Publications

Heinen CA et al. Mutations in TBL1X are associated with central hypothyroidism. J Clin Endocrinol Metab. 2016;101(12):4564-4573. PMID: 27603907.

García M et al. Central hypothyroidism and novel clinical phenotypes in hemizygous truncation of TBL1X.J Endocr Soc. 2018;3(1):119-128. PMID: 30591955.

Lauffer P et al. Further delineation of central congenital hypothyroidism due to variants in TBL1X and IRS4. Thyroid. 2023;33(7):880-884. PMID: 36860195.

Lauffer P et al. Diagnosis and Management of Central Congenital Hypothyroidism. Front Endocrinol. 2021;12:686317. PMID: 34566885.

Hu Y et al. Disturbed function of TBL1X has a differential effect on T3-regulated gene expression in human models.Eur Thyroid J. 2024;13(5):ETJ-24-0162. PMID: 39316725.

Yoon HG et al. Purification and functional characterization of the human N-CoR complex: roles of HDAC3, TBL1 and TBLR1. EMBO J. 2003;22(6):1336-1346. PMID: 12628926.

Astapova I et al. The nuclear receptor corepressor controls thyroid hormone sensitivity and HPT axis set-point. Mol Endocrinol. 2011;25(2):212-224. PMID: 22801336.

Özhan B et al. Congenital central hypothyroidism caused by a novel thyroid-stimulating hormone-beta subunit gene mutation in two siblings. J Clin Res Pediatr Endocrinol. 2017;9(3):119-128. PMID: 28515030.