[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2; 3; 4 AND 6).
DOI=10.1073/pnas.84.16.5680; PubMed=3039501 [NCBI, ExPASy, EBI, Israel, Japan]
Indik Z.,
Yeh H.,
Ornstein-Goldstein N.,
Sheppard P.,
Anderson N.,
Rosenbloom J.C.,
Peltonen L.,
Rosenbloom J.;
"Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.";
Proc. Natl. Acad. Sci. U.S.A. 84:5680-5684(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Skin fibroblast;
DOI=10.1111/1523-1747.ep12476591; PubMed=3171221 [NCBI, ExPASy, EBI, Israel, Japan]
Fazio M.J.,
Olsen D.R.,
Kauh E.A.,
Baldwin C.T.,
Indik Z.,
Ornstein-Goldstein N.,
Yeh H.,
Rosenbloom J.,
Uitto J.;
"Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides.";
J. Invest. Dermatol. 91:458-464(1988).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 11).
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 MRNA] (ISOFORMS 5 AND 7), AND VARIANT GLY-422.
TISSUE=Fetal kidney;
DOI=10.1186/1471-2164-8-399; PubMed=17974005 [NCBI, ExPASy, EBI, Israel, Japan]
Bechtel S.,
Rosenfelder H.,
Duda A.,
Schmidt C.P.,
Ernst U.,
Wellenreuther R.,
Mehrle A.,
Schuster C.,
Bahr A.,
Blocker H.,
Heubner D.,
Hoerlein A.,
Michel G.,
Wedler H.,
Kohrer K.,
Ottenwalder B.,
Poustka A.,
Wiemann S.,
Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLY-422.
DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W.,
Fulton R.S.,
Fulton L.A.,
Graves T.A.,
Pepin K.H.,
Wagner-McPherson C.,
Layman D.,
Maas J.,
Jaeger S.,
Walker R.,
Wylie K.,
Sekhon M.,
Becker M.C.,
O'Laughlin M.D.,
Schaller M.E.,
Fewell G.A.,
Delehaunty K.D.,
Miner T.L.,
Nash W.E., ![]()
Cordes M.,
Du H.,
Sun H.,
Edwards J.,
Bradshaw-Cordum H.,
Ali J.,
Andrews S.,
Isak A.,
Vanbrunt A.,
Nguyen C.,
Du F.,
Lamar B.,
Courtney L.,
Kalicki J.,
Ozersky P.,
Bielicki L.,
Scott K.,
Holmes A.,
Harkins R.,
Harris A.,
Strong C.M.,
Hou S.,
Tomlinson C.,
Dauphin-Kohlberg S.,
Kozlowicz-Reilly A.,
Leonard S.,
Rohlfing T.,
Rock S.M.,
Tin-Wollam A.-M.,
Abbott A.,
Minx P.,
Maupin R.,
Strowmatt C.,
Latreille P.,
Miller N.,
Johnson D.,
Murray J.,
Woessner J.P.,
Wendl M.C.,
Yang S.-P.,
Schultz B.R.,
Wallis J.W.,
Spieth J.,
Bieri T.A.,
Nelson J.O.,
Berkowicz N.,
Wohldmann P.E.,
Cook L.L.,
Hickenbotham M.T.,
Eldred J.,
Williams D.,
Bedell J.A.,
Mardis E.R.,
Clifton S.W.,
Chissoe S.L.,
Marra M.A.,
Raymond C.,
Haugen E.,
Gillett W.,
Zhou Y.,
James R.,
Phelps K.,
Iadanoto S.,
Bubb K.,
Simms E.,
Levy R.,
Clendenning J.,
Kaul R.,
Kent W.J.,
Furey T.S.,
Baertsch R.A.,
Brent M.R.,
Keibler E.,
Flicek P.,
Bork P.,
Suyama M.,
Bailey J.A.,
Portnoy M.E.,
Torrents D.,
Chinwalla A.T.,
Gish W.R.,
Eddy S.R.,
McPherson J.D.,
Olson M.V.,
Eichler E.E.,
Green E.D.,
Waterston R.H.,
Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8), AND VARIANT ARG-610.
TISSUE=Eye;
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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NUCLEOTIDE SEQUENCE OF 1-27.
PubMed=2722804 [NCBI, ExPASy, EBI, Israel, Japan]
Bashir M.M.,
Indik Z.,
Yeh H.,
Ornstein-Goldstein N.,
Rosenbloom J.C.,
Abrams W.,
Fazio M.,
Uitto J.,
Rosenbloom J.;
"Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region.";
J. Biol. Chem. 264:8887-8891(1989).
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[8]
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NUCLEOTIDE SEQUENCE OF 1-27.
Bressan G.M.;
Submitted (JUN-1989) to the EMBL/GenBank/DDBJ databases.
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[9]
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SEQUENCE REVISION.
Bressan G.M.;
Submitted (OCT-1991) to the EMBL/GenBank/DDBJ databases.
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[10]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-657 (ISOFORMS 9 AND 10), AND VARIANT ARG-610.
DOI=10.1093/hmg/6.7.1021; PubMed=9215670 [NCBI, ExPASy, EBI, Israel, Japan]
Li D.Y.,
Toland A.E.,
Boak B.B.,
Atkinson D.L.,
Ensing G.J.,
Morris C.A.,
Keating M.T.;
"Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.";
Hum. Mol. Genet. 6:1021-1028(1997).
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[11]
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NUCLEOTIDE SEQUENCE [MRNA] OF 164-724 (ISOFORM 2).
TISSUE=Placenta;
PubMed=2831431 [NCBI, ExPASy, EBI, Israel, Japan]
Fazio M.J.,
Olsen D.R.,
Kuivaniemi H.,
Chu M.L.,
Davidson J.M.,
Rosenbloom J.,
Uitto J.;
"Isolation and characterization of human elastin cDNAs, and age-associated variation in elastin gene expression in cultured skin fibroblasts.";
Lab. Invest. 58:270-277(1988).
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[12]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 500-786, AND TISSUE SPECIFICITY.
DOI=10.1006/geno.1996.0469; PubMed=8812460 [NCBI, ExPASy, EBI, Israel, Japan]
Osborne L.R.,
Martindale D.W.,
Scherer S.W.,
Shi X.-M.,
Huizenga J.,
Heng H.H.Q.,
Costa T.,
Pober B.,
Lew L.,
Brinkman J.,
Rommens J.,
Koop B.F.,
Tsui L.-C.;
"Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.";
Genomics 36:328-336(1996).
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[13]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 659-786.
TISSUE=Hippocampus, and Placenta;
DOI=10.1016/S0092-8674(00)80077-X; PubMed=8689688 [NCBI, ExPASy, EBI, Israel, Japan]
Frangiskakis J.M.,
Ewart A.K.,
Morris C.A.,
Mervis C.B.,
Bertrand J.,
Robinson B.F.,
Klein B.P.,
Ensing G.J.,
Everett L.A.,
Green E.D.,
Proeschel C.,
Gutowski N.J.,
Noble M.,
Atkinson D.L.,
Odelberg S.J.,
Keating M.T.;
"LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.";
Cell 86:59-69(1996).
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[14]
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INVOLVEMENT IN CUTIS LAXA.
DOI=10.1074/jbc.274.2.981; PubMed=9873040 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang M.-C.,
He L.,
Giro M.,
Yong S.L.,
Tiller G.E.,
Davidson J.M.;
"Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).";
J. Biol. Chem. 274:981-986(1999).
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[15]
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INVOLVEMENT IN SVAS.
DOI=10.1007/s004390050028; PubMed=10942104 [NCBI, ExPASy, EBI, Israel, Japan]
Urban Z.,
Michels V.V.,
Thibodeau S.N.,
Davis E.C.,
Bonnefont J.-P.,
Munnich A.,
Eyskens B.,
Gewillig M.,
Devriendt K.,
Boyd C.D.;
"Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.";
Hum. Genet. 106:577-588(2000).
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[16]
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HYDROXYLATION AT PRO-65; PRO-67; PRO-88; PRO-116; PRO-156; PRO-177; PRO-190; PRO-286; PRO-290; PRO-415; PRO-427; PRO-465; PRO-467; PRO-481; PRO-522; PRO-580; PRO-607; PRO-646; PRO-677; PRO-769 AND PRO-772, AND MASS SPECTROMETRY.
DOI=10.1016/j.chroma.2005.06.034; PubMed=16078697 [NCBI, ExPASy, EBI, Israel, Japan]
Schmelzer C.E.H.,
Getie M.,
Neubert R.H.H.;
"Mass spectrometric characterization of human skin elastin peptides produced by proteolytic digestion with pepsin and thermitase.";
J. Chromatogr. A 1083:120-126(2005).
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[17]
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HYDROXYLATION AT PRO-34; PRO-167; PRO-170; PRO-190; PRO-283; PRO-286; PRO-327; PRO-342; PRO-347; PRO-352; PRO-355; PRO-360; PRO-421; PRO-427; PRO-550; PRO-580; PRO-589; PRO-598 AND PRO-677, AND MASS SPECTROMETRY.
DOI=10.1002/prot.20643; PubMed=16161116 [NCBI, ExPASy, EBI, Israel, Japan]
Getie M.,
Schmelzer C.E.H.,
Neubert R.H.H.;
"Characterization of peptides resulting from digestion of human skin elastin with elastase.";
Proteins 61:649-657(2005).
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