[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1073/pnas.87.23.9333; PubMed=1979171 [NCBI, ExPASy, EBI, Israel, Japan]
Phillips M.A.,
Stewart B.E.,
Qin Q.,
Chakravarty R.,
Floyd E.E.,
Jetten A.M.,
Rice R.H.;
"Primary structure of keratinocyte transglutaminase.";
Proc. Natl. Acad. Sci. U.S.A. 87:9333-9337(1990).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Keratinocyte;
DOI=10.1016/0006-291X(91)91651-R; PubMed=1673840 [NCBI, ExPASy, EBI, Israel, Japan]
Yamanishi K.,
Liew F.M.,
Konishi K.,
Yasuno H.,
Doi H.,
Hirano J.,
Fukushima S.;
"Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture.";
Biochem. Biophys. Res. Commun. 175:906-913(1991).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1670769 [NCBI, ExPASy, EBI, Israel, Japan]
Kim H.C.,
Idler W.W.,
Kim I.-G.,
Han J.H.,
Chung S.-I.,
Steinert P.M.;
"The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones.";
J. Biol. Chem. 266:536-539(1991).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=1346394 [NCBI, ExPASy, EBI, Israel, Japan]
Phillips M.A.,
Stewart B.E.,
Rice R.H.;
"Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function.";
J. Biol. Chem. 267:2282-2286(1992).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1348508 [NCBI, ExPASy, EBI, Israel, Japan]
Kim I.-G.,
McBride O.W.,
Wang M.,
Kim S.-Y.,
Idler W.W.,
Steinert P.M.;
"Structure and organization of the human transglutaminase 1 gene.";
J. Biol. Chem. 267:7710-7717(1992).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
PubMed=1381356 [NCBI, ExPASy, EBI, Israel, Japan]
Yamanishi K.,
Inazawa J.,
Liew F.,
Nonomura K.,
Ariyama T.,
Yasuno H.,
Abe T.,
Doi H.,
Hirano J.,
Fukushima S.;
"Structure of the gene for human transglutaminase 1.";
J. Biol. Chem. 267:17858-17863(1992).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Placenta;
DOI=10.1073/pnas.89.10.4476; PubMed=1350092 [NCBI, ExPASy, EBI, Israel, Japan]
Polakowska R.R.,
Eickbush T.,
Falciano V.,
Razvi F.,
Goldsmith L.A.;
"Organization and evolution of the human epidermal keratinocyte transglutaminase I gene.";
Proc. Natl. Acad. Sci. U.S.A. 89:4476-4480(1992).
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[8]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Oesophagus;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[9]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS TYR-42; ILE-372; MET-518; CYS-607; LEU-755 AND VAL-802.
NIEHS SNPs program;
Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases.
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[10]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
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[11]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=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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[12]
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NUCLEOTIDE SEQUENCE [MRNA] OF 6-551.
DOI=10.1111/1523-1747.ep12464554; PubMed=1704039 [NCBI, ExPASy, EBI, Israel, Japan]
Polakowska R.,
Herting E.,
Goldsmith L.A.;
"Isolation of cDNA for human epidermal type I transglutaminase.";
J. Invest. Dermatol. 96:285-288(1991).
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[13]
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NUCLEOTIDE SEQUENCE [MRNA] OF 375-817.
TISSUE=Skin;
DOI=10.1111/1523-1747.ep12611394; PubMed=1351505 [NCBI, ExPASy, EBI, Israel, Japan]
Schroeder W.,
Thacher S.,
Stewart-Galetka S.,
Annarella M.,
Chema D.,
Sicliano M.,
Davies P.,
Tang H.Y.,
Sowa B.,
Duvic M.;
"Type I keratinocyte transglutaminase: expression in human skin and psoriasis.";
J. Invest. Dermatol. 99:27-34(1992).
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[14]
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VARIANTS LI1 TYR-42 AND GLN-323.
DOI=10.1126/science.7824952; PubMed=7824952 [NCBI, ExPASy, EBI, Israel, Japan]
Huber M.,
Rettler I.,
Bernasconi K.,
Frenk E.,
Lavrijsen S.P.M.,
Ponec M.,
Bon A.,
Lautenschlager S.,
Schorderet D.F.,
Hohl D.;
"Mutations of keratinocyte transglutaminase in lamellar ichthyosis.";
Science 267:525-528(1995).
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[15]
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VARIANTS LI1 HIS-142 AND HIS-143.
DOI=10.1038/ng0395-279; PubMed=7773290 [NCBI, ExPASy, EBI, Israel, Japan]
Russell L.J.,
Digiovanna J.J.,
Rogers G.R.,
Steinert P.M.,
Hashem N.,
Compton J.G.,
Bale S.J.;
"Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.";
Nat. Genet. 9:279-283(1995).
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[16]
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VARIANTS LI1/NCIE HIS-142; CYS-143; SER-218; LEU-379 AND LEU-396.
PubMed=9326318 [NCBI, ExPASy, EBI, Israel, Japan]
Laiho E.,
Ignatius J.,
Mikkola H.,
Yee V.C.,
Teller D.C.,
Niemi K.-M.,
Saarialho-Kere U.,
Kere J.,
Palotie A.;
"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.";
Am. J. Hum. Genet. 61:529-538(1997).
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[17]
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VARIANT NCIE HIS-389.
DOI=10.1046/j.1365-2133.2001.04037.x; PubMed=11251583 [NCBI, ExPASy, EBI, Israel, Japan]
Akiyama M.,
Takizawa Y.,
Kokaji T.,
Shimizu H.;
"Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.";
Br. J. Dermatol. 144:401-407(2001).
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[18]
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VARIANTS LI1 VAL-102; THR-289 AND TRP-307.
DOI=10.1046/j.0022-202x.2001.01429.x; PubMed=11511296 [NCBI, ExPASy, EBI, Israel, Japan]
Yang J.M.,
Ahn K.S.,
Cho M.O.,
Yoneda K.,
Lee C.H.,
Lee J.H.,
Lee E.S.,
Candi E.,
Melino G.,
Ahvazi B.,
Steinert P.M.;
"Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.";
J. Invest. Dermatol. 117:214-218(2001).
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