Associated Papers
Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.
Brea-Iglesias J et al.
Molecular Oncology, 2025
40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5
Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review.
Michel K et al.
Frontiers in Medicine, 2025
40395234 (PubMed )
Supplement: Data_Sheet_1.xlsx › Basal_characteristics
Case Report: Hydroxychloroquine in an infant with NKX2-1-associated interstitial lung disease.
Qing D et al.
Frontiers in Pediatrics, 2025
Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.
Soreze YD et al.
Plos One, 2025
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S et al.
Neurogenetics, 2022
Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.
Attarian SJ et al.
Pediatric Research, 2018
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
Nattes E et al.
Respiratory Medicine, 2017
Benign Hereditary Chorea: An Update.
Peall KJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Veneziano L et al.
Cerebellum (london, England), 2014
A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.
Young LR et al.
Chest, 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
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".
Guillot L et al.
Human Mutation, 2010
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