Human thyroid peroxidase
complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs.Kimura S., Kotani T., McBride O.W., Umeki K., Hirai K., Nakayama T., Ohtaki S.Proc. Natl. Acad. Sci. U.S.A. 84:5555-5559(1987)
Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA.Libert F., Ruel J., Ludgate M., Swillens S., Alexander N., Vassart G., Dinsart C.Nucleic Acids Res. 15:6735-6735(1987)
Structure of the human thyroid peroxidase gene
comparison and relationship to the human myeloperoxidase gene.Kimura S., Hong Y.S., Kotani T., Ohtaki S., Kikkawa F.Biochemistry 28:4481-4489(1989)
Nucleotide sequence of the alternatively spliced human thyroid peroxidase cDNA, TPO-2.Barnett P.S., Banga J.P., Watkins J., Huang G.C., Gluckman D.R.B., Page M.J., McGregor A.M.Nucleic Acids Res. 18:670-670(1990)
Rapoport B. Homo sapiens thyroid peroxidase (TPO)
variant mRNA, alternatively spliced sequence.Hennen G.P., Igout A., Melen L.B. Increasing diversity of human thyroperoxidase generated by alternative splicing. Characterization by molecular cloning of new transcripts with single- and multispliced mRNAs.Ferrand M., Le Fourn V., Franc J.-L.J. Biol. Chem. 278:3793-3800(2003)
Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase.Seto P., Hirayu H., Magnusson R.P., Gestautas J., Portmann L., Degroot L.J., Rapoport B.J. Clin. Invest. 80:1205-1208(1987)
Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease.Zanelli E., Henry M., Charvet B., Malthiery Y.Biochem. Biophys. Res. Commun. 170:735-741(1990)
Identification of a novel partner of duox
EFP1, a thioredoxin-related protein.Wang D., De Deken X., Milenkovic M., Song Y., Pirson I., Dumont J.E., Miot F.J. Biol. Chem. 280:3096-3103(2005)
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.Bikker H., Vulsma T., Baas F., de Vijlder J.J.M.Hum. Mutat. 6:9-16(1995)
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.Bikker H., Baas F., De Vijlder J.J.M.J. Clin. Endocrinol. Metab. 82:649-653(1997)
A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.Santos C.L.S., Bikker H., Rego K.G.M., Nascimento A.C., Tambascia M., De Vijlder J.J.M., Medeiros-Neto G.Clin. Endocrinol. (Oxf.)
51:165-172(1999)
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred
power and limits of homozygosity mapping.Pannain S., Weiss R.E., Jackson C.E., Dian D., Beck J.C., Sheffield V.C., Cox N., Refetoff S.J. Clin. Endocrinol. Metab. 84:1061-1071(1999)
A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.Kotani T., Umeki K., Yamamoto I., Maesaka H., Tachibana K., Ohtaki S.J. Endocrinol. 160:267-273(1999)
Two decades of screening for congenital hypothyroidism in The Netherlands
TPO gene mutations in total iodide organification defects (an update)
.Bakker B., Bikker H., Vulsma T., de Randamie J.S.E., Wiedijk B.M., De Vijlder J.J.M.J. Clin. Endocrinol. Metab. 85:3708-3712(2000)
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.Ambrugger P., Stoeva I., Biebermann H., Torresani T., Leitner C., Grueters A.Eur. J. Endocrinol. 145:19-24(2001)
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.Umeki K., Kotani T., Kawano J., Suganuma T., Yamamoto I., Aratake Y., Furujo M., Ichiba Y.Eur. J. Endocrinol. 146:491-498(2002)
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.Niu D.-M., Hwang B., Chu Y.-K., Liao C.-J., Wang P.-L., Lin C.-Y.J. Clin. Endocrinol. Metab. 87:4208-4212(2002)
Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect
identification of five novel mutations.Wu J.-Y., Shu S.-G., Yang C.-F., Lee C.-C., Tsai F.-J.J. Endocrinol. 172:627-635(2002)
Genetics of specific phenotypes of congenital hypothyroidism
a population-based approach.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.Thyroid 12:945-951(2002)
Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.Kotani T., Umeki K., Kawano J., Suganuma T., Hishinuma A., Ieiri T., Harada S.Clin. Endocrinol. (Oxf.)
59:198-206(2003)
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Moya C.M., Domene S., Varela V., Targovnik H.M.Hum. Mutat. 22:259-259(2003)
Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.Fugazzola L., Cerutti N., Mannavola D., Vannucchi G., Fallini C., Persani L., Beck-Peccoz P.J. Clin. Endocrinol. Metab. 88:3264-3271(2003)
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.Tajima T., Tsubaki J., Fujieda K.Endocr. J. 52:643-645(2005)
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.Pfarr N., Borck G., Turk A., Napiontek U., Keilmann A., Mueller-Forell W., Kopp P., Pohlenz J.J. Clin. Endocrinol. Metab. 91:2678-2681(2006)