[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=7508385 [NCBI, ExPASy, EBI, Israel, Japan]
Kondo K.-H.,
Kai M.-H.,
Setoguchi Y.,
Eggertsen G.,
Sjoeblom P.,
Setoguchi T.,
Okuda K.,
Bjoerkhem I.;
"Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta-reductase and substrate specificity of the expressed enzyme.";
Eur. J. Biochem. 219:357-363(1994).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION, AND TISSUE SPECIFICITY.
DOI=10.1016/S0167-4781(00)00278-5; PubMed=11342103 [NCBI, ExPASy, EBI, Israel, Japan]
Charbonneau A.,
The V.L.;
"Genomic organization of a human 5beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme.";
Biochim. Biophys. Acta 1517:228-235(2001).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Mammary gland;
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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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1126/science.1083423; PubMed=12690205 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.W.,
Cheung J.,
MacDonald J.R.,
Osborne L.R.,
Nakabayashi K.,
Herbrick J.-A.,
Carson A.R.,
Parker-Katiraee L.,
Skaug J.,
Khaja R.,
Zhang J.,
Hudek A.K.,
Li M.,
Haddad M.,
Duggan G.E.,
Fernandez B.A.,
Kanematsu E.,
Gentles S.,
Christopoulos C.C., ![]()
Choufani S.,
Kwasnicka D.,
Zheng X.H.,
Lai Z.,
Nusskern D.R.,
Zhang Q.,
Gu Z.,
Lu F.,
Zeesman S.,
Nowaczyk M.J.,
Teshima I.,
Chitayat D.,
Shuman C.,
Weksberg R.,
Zackai E.H.,
Grebe T.A.,
Cox S.R.,
Kirkpatrick S.J.,
Rahman N.,
Friedman J.M.,
Heng H.H.Q.,
Pelicci P.G.,
Lo-Coco F.,
Belloni E.,
Shaffer L.G.,
Pober B.,
Morton C.C.,
Gusella J.F.,
Bruns G.A.P.,
Korf B.R.,
Quade B.J.,
Ligon A.H.,
Ferguson H.,
Higgins A.W.,
Leach N.T.,
Herrick S.R.,
Lemyre E.,
Farra C.G.,
Kim H.-G.,
Summers A.M.,
Gripp K.W.,
Roberts W.,
Szatmari P.,
Winsor E.J.T.,
Grzeschik K.-H.,
Teebi A.,
Minassian B.A.,
Kere J.,
Armengol L.,
Pujana M.A.,
Estivill X.,
Wilson M.D.,
Koop B.F.,
Tosi S.,
Moore G.E.,
Boright A.P.,
Zlotorynski E.,
Kerem B.,
Kroisel P.M.,
Petek E.,
Oscier D.G.,
Mould S.J.,
Doehner H.,
Doehner K.,
Rommens J.M.,
Vincent J.B.,
Venter J.C.,
Li P.W.,
Mural R.J.,
Adams M.D.,
Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
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[5]
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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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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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[7]
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X-RAY CRYSTALLOGRAPHY (1.35 ANGSTROMS) IN COMPLEXES WITH NADP; TESTOSTRONE; PROGESTERONE AND CORTISONE, MUTAGENESIS OF TYR-58 AND GLU-120, ENZYME REGULATION, AND BIOPHYSICOCHEMICAL PROPERTIES.
DOI=10.1074/jbc.M801778200; PubMed=18407998 [NCBI, ExPASy, EBI, Israel, Japan]
Di Costanzo L.,
Drury J.E.,
Penning T.M.,
Christianson D.W.;
"Crystal structure of human liver delta(4)-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis.";
J. Biol. Chem. 283:16830-16839(2008).
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[8]
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VARIANTS CBAS2 PHE-106 AND LEU-198.
DOI=10.1136/gut.52.10.1494; PubMed=12970144 [NCBI, ExPASy, EBI, Israel, Japan]
Lemonde H.A.,
Custard E.J.,
Bouquet J.,
Duran M.,
Overmars H.,
Scambler P.J.,
Clayton P.T.;
"Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.";
Gut 52:1494-1499(2003).
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[9]
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VARIANTS CBAS2 ARG-133 AND CYS-261.
DOI=10.1016/j.jhep.2003.12.024; PubMed=15030995 [NCBI, ExPASy, EBI, Israel, Japan]
Gonzales E.,
Cresteil D.,
Baussan C.,
Dabadie A.,
Gerhardt M.F.,
Jacquemin E.;
"SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.";
J. Hepatol. 40:716-718(2004).
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