[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANTS PRO-725 AND ALA-847.
PubMed=3475693 [NCBI, ExPASy, EBI, Israel, Japan]
Kimura S.,
Kotani T.,
McBride O.W.,
Umeki K.,
Hirai K.,
Nakayama T.,
Ohtaki S.;
"Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs.";
Proc. Natl. Acad. Sci. U.S.A. 84:5555-5559(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS PRO-725 AND ALA-847.
TISSUE=Thyroid;
DOI=10.1093/nar/15.16.6735; PubMed=3453124 [NCBI, ExPASy, EBI, Israel, Japan]
Libert F.,
Ruel J.,
Ludgate M.,
Swillens S.,
Alexander N.,
Vassart G.,
Dinsart C.;
"Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA.";
Nucleic Acids Res. 15:6735-6735(1987).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
DOI=10.1021/bi00436a054; PubMed=2548579 [NCBI, ExPASy, EBI, Israel, Japan]
Kimura S.,
Hong Y.S.,
Kotani T.,
Ohtaki S.,
Kikkawa F.;
"Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene.";
Biochemistry 28:4481-4489(1989).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Thyroid;
DOI=10.1093/nar/18.3.670; PubMed=2308857 [NCBI, ExPASy, EBI, Israel, Japan]
Barnett P.S.,
Banga J.P.,
Watkins J.,
Huang G.C.,
Gluckman D.R.B.,
Page M.J.,
McGregor A.M.;
"Nucleotide sequence of the alternatively spliced human thyroid peroxidase cDNA, TPO-2.";
Nucleic Acids Res. 18:670-670(1990).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT SER-257.
TISSUE=Thyroid;
Rapoport B.;
Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), AND VARIANTS SER-257; PRO-725 AND ALA-847.
TISSUE=Thyroid;
Hennen G.P.,
Igout A.,
Melen L.B.;
"Homo sapiens thyroid peroxidase (TPO) variant mRNA, alternatively spliced sequence.";
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
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[7]
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PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5; 6; 2-3 AND 2-4), AND VARIANTS PRO-725 AND ALA-847.
TISSUE=Thyroid;
DOI=10.1074/jbc.M209513200; PubMed=12454013 [NCBI, ExPASy, EBI, Israel, Japan]
Ferrand M.,
Le Fourn V.,
Franc J.-L.;
"Increasing diversity of human thyroperoxidase generated by alternative splicing. Characterization by molecular cloning of new transcripts with single- and multispliced mRNAs.";
J. Biol. Chem. 278:3793-3800(2003).
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[8]
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NUCLEOTIDE SEQUENCE [MRNA] OF 217-496.
PubMed=3654979 [NCBI, ExPASy, EBI, Israel, Japan]
Seto P.,
Hirayu H.,
Magnusson R.P.,
Gestautas J.,
Portmann L.,
Degroot L.J.,
Rapoport B.;
"Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase.";
J. Clin. Invest. 80:1205-1208(1987).
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[9]
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NUCLEOTIDE SEQUENCE [MRNA] OF 670-933 (ISOFORM 3), AND ALTERNATIVE SPLICING IN GRAVES' DISEASE.
TISSUE=Thyroid;
DOI=10.1016/0006-291X(90)92152-P; PubMed=2383265 [NCBI, ExPASy, EBI, Israel, Japan]
Zanelli E.,
Henry M.,
Charvet B.,
Malthiery Y.;
"Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease.";
Biochem. Biophys. Res. Commun. 170:735-741(1990).
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[10]
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INTERACTION WITH DUOX1; DUOX2 AND CYBA.
DOI=10.1074/jbc.M407709200; PubMed=15561711 [NCBI, ExPASy, EBI, Israel, Japan]
Wang D.,
De Deken X.,
Milenkovic M.,
Song Y.,
Pirson I.,
Dumont J.E.,
Miot F.;
"Identification of a novel partner of duox: EFP1, a thioredoxin-related protein.";
J. Biol. Chem. 280:3096-3103(2005).
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[11]
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VARIANTS CHDH2A ASP-453; SER-590 AND LYS-799, AND VARIANTS SER-257; SER-373; THR-398 AND PRO-725.
PubMed=7550241 [NCBI, ExPASy, EBI, Israel, Japan]
Bikker H.,
Vulsma T.,
Baas F.,
de Vijlder J.J.M.;
"Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.";
Hum. Mutat. 6:9-16(1995).
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[12]
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VARIANT CHDH2A PHE-447.
DOI=10.1210/jc.82.2.649; PubMed=9024270 [NCBI, ExPASy, EBI, Israel, Japan]
Bikker H.,
Baas F.,
De Vijlder J.J.M.;
"Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.";
J. Clin. Endocrinol. Metab. 82:649-653(1997).
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[13]
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VARIANT CHDH2A GLU-660.
PubMed=10468986 [NCBI, ExPASy, EBI, Israel, Japan]
Santos C.L.S.,
Bikker H.,
Rego K.G.M.,
Nascimento A.C.,
Tambascia M.,
De Vijlder J.J.M.,
Medeiros-Neto G.;
"A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.";
Clin. Endocrinol. (Oxf.) 51:165-172(1999).
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[14]
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VARIANTS CHDH2A GLN-648 AND LYS-799.
DOI=10.1210/jc.84.3.1061; PubMed=10084596 [NCBI, ExPASy, EBI, Israel, Japan]
Pannain S.,
Weiss R.E.,
Jackson C.E.,
Dian D.,
Beck J.C.,
Sheffield V.C.,
Cox N.,
Refetoff S.;
"Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.";
J. Clin. Endocrinol. Metab. 84:1061-1071(1999).
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[15]
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VARIANT CHDH2A ASN-240, AND CHARACTERIZATION OF VARIANT CHDH2A ASN-240.
DOI=10.1677/joe.0.1600267; PubMed=9924196 [NCBI, ExPASy, EBI, Israel, Japan]
Kotani T.,
Umeki K.,
Yamamoto I.,
Maesaka H.,
Tachibana K.,
Ohtaki S.;
"A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.";
J. Endocrinol. 160:267-273(1999).
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[16]
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VARIANTS CHDH2A THR-326; PHE-447; ASP-453; CYS-527; TRP-693 AND LYS-799.
DOI=10.1210/jc.85.10.3708; PubMed=11061528 [NCBI, ExPASy, EBI, Israel, Japan]
Bakker B.,
Bikker H.,
Vulsma T.,
de Randamie J.S.E.,
Wiedijk B.M.,
De Vijlder J.J.M.;
"Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).";
J. Clin. Endocrinol. Metab. 85:3708-3712(2000).
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[17]
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VARIANTS CHDH2A PRO-458 AND HIS-491.
DOI=10.1530/eje.0.1450019; PubMed=11415848 [NCBI, ExPASy, EBI, Israel, Japan]
Ambrugger P.,
Stoeva I.,
Biebermann H.,
Torresani T.,
Leitner C.,
Grueters A.;
"Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.";
Eur. J. Endocrinol. 145:19-24(2001).
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[18]
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VARIANTS CHDH2A TRP-665 AND ARG-771, AND CHARACTERIZATION OF VARIANTS CHDH2A TRP-665 AND ARG-771.
DOI=10.1530/eje.0.1460491; PubMed=11916616 [NCBI, ExPASy, EBI, Israel, Japan]
Umeki K.,
Kotani T.,
Kawano J.,
Suganuma T.,
Yamamoto I.,
Aratake Y.,
Furujo M.,
Ichiba Y.;
"Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.";
Eur. J. Endocrinol. 146:491-498(2002).
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[19]
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VARIANT CHDH2A PRO-53.
DOI=10.1210/jc.2002-020153; PubMed=12213873 [NCBI, ExPASy, EBI, Israel, Japan]
Niu D.-M.,
Hwang B.,
Chu Y.-K.,
Liao C.-J.,
Wang P.-L.,
Lin C.-Y.;
"High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.";
J. Clin. Endocrinol. Metab. 87:4208-4212(2002).
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[20]
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VARIANTS CHDH2A SER-493 AND TYR-796.
DOI=10.1677/joe.0.1720627; PubMed=11874711 [NCBI, ExPASy, EBI, Israel, Japan]
Wu J.-Y.,
Shu S.-G.,
Yang C.-F.,
Lee C.-C.,
Tsai F.-J.;
"Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.";
J. Endocrinol. 172:627-635(2002).
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[21]
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VARIANT CHDH2A ILE-839.
DOI=10.1089/105072502320908277; PubMed=12490071 [NCBI, ExPASy, EBI, Israel, Japan]
Calaciura F.,
Miscio G.,
Coco A.,
Leonardi D.,
Cisternino C.,
Regalbuto C.,
Bozzali M.,
Maiorana R.,
Ranieri A.,
Carta A.,
Buscema M.,
Trischitta V.,
Sava L.,
Tassi V.;
"Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.";
Thyroid 12:945-951(2002).
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[22]
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VARIANTS CHDH2A CYS-533 AND ASP-574-575-LEU DEL, AND CHARACTERIZATION OF VARIANTS CHDH2A CYS-533 AND ASP-574-575-LEU DEL.
DOI=10.1046/j.1365-2265.2003.01823.x; PubMed=12864797 [NCBI, ExPASy, EBI, Israel, Japan]
Kotani T.,
Umeki K.,
Kawano J.,
Suganuma T.,
Hishinuma A.,
Ieiri T.,
Harada S.;
"Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.";
Clin. Endocrinol. (Oxf.) 59:198-206(2003).
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[23]
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VARIANTS CHDH2A THR-307; MET-433; LEU-499 AND ARG-808.
DOI=10.1002/humu.9175; PubMed=12938097 [NCBI, ExPASy, EBI, Israel, Japan]
Rivolta C.M.,
Esperante S.A.,
Gruneiro-Papendieck L.,
Chiesa A.,
Moya C.M.,
Domene S.,
Varela V.,
Targovnik H.M.;
"Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.";
Hum. Mutat. 22:259-259(2003).
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[24]
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VARIANT CHDH2A TRP-693.
DOI=10.1210/jc.2002-021377; PubMed=12843174 [NCBI, ExPASy, EBI, Israel, Japan]
Fugazzola L.,
Cerutti N.,
Mannavola D.,
Vannucchi G.,
Fallini C.,
Persani L.,
Beck-Peccoz P.;
"Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.";
J. Clin. Endocrinol. Metab. 88:3264-3271(2003).
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[25]
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VARIANT CHDH2A LYS-378.
DOI=10.1507/endocrj.52.643; PubMed=16284446 [NCBI, ExPASy, EBI, Israel, Japan]
Tajima T.,
Tsubaki J.,
Fujieda K.;
"Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.";
Endocr. J. 52:643-645(2005).
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[26]
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VARIANT CHDH2A ASP-453.
DOI=10.1210/jc.2006-0142; PubMed=16684826 [NCBI, ExPASy, EBI, Israel, Japan]
Pfarr N.,
Borck G.,
Turk A.,
Napiontek U.,
Keilmann A.,
Mueller-Forell W.,
Kopp P.,
Pohlenz J.;
"Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.";
J. Clin. Endocrinol. Metab. 91:2678-2681(2006).
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