Montanelli L, Tonacchera M. Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX 8 and TTF1 mutations. Mol Cellul Endocrin. 2010;322:64–71.
Article
CAS
Google Scholar
Krude H, Schutz B, Biebermann H, Von Moers A, Schnabel D, Neitzel H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002;109:475–80.
Article
CAS
PubMed Central
PubMed
Google Scholar
Willemsen MA, Breedveld GJ, Wouda S, Otten BJ, Yntema JL, Lammens M, et al. Brain-Thyroid-Lung syndrome: a patient with severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr. 2005;164:28–30.
Article
PubMed
Google Scholar
Patel NJ, Jankovic J. NKX2-1-Related Disorders In GeneReviews®. Edited by Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K. Seattle (WA): University of Washington, Seattle. 2014; 1993–2015.
Breedveld GJ, van Dongen JWF, Danesino C, Guala A, Percy AK, Dure LS, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002;11(8):971–9.
Article
CAS
PubMed
Google Scholar
Gruters A, Krude H, Biebermann H. Molecular genetic defects in congenital hypothyroidism. Eur J Endocrinol. 2004;151:U39–44.
Article
PubMed
Google Scholar
Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, et al. Jerky Dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord. 2009;24:702–9.
Article
PubMed
Google Scholar
Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004;145:190–3.
Article
CAS
PubMed
Google Scholar
Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, et al. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab. 2009;94(1):197–203.
Article
CAS
PubMed
Google Scholar
Do Carmo Costa M, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, et al. Nonsense mutation in TTF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 2005;6:209–15.
Article
Google Scholar
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, et al. 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. J Neurosurg Psychiatry. 2012;83:956–62.
Article
Google Scholar
Moya CM, Perez De Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, et al. 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. J Clin Endocrinol Metab. 2006;91:1832–41.
Article
CAS
PubMed
Google Scholar
Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CSY. NKX2.1 mutations in brain-lung-thyroid syndrome: a case series of four patients. J Pediatr Endocrinol Metab 2013; doi:10.1515/jpem-2013-0109.
Guazzi S, Price M, De Felice M, Damante G, Mattei MG, Di Lauro R. Thyroid nuclear factor (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J. 1990;9:3631–9.
CAS
PubMed Central
PubMed
Google Scholar
Kusakabe T, Kawaguchi A, Hoshi N, Kawaguchi R, Hoshi S, Kimura S. Thyroid-specific enhancer-binding protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differentiated thyroid. Mol Endocrinol. 2006;20(8):1796–809.
Article
CAS
PubMed Central
PubMed
Google Scholar
Cao Y, Vo T, Millien G, Tagne JB, Kotton D, Mason RJ, et al. Epigenetic mechanisms modulate thyroid transcription factor 1-mediated transcription of the surfactant protein B gene. J Biol Chem. 2010;285(3):2152–64.
Article
CAS
PubMed Central
PubMed
Google Scholar
Guillot L, Carré A, Szinnai G, Castanet M, Tron E, Jaubert F, et al. NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”. Hum Mutat. 2010;31(2):E1146–62.
Article
PubMed
Google Scholar
Inzelberg R, Weinberger M, Gak E. Benign hereditary chorea: An update. Parkinsonism Relat Disord. 2011;17:301–7.
Article
PubMed
Google Scholar
Thorwarth A, Schnittert-Hubener S, Schrumpf P, Muller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schulke M, Ebert G, Steininger A, Bonnemann C, Brockmann K, Christen H-J, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hubner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers H-H, Gruters A, Ullmann R, Krude H. Comprehensive genotyping and clinical characterisation reveal 27 novel Nkx2-1 mutations and expand the phenotypic spectrum J Med Genet Published Online First, April 2014. doi:10.1136/jmedgenet-2013-102248.
Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin SM, Vinette KMB, et al. Choreoathetosis, Congenital Hypothyroidism and Neonatal Respiratory Distress Syndrome With Intact NKX2-1. Am J Med Genet Part A. 2012;58A:3168–73.
Article
Google Scholar
Magno L, Catanzariti V, Nitsch R, Krude H, Naumann T. Ongoing expression of NKX2.1 in the postnatal mouse forebrain: potential for understanding NKX2.1 haploinsufficiency in humans? Brain Res. 2009;1304:164–86.
Article
CAS
PubMed
Google Scholar
Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin J-P, Morris HR, Jungbluth H, Kurian MA. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol.2013, Oct 31. doi:10.1111/dmcn.12323.
Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D. Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. J Neurol Sciences. 2008;264:56–62.
Article
CAS
Google Scholar
Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, et al. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest. 2013;144(3):794–804.
Article
CAS
PubMed Central
PubMed
Google Scholar
Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid. 2008;18(9):1005–9.
Article
CAS
PubMed
Google Scholar
Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S. A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. J Neurol Sci. 2012;313:189–92.
Article
CAS
PubMed
Google Scholar
Salerno T, Peca D, Meschini L, Schivino A, Petreschi F, Occasi F, et al. Respiratory Insufficiency in a Newborn With Congenital Hypothyroidism Due To a New Mutation of TTF-1/NKX2.1 Gene. Pediatr Pulmonol. 2014;49:E42–4.
Article
PubMed
Google Scholar