Associated Papers
Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.
Wang H et al.
Pediatric Research, 2024
TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.
Moya CM et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
Nettore IC et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.
Ngan ES et al.
Journal of the National Cancer Institute, 2009
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.
Moya CM et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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