{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:47:06Z","timestamp":1759333626377},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2001,7,25]],"date-time":"2001-07-25T00:00:00Z","timestamp":996019200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioEssays"],"published-print":{"date-parts":[[2001,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The skin\u2010cancer\u2010prone hereditary disease xeroderma pigmentosum is typically characterized by defective nucleotide excision repair (NER) of DNA. However, since all subunits of the core basal transcription factor TFIIH are required for both RNA polymerase II basal transcription and NER, some mutations affecting genes that encode TFIIH subunits can result in clinical phenotypes associated with defective basal transcription. Among these is a syndrome called trichothiodystrophy (TTD) in which the prominent features are brittle hair and nails, and dry scaly skin. A recent study provides dramatic support for the so\u2010called transcription hypothesis of TTD.(<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib1\">1<\/jats:ext-link>) Specifically, several patients have been shown to carry a mutation in the XPD gene, which encodes a thermolabile form of XPD protein, resulting in loss of hair during febrile episodes. BioEssays 23:671\u2013673, 2001. \u00a9 2001 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/bies.1094","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:50:36Z","timestamp":1030312236000},"page":"671-673","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hot news: temperature\u2010sensitive humans explain hereditary disease"],"prefix":"10.1002","volume":"23","author":[{"given":"Errol C.","family":"Friedberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,7,25]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/85864"},{"key":"e_1_2_1_3_2","first-page":"612","article-title":"The one gene\u2010one enzyme hypothesis","volume":"33","author":"Horowitz NH","year":"1948","journal-title":"Genetics"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(08)60082-6"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8465201"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90624-Y"},{"key":"e_1_2_1_7_2","first-page":"233","volume-title":"DNA repair and mutagenesis","author":"Friedberg EC","year":"1995"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8091230"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"15965","DOI":"10.1016\/S0021-9258(17)33956-X","article-title":"Isolation of active recombinant XPG protein, a human repair endonuclease","volume":"269","author":"O'Donovan A","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1983.tb00068.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1001\/archderm.1980.01640360049017","article-title":"Trichothiodystrophy: sulfur\u2010deficient brittle hair as a marker for a neuroectodermal symptom complex","volume":"166","author":"Price VH","year":"1980","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-1878(199802)20:2<146::AID-BIES7>3.0.CO;2-R"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.5.1357"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1101\/SQB.1994.059.01.036"},{"key":"e_1_2_1_15_2","first-page":"1981","article-title":"A mouse model for the basal transcription\/DNA repair syndrome trichothiodystrophy","author":"de Boer J","year":"1998","journal-title":"Mol Cell"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.950180908"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/35013197"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80827-2"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117589"},{"key":"e_1_2_1_20_2","first-page":"109","article-title":"Observations on the rate and mechanism of hemolysis in individuals with Hb Z\u00fcrich [His E7(63)\u03b2\u2010> Arg]: II. 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