A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang

References

• Delvecchio M, Vigone MC, Wasniewska M, et al. Final height in Italian patients with congenital hypothyroidism detected by neonatal screening: a 20-year observational study. Ital J Pediatr. 2015;41(1):82. doi:10.1186/s13052-015-0190-y
   PubMedGoogle Scholar
• Cherella CE, Wassner AJ. Congenital hypothyroidism: insights into pathogenesis and treatment. Int J Pediatr Endocrinol. 2017;2017(1):11. doi:10.1186/s13633-017-0051-0
   PubMedGoogle Scholar
• Gomes-Lima C, Wartofsky L, Burman K. Can reverse T3 assay be employed to guide T4 vs. T4/T3 therapy in hypothyroidism? Front Endocrinol. 2019;10:856. doi:10.3389/fendo.2019.00856
   PubMed Web of Science ®Google Scholar
• Nagasaki K, Asami T, Ogawa Y, Kikuchi T, Uchiyama MA. A study of the etiology of congenital hypothyroidism in the Niigata prefecture of Japan in patients born between 1989 and 2005 and evaluated at ages 5-19. Thyroid. 2011;21(4):361. doi:10.1089/thy.2010.0005
   PubMed Web of Science ®Google Scholar
• Teissier R, Guillot L, Carré A, et al. Multiplex ligation-dependent probe amplification improves the detection rate of NKX2. 1 mutations in patients affected by brain-lung-thyroid syndrome. Horm Res Paediatr. 2012;77(3):146–151. doi:10.1159/000337214
   PubMed Web of Science ®Google Scholar
• Carvalho A, Hermanns P, Rodrigues A-L, et al. A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract. Thyroid. 2013;23(9):1074–1078. doi:10.1089/thy.2012.0649
   PubMed Web of Science ®Google Scholar
• De Marco G, Agretti P, Montanelli L, et al. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J Clin Endocrinol Metab. 2011;96(8):E1335–E1339. doi:10.1210/jc.2010-2467
   PubMed Web of Science ®Google Scholar
• Hulur I, Hermanns P, Nestoris C, et al. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab. 2011;96(5):E841–E845. doi:10.1210/jc.2010-2321
   PubMed Web of Science ®Google Scholar
• Banghova K, Al Taji E, Cinek O, et al. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. Eur J Pediatr. 2008;167(7):777. doi:10.1007/s00431-007-0588-7
   PubMed Web of Science ®Google Scholar
• Szinnai G. Clinical genetics of congenital hypothyroidism. Endocr Dev. 2014;26:60–78.
   PubMedGoogle Scholar
• Cui Y, Hunag J, Wang SL, et al. Analysis of a survey results on endemic cretinism in Southern Xinjiang. Chin J Endemiol. 2016;2016(8):593–596.
   Google Scholar
• McCarrison R. Observations on endemic cretinism in the Chitral and Gilgit valleys. Ind Med Gaz. 1908;43(12):441–449.
   PubMedGoogle Scholar
• Halpern JP, Boyages SC, Maberly GF, Collins JK, Eastman CJ, Morris JG. The neurology of endemic cretinism. A study of two endemias. Brain. 1991;114(2):825–841. doi:10.1093/brain/114.2.825
   PubMedGoogle Scholar
• Gabriel S, Ziaugra L, Tabbaa D. SNP genotyping using the Sequenom MassARRAY iPLEX platform. Curr Protoc Hum Genet. 2009;60(1). doi:10.1002/0471142905.hg0212s60
   Google Scholar
• Thomas RK, Baker AC, Debiasi RM, et al. High-throughput oncogene mutation profiling in human cancer. Nat Genet. 2007;39(3):347–351. doi:10.1038/ng1975
   PubMed Web of Science ®Google Scholar
• Bland JM, Altman DG. Statistics notes. The odds ratio. BMJ. 2000;320(7247):1468. doi:10.1136/bmj.320.7247.1468
   PubMed Web of Science ®Google Scholar
• Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–575. doi:10.1086/519795
   PubMed Web of Science ®Google Scholar
• Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 2005;15(2):97–98. doi:10.1038/sj.cr.7290272
   PubMed Web of Science ®Google Scholar
• Barrett JC. Haploview: visualization and analysis of SNP genotype data. Cold Spring Harb Protoc. 2009;2009(10):db ip71. doi:10.1101/pdb.ip71
   Google Scholar
• Khatami M, Heidari MM, Tabesh F, Ordooei M, Salehifar Z. Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. J Pediatr Endocrinol Metab. 2017;30(1):e2653. doi:10.1515/jpem-2017-0084
   Google Scholar
• Iwadate M, Takizawa Y, Kimura S. Abstract 357: NKX2-1 regulates SMAD and non-SMAD pathways in thyroid stem cells. Cancer Res. 2017;77(13 Supplement):357. doi:10.1158/1538-7445.AM2017-357
   Google Scholar
• Monica D, Viviana C, Annamaria R, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab. 2006;91(4):1428–1433. doi:10.1210/jc.2005-1350
   PubMed Web of Science ®Google Scholar
• Zhenling W, Li Z, Rong Z, et al. Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis. PLoS One. 2013;8(8):e70979. doi:10.1371/journal.pone.0070979
   PubMed Web of Science ®Google Scholar
• Ketharnathan S, Koshy T, Sethuratnam R, Paul S, Venkatesan V. Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population. Genet Test Mol Biomarkers. 2015;19(10):579–583. doi:10.1089/gtmb.2015.0112
   PubMed Web of Science ®Google Scholar
• Tom M, Robin R. An extensive network of coupling among gene expression machines. Nature. 2002;416(6880):499–506. doi:10.1038/416499a
   PubMed Web of Science ®Google Scholar
• Chen W, Feng PM, Lin H, Chou KC. iRSpot-PseDNC: identify recombination spots with pseudo dinucleotide composition. Nucleic Acids Res. 2013;41(6):e68. doi:10.1093/nar/gks1450
   PubMed Web of Science ®Google Scholar
• Guil S, Soler M, Portela A, et al. Intronic RNAs mediate EZH2 regulation of epigenetic targets. Nat Struct Mol Biol. 2012;19(7):664. doi:10.1038/nsmb.2315
   PubMed Web of Science ®Google Scholar
• Eddo K, Alon M, Gil A. Different levels of alternative splicing among eukaryotes. Nucleic Acids Res. 2007;35(1):125–131. doi:10.1093/nar/gkl924
   PubMed Web of Science ®Google Scholar
• Meenakshi R, Namshin K, Yi X, Christopher L. The effect of intron length on exon creation ratios during the evolution of mammalian genomes. Rna-a Pub Rna Soc. 2008;14(11):2261. doi:10.1261/rna.1024908
   PubMed Web of Science ®Google Scholar
• Fawcett JA, Rouzé P, Peer YVD. Higher intron loss rate in Arabidopsis thaliana than A. lyrata is consistent with stronger selection for a smaller genome. Mol Biol Evol. 2012;29(2):849–859. doi:10.1093/molbev/msr254
   PubMed Web of Science ®Google Scholar
• Roy S, Hartl D. Very little intron loss/gain in plasmodium: intron loss/gain mutation rates and intron number. Genome Res. 2006;16(6):750–756. doi:10.1101/gr.4845406
   PubMed Web of Science ®Google Scholar