1995","unstructured":"Bergfeld W. F., Am. J. Med. 98, 95S (1995).","journal-title":"Am. J. Med."},{"key":"e_1_3_1_9_2","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/j.1365-2133.1980.tb07664.x","volume":"102","author":"Muller H. K.","year":"1980","unstructured":"Muller H. K., et al., Br. J. Dermatol. 102, 609 (1980).","journal-title":"Br. J. Dermatol."},{"key":"e_1_3_1_10_2","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0959-437X(95)80048-4","volume":"5","author":"Sheffield V. C.","year":"1995","unstructured":"Sheffield V. C., Nishimura D. Y., Stone E. M., Curr. Opin. Genet. Dev. 5, 335 (1995).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"e_1_3_1_11_2","unstructured":"Blood samples were collected from 36 members of the AU family according to local informed consent procedures. DNA was isolated according to standard techniques (29). Fluorescent automated genotyping for the genome-wide linkage search was carried out at as a service by Research Genetics with 386 markers covering the genome at about 10-cM intervals."},{"key":"e_1_3_1_12_2","unstructured":"Refined and more extensive screening of all regions showing homozygosity in affected and unaffected family members was carried out with primers obtained from Research Genetics or in the Genome Data Base (17). Analysis of microsatellite markers consisted of end-labeling one primer with [\u03b3- 33 P]deoxyadenosine triphosphate; a PCR reaction consisting of 7 min at 95\u00b0C followed by 27 cycles of 1 min at 95\u00b0C 1 min at 55\u00b0C and 1 min at 72\u00b0C; and electrophoresis in a 6% polyacrylamide gel (Sequa-gel; Action Scientific Atlanta GA). Microsatellite markers were visualized by exposure of the gel to autoradiography and genotypes were assigned by visual inspection."},{"key":"e_1_3_1_13_2","unstructured":"Statistical calculations for linkage analysis were carried out with the computer program FASTLINK version 3.0P ["},{"key":"e_1_3_1_13_3","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1159\/000154358","volume":"46","author":"Schaffer A. A.","year":"1996","unstructured":"Schaffer A. A., Hum. Hered. 46, 226 (1996);","journal-title":"Hum. Hered."},{"key":"e_1_3_1_13_4","unstructured":"] which enables all inbreeding loops in the family to be retained and has the capability for two-point analysis. Autosomal recessive with complete penetrance was assumed with a disease allele frequency of 0.0001. The lod scores were calculated with equal allele frequencies; however results did not change when the frequency of the marker allele in association with the disease allele was set as high as 0.9. Multipoint analysis was not possible because of the large number of inbreeding loops and the complexity of the pedigree."},{"key":"e_1_3_1_14_2","first-page":"173","volume":"15","author":"Brooke H. C.","year":"1924","unstructured":"Brooke H. C., J. Hered. 15, 173 (1924);","journal-title":"J. Hered."},{"key":"e_1_3_1_14_3","doi-asserted-by":"crossref","first-page":"7717","DOI":"10.1073\/pnas.91.16.7717","volume":"91","author":"Cachon-Gonzalez M. B.","year":"1994","unstructured":"Cachon-Gonzalez M. B., et al., Proc. Natl. Acad. Sci. U.S.A. 91, 7717 (1994).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_1_15_2","unstructured":"For RT-PCR of human hairless cDNA sequences total RNA was extracted from cultured skin fibroblasts from hair-bearing skin from a control individual according to standard methods (29). We reverse transcribed human hairless mRNAs with mouse mammary leukemia virus RT (Gibco-BRL) using an oligo-deoxyribosylthymine primer (Pharmacia). PCR was carried out with the following primers constructed on the basis of the mouse hairless sequence (GenBank accession number ): 5\u2032-TGAGGGCTCTGTCCTCCTGC-3\u2032 (sense) and 5\u2032-GCTGGCTCCCTGGTGGTAGA-3\u2032 (antisense). PCR conditions were 5 min at 95\u00b0C followed by 35 cycles of 1 min at 95\u00b0C 1 min at 55\u00b0C and 1 min at 72\u00b0C with AmpliTaq Gold DNA polymerase (Perkin-Elmer). After direct sequencing of the human cDNA exon-based primers were designed and used to amplify genomic DNA as template and directly sequenced with the ABI 310 Automated Sequencer. The intron-exon borders were determined by comparison of the cDNA and the genomic DNA sequences at both the 5\u2032 donor and 3\u2032 acceptor splice junctions. The human hairless sequence has been deposited in GenBank (accession number AFO39196)."},{"key":"e_1_3_1_16_2","doi-asserted-by":"crossref","first-page":"7832","DOI":"10.1523\/JNEUROSCI.16-24-07832.1996","volume":"16","author":"Thompson C. C.","year":"1996","unstructured":"Thompson C. C., J. Neurosci. 16, 7832 (1996).","journal-title":"J. Neurosci."},{"key":"e_1_3_1_17_2","unstructured":"The human multiple tissue Northern blot containing 2 \u03bcg of polyadenylated [poly(A) + ] mRNA from eight tissues was obtained from Clontech (Palo Alto CA) and hybridized according to the manufacturers' recommendations with a random primed radiolabeled probe containing exons 13 to 18 of human hairless generated as described in (14) and hybridized with ExpressHyb Solution (Clontech). Poly(A) + mRNA was extracted from cultured skin fibroblasts from hair-bearing skin from a control individual according to standard methods (29) and a Northern blot containing 2 \u03bcg of poly(A) + mRNA was hybridized with the same probe under identical conditions."},{"key":"e_1_3_1_18_2","unstructured":"See the Genome Data Base at"},{"key":"e_1_3_1_19_2","unstructured":"A segment of human hairless intron 13 was PCR- amplified and used for radiation hybrid mapping with the G3 panel by Research Genetics. Primers were as follows: 5\u2032-TATGTCACCAAGGGCCAGCC-3\u2032 (sense) and 5\u2032-TCAGGGTAGGGGGTCATGCC-3\u2032 (antisense). PCR conditions were 5 min at 95\u00b0C followed by 35 cycles of 1 min at 95\u00b0C 1 min at 55\u00b0C and 1 min at 72\u00b0C with AmpliTaq Gold DNA polymerase (Perkin-Elmer). PCR primers specifically amplified human hairless and did not cross-hybridize with the hamster DNA used in the radiation hybrid panel."},{"key":"e_1_3_1_20_2","unstructured":"See"},{"key":"e_1_3_1_21_2","unstructured":"See"},{"key":"e_1_3_1_22_2","unstructured":"Primers for specific amplification of exon 15 were placed in the flanking introns: 5\u2032-AGTGCCAGGATTACAGGCGT-3\u2032 (sense intron 15) and 5\u2032-CTGAGGAGGAAAGAGCGCTC-3\u2032 (sense intron 16). PCR fragments were purified on AGTC Centriflex columns (Edge BioSystems Gaithersburg MD) and sequenced directly with POP-6 polymer on an ABI Prism 310 Automated Sequencer (Perkin-Elmer). The mutation was verified by restriction endonuclease digestion with Hga I according to the manufacturer's specifications (New England Biolabs)."},{"key":"e_1_3_1_23_2","doi-asserted-by":"crossref","first-page":"10325","DOI":"10.1073\/pnas.90.21.10325","volume":"90","author":"Ganguly A.","year":"1993","unstructured":"Ganguly A., Rock M. J., Prockop D. J., Proc. Natl. Acad. Sci. U.S.A. 90, 10325 (1993).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_1_24_2","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/0092-8674(88)90201-2","volume":"54","author":"Stoye J. P.","year":"1988","unstructured":"Stoye J. P., Fenner S., Greenoak G. E., Moran J. M., Cell 54, 383 (1988).","journal-title":"Cell"},{"key":"e_1_3_1_25_2","first-page":"2235","volume":"13","author":"Arceci R. J.","year":"1993","unstructured":"Arceci R. J., King A. A. J., Simon M. C., Orkin S. H., Wilson D. B., Mol. Cell. Biol. 13, 2235 (1993).","journal-title":"Mol. Cell. Biol."},{"key":"e_1_3_1_26_2","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/mrd.1080300302","volume":"30","author":"H\u00f6\u00f6g C.","year":"1991","unstructured":"H\u00f6\u00f6g C., Schalling M., Grunder-Brundell E., Daneholt B., Mol. Reprod. Dev. 30, 173 (1991).","journal-title":"Mol. Reprod. Dev."},{"key":"e_1_3_1_27_2","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.4049\/jimmunol.125.4.1558","volume":"125","author":"Morrissey P. J.","year":"1980","unstructured":"Morrissey P. J., Parkinson D. R., Schwartz R. S., Waksal S. D., J. Immunol. 125, 1558 (1980).","journal-title":"J. Immunol."},{"key":"e_1_3_1_28_2","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/1523-1747.ep12263512","volume":"83","author":"Gallagher C. H.","year":"1984","unstructured":"Gallagher C. H., Path F. R. C., Canfield P. J., Greenoak G. E., Reeve V. E., J. Invest. Dermatol. 83, 169 (1984).","journal-title":"J. Invest. Dermatol."},{"key":"e_1_3_1_29_2","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/humu.1380030304","volume":"3","author":"Semenza G. L.","year":"1994","unstructured":"Semenza G. L., Hum. Mutat. 3, 180 (1994);","journal-title":"Hum. Mutat."},{"key":"e_1_3_1_29_3","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1056\/NEJM199601043340108","volume":"334","author":"Latchman D. S.","year":"1996","unstructured":"Latchman D. S., N. Engl. J. Med. 334, 28 (1996);","journal-title":"N. Engl. J. Med."},{"key":"e_1_3_1_29_4","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0959-437X(96)80011-6","volume":"6","author":"Engelkamp D.","year":"1996","unstructured":"Engelkamp D., van Heyningen V., Curr. Opin. Genet. Dev. 6, 334 (1996).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"e_1_3_1_30_2","unstructured":"J. Sambrook E. G. Fritsch T. Maniatis Molecular Cloning A Laboratory Manual (Cold Spring Harbor Laboratory Press Cold Spring Harbor NY ed. 2 1989)."},{"key":"e_1_3_1_31_2","unstructured":"We sincerely thank the family members for their participation in this work S. Malik and S. M. Zaidi for their assistance during our stay in Chakwal B. J. Longley for expert dermatopathological advice and M. Grossman and P. Schneiderman for their infinite patience. Informed consent for the publication of the photographs as well as the pedigree was obtained through personal visits to the family members. Supported in part by grants from Quaid-i-Azam University Islamabad Pakistan (M.A.) the National Alopecia Areata Foundation (A.M.C.) NIH\u2013National Human Genome Research Institute HG-00008 (J.O.) and NIH\u2013National Institute of Arthritis and Musculoskeletal and Skin Diseases Research Center P30AR44535 (M.P. J.O. and A.M.C.)."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.279.5351.720","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T05:58:22Z","timestamp":1705125502000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.279.5351.720"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,1,30]]},"references-count":39,"journal-issue":{"issue":"5351","published-print":{"date-parts":[[1998,1,30]]}},"alternative-id":["10.1126\/science.279.5351.720"],"URL":"https:\/\/doi.org\/10.1126\/science.279.5351.720","relation":{},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,1,30]]}}}