[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0092-8674(84)90456-2; PubMed=6210150 [NCBI, ExPASy, EBI, Israel, Japan]
Marchuk D.,
McCrohon S.,
Fuchs E.;
"Remarkable conservation of structure among intermediate filament genes.";
Cell 39:491-498(1984).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2580298 [NCBI, ExPASy, EBI, Israel, Japan]
Marchuk D.,
McCrohon S.,
Fuchs E.;
"Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.";
Proc. Natl. Acad. Sci. U.S.A. 82:1609-1613(1985).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-94.
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-94.
TISSUE=Brain, Pancreas, and Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 64-472.
TISSUE=Epidermis;
DOI=10.1016/0092-8674(82)90424-X; PubMed=6186381 [NCBI, ExPASy, EBI, Israel, Japan]
Hanukoglu I.,
Fuchs E.;
"The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins.";
Cell 31:243-252(1982).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132, AND VARIANT DM-EBS ASP-129.
DOI=10.1111/1523-1747.ep12342985; PubMed=8601736 [NCBI, ExPASy, EBI, Israel, Japan]
Chan Y.-M.,
Cheng J.,
Gedde-Dahl T. Jr.,
Niemi K.M.,
Fuchs E.;
"Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.";
J. Invest. Dermatol. 106:327-334(1996).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, AND VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125.
DOI=10.1016/0092-8674(91)90051-Y; PubMed=1717157 [NCBI, ExPASy, EBI, Israel, Japan]
Coulombe P.A.,
Hutton M.E.,
Letai A.,
Hebert A.,
Paller A.S.,
Fuchs E.;
"Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.";
Cell 66:1301-1311(1991).
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[8]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, AND VARIANT K-EBS PHE-122.
DOI=10.1093/hmg/3.7.1171; PubMed=7526926 [NCBI, ExPASy, EBI, Israel, Japan]
Yamanishi K.,
Matsuki M.,
Konishi K.,
Yasuno H.;
"A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.";
Hum. Mol. Genet. 3:1171-1172(1994).
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[9]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 352-424, AND VARIANT K-EBS THR-413.
Fujiwara H.;
"A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family.";
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
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[10]
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TISSUE SPECIFICITY.
DOI=10.1046/j.1523-1747.1998.00097.x; PubMed=9457912 [NCBI, ExPASy, EBI, Israel, Japan]
Bowden P.E.,
Hainey S.D.,
Parker G.,
Jones D.O.,
Zimonjic D.,
Popescu N.,
Hodgins M.B.;
"Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle.";
J. Invest. Dermatol. 110:158-164(1998).
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[11]
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INTERACTION WITH TRADD.
DOI=10.1083/jcb.200103078; PubMed=11684708 [NCBI, ExPASy, EBI, Israel, Japan]
Inada H.,
Izawa I.,
Nishizawa M.,
Fujita E.,
Kiyono T.,
Takahashi T.,
Momoi T.,
Inagaki M.;
"Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD.";
J. Cell Biol. 155:415-426(2001).
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[12]
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VARIANT K-EBS PRO-384.
PubMed=1720261 [NCBI, ExPASy, EBI, Israel, Japan]
Bonifas J.M.,
Rothman A.L.,
Epstein E.H. Jr.;
"Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.";
Science 254:1202-1205(1991).
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[13]
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VARIANT WC-EBS GLU-375 DEL.
DOI=10.1093/hmg/2.11.1971; PubMed=7506606 [NCBI, ExPASy, EBI, Israel, Japan]
Chen M.A.,
Bonifas J.M.,
Matsumura K.,
Blumenfeld A.,
Epstein E.H. Jr.;
"A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.";
Hum. Mol. Genet. 2:1971-1972(1993).
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[14]
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VARIANT K-EBS ARG-272.
PubMed=7682883 [NCBI, ExPASy, EBI, Israel, Japan]
Humphries M.M.,
Sheils D.M.,
Farrar G.J.,
Kumar-Singh R.,
Kenna P.F.,
Mansergh F.C.,
Jordan S.A.,
Young M.M.,
Humphries P.;
"A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.";
Hum. Mutat. 2:37-42(1993).
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[15]
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VARIANT DM-EBS HIS-125.
DOI=10.1111/1523-1747.ep12365079; PubMed=7688405 [NCBI, ExPASy, EBI, Israel, Japan]
Stephens K.,
Sybert V.P.,
Wijsman E.M.,
Ehrlich P.,
Spencer A.;
"A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.";
J. Invest. Dermatol. 101:240-243(1993).
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[16]
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VARIANT AREBS ALA-144.
DOI=10.1038/ng0493-327; PubMed=7526933 [NCBI, ExPASy, EBI, Israel, Japan]
Hovnanian A.,
Pollack E.,
Hilal L.,
Rochat A.,
Prost C.,
Barrandon Y.,
Goossens M.;
"A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.";
Nat. Genet. 3:327-331(1993).
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[17]
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VARIANT WC-EBS MET-270.
DOI=10.1038/ng1193-294; PubMed=7506097 [NCBI, ExPASy, EBI, Israel, Japan]
Rugg E.L.,
Morley S.M.,
Smith F.J.D.,
Boxer M.,
Tidman M.J.,
Navsaria H.A.,
Leigh I.M.,
Lane E.B.;
"Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.";
Nat. Genet. 5:294-300(1993).
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[18]
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VARIANTS WC-EBS ILE-119; ASP-274; ASN-377 AND CYS-388, AND VARIANTS DM-EBS ARG-120; CYS-125 AND SER-125.
DOI=10.1111/1523-1747.ep12323846; PubMed=7561171 [NCBI, ExPASy, EBI, Israel, Japan]
Chen H.,
Bonifas J.M.,
Matsumura K.,
Ikeda S.,
Leyden W.A.,
Epstein E.H. Jr.;
"Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.";
J. Invest. Dermatol. 105:629-632(1995).
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[19]
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VARIANT WC-EBS ILE-119.
DOI=10.1111/1523-1747.ep12336051; PubMed=9284105 [NCBI, ExPASy, EBI, Israel, Japan]
Hu Z.L.,
Smith L.,
Martins S.,
Bonifas J.M.,
Chen H.,
Epstein E.H. Jr.;
"Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote.";
J. Invest. Dermatol. 109:360-364(1997).
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[20]
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VARIANT DM-EBS THR-119.
DOI=10.1046/j.1523-1747.1998.00388.x; PubMed=9804355 [NCBI, ExPASy, EBI, Israel, Japan]
Shemanko C.S.,
Mellerio J.E.,
Tidman M.J.,
Lane E.B.,
Eady R.A.J.;
"Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).";
J. Invest. Dermatol. 111:893-895(1998).
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[21]
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VARIANT WC-EBS GLY-273.
DOI=10.1046/j.1523-1747.1998.00374.x; PubMed=9804357 [NCBI, ExPASy, EBI, Israel, Japan]
Mueller F.B.,
Kuester W.,
Bruckner-Tuderman L.,
Korge B.P.;
"Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.";
J. Invest. Dermatol. 111:900-902(1998).
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[22]
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VARIANT DM-EBS CYS-125.
DOI=10.1046/j.1365-2133.1999.03124.x; PubMed=10583131 [NCBI, ExPASy, EBI, Israel, Japan]
Sasaki Y.,
Shimizu H.,
Akiyama M.,
Hiraoka Y.,
Takizawa Y.,
Yamada S.,
Morishima Y.,
Yamanishi K.,
Aiso S.,
Nishikawa T.;
"A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.";
Br. J. Dermatol. 141:747-748(1999).
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[23]
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VARIANT K-EBS HIS-415, AND VARIANT DM-EBS GLN-419.
Hut P.H.L.,
van der Vlies P.,
Jonkman M.F.,
Shimizu H.,
Buys C.H.C.M.,
Scheffer H.;
"Genomic keratin 14 mutation detection in epidermolysis bullosa simplex.";
Eur. J. Hum. Genet. Suppl. 7:121-121(1999).
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[24]
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VARIANT WC-EBS ASN-116, VARIANT DM-EBS SER-123, VARIANT K-EBS PRO-143, VARIANT THR-94, AND SEQUENCE REVISION TO 25 AND 43.
DOI=10.1046/j.1523-1747.1999.00495.x; PubMed=9989794 [NCBI, ExPASy, EBI, Israel, Japan]
Soerensen C.B.,
Ladekjaer-Mikkelsen A.-S.,
Andresen B.S.,
Brandrup F.,
Veien N.K.,
Buus S.K.,
Anton-Lamprecht I.,
Kruse T.A.,
Jensen P.K.A.,
Eiberg H.,
Bolund L.,
Gregersen N.;
"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.";
J. Invest. Dermatol. 112:184-190(1999).
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[25]
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VARIANT DM-EBS HIS-125.
DOI=10.1046/j.1365-2133.2000.03304.x; PubMed=10730767 [NCBI, ExPASy, EBI, Israel, Japan]
Shemanko C.S.,
Horn H.M.,
Keohane S.G.,
Hepburn N.,
Kerr A.I.G.,
Atherton D.J.,
Tidman M.J.,
Lane E.B.;
"Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.";
Br. J. Dermatol. 142:315-320(2000).
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[26]
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VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419, VARIANTS K-EBS ASP-247 AND HIS-415, AND VARIANT WC-EBS LYS-422.
DOI=10.1046/j.1523-1747.2000.00928.x; PubMed=10733662 [NCBI, ExPASy, EBI, Israel, Japan]
Hut P.H.L.,
van der Vlies P.,
Jonkman M.F.,
Verlind E.,
Shimizu H.,
Buys C.H.C.M.,
Scheffer H.;
"Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.";
J. Invest. Dermatol. 114:616-619(2000).
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[27]
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VARIANTS DM-EBS CYS-125 AND HIS-415, AND VARIANT K-EBS PRO-134.
DOI=10.1002/(SICI)1097-0223(200005)20:5<371::AID-PD818>3.0.CO;2-5; PubMed=10820403 [NCBI, ExPASy, EBI, Israel, Japan]
Rugg E.L.,
Baty D.,
Shemanko C.S.,
Magee G.,
Polak S.,
Bergman R.,
Kadar T.,
Boxer M.,
Falik-Zaccai T.,
Borochowitz Z.,
Lane E.B.;
"DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.";
Prenat. Diagn. 20:371-377(2000).
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[28]
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VARIANT DM-EBS THR-119, AND VARIANT K-EBS VAL-119.
DOI=10.1046/j.0022-202x.2001.01508.x; PubMed=11710919 [NCBI, ExPASy, EBI, Israel, Japan]
Cummins R.E.,
Klingberg S.,
Wesley J.,
Rogers M.,
Zhao Y.,
Murrell D.F.;
"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.";
J. Invest. Dermatol. 117:1103-1107(2001).
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[29]
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VARIANTS WC-EBS HIS-388 AND CYS-415, AND VARIANT DM-EBS HIS-125.
DOI=10.1001/archderm.139.4.498; PubMed=12707098 [NCBI, ExPASy, EBI, Israel, Japan]
Ciubotaru D.,
Bergman R.,
Baty D.,
Indelman M.,
Pfendner E.,
Petronius D.,
Moualem H.,
Kanaan M.,
Ben Amitai D.,
McLean W.H.I.,
Uitto J.,
Sprecher E.;
"Epidermolysis bullosa simplex in Israel: clinical and genetic features.";
Arch. Dermatol. 139:498-505(2003).
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[30]
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ERRATUM.
Ciubotaru D.,
Bergman R.,
Baty D.,
Indelman M.,
Pfendner E.,
Petronius D.,
Moualem H.,
Kanaan M.,
Ben Amitai D.,
McLean W.H.I.,
Uitto J.,
Sprecher E.;
Arch. Dermatol. 139:1084-1084(2003).
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[31]
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VARIANTS DM-EBS PRO-130 AND GLN-419, AND VARIANT WC-EBS MET-408.
DOI=10.1002/humu.9124; PubMed=12655565 [NCBI, ExPASy, EBI, Israel, Japan]
Schuilenga-Hut P.H.L.,
Vlies P.,
Jonkman M.F.,
Waanders E.,
Buys C.H.C.M.,
Scheffer H.;
"Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.";
Hum. Mutat. 21:447-447(2003).
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[32]
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VARIANTS DM-EBS SER-128 DEL AND PRO-416, AND VARIANT WC-EBS CYS-148.
DOI=10.1046/j.1523-1747.2003.12052.x; PubMed=12603865 [NCBI, ExPASy, EBI, Israel, Japan]
Wood P.,
Baty D.U.,
Lane E.B.,
McLean W.H.I.;
"Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.";
J. Invest. Dermatol. 120:495-497(2003).
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[33]
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VARIANTS DM-EBS LYS-123 AND GLY-125, AND VARIANT WC-EBS LEU-133.
DOI=10.1111/j.0906-6705.2004.0120.x; PubMed=14987259 [NCBI, ExPASy, EBI, Israel, Japan]
Csikos M.,
Szalai Z.,
Becker K.,
Sebok B.,
Schneider I.,
Horvath A.,
Karpati S.;
"Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.";
Exp. Dermatol. 13:185-191(2004).
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[34]
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INVOLVEMENT IN NFJS, AND INVOLVEMENT IN DPR.
DOI=10.1086/507792; PubMed=16960809 [NCBI, ExPASy, EBI, Israel, Japan]
Lugassy J.,
Itin P.,
Ishida-Yamamoto A.,
Holland K.,
Huson S.,
Geiger D.,
Hennies H.C.,
Indelman M.,
Bercovich D.,
Uitto J.,
Bergman R.,
McGrath J.A.,
Richard G.,
Sprecher E.;
"Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.";
Am. J. Hum. Genet. 79:724-730(2006).
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[35]
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VARIANT WC-EBS VAL-119, AND VARIANTS DM-EBS HIS-125 AND CYS-125.
DOI=10.1111/j.1365-2133.2006.07285.x; PubMed=16882168 [NCBI, ExPASy, EBI, Israel, Japan]
Yasukawa K.,
Sawamura D.,
Goto M.,
Nakamura H.,
Jung S.-Y.,
Kim S.-C.,
Shimizu H.;
"Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.";
Br. J. Dermatol. 155:313-317(2006).
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[36]
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VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417, VARIANTS K-EBS LEU-133; THR-272 AND PRO-384, AND VARIANTS WC-EBS PRO-211 AND GLU-411 DEL.
DOI=10.1002/humu.9437; PubMed=16786515 [NCBI, ExPASy, EBI, Israel, Japan]
Mueller F.B.,
Kuester W.,
Wodecki K.,
Almeida H. Jr.,
Bruckner-Tuderman L.,
Krieg T.,
Korge B.P.,
Arin M.J.;
"Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.";
Hum. Mutat. 27:719-720(2006).
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