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Journal of the Neurological Sciences
Volume 264, Issue 1
, Pages 56-62
, 15 January 2008
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
References
- . Hereditary non progressive chorea of early onset. N Engl J Med. 1967;276:1220–1224
- Clinical and genetic heterogeneity in benign hereditary chorea. Neurology. 2002;59:579–584
- Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol. 2003;54:244–247
- Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002;11:971–979
- Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002;109:475–480
- Shimohata T, Hara K, Sanpei K, Nunomura JI, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y., in press. Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3–q23.3. Brain.
- . A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter. EMBO J. 1989;8:2537–2542
- . A unique combination of transcription factors controls differentiation of thyroid cells. Prog Nucleic Acid Res Mol Biol. 2000;66:307–356
- The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev. 1996;10:60–69
- . Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development. 1999;126:3359–3370
- . Aberrant trajectory of ascending dopaminergic pathway in mice lacking Nkx2.1. Exp Neurol. 2003;182:103–112
- . Patterning of the basal telencephalon and hypothalamus is essential for guidance of cortical projections. Development. 2002;129:761–773
- . Alteration of striatal neurons in benign hereditary chorea. Mov Disord. 2005;20:1353–1357
- . Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med. 1998;338:1317–1318
- . Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr. 2000;137:272–276
- Brain–Thyroid–Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr. 2005;164:28–30
- Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 2005;6:209–215
- Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002;109:469–473
- 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;91:1832–1841
- . A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes. 1993;7:235–239
- A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001;29:377–378Erratum in: Nat Genet 2002;30:123
- . Redundant domains contribute to the transcriptional activity of the thyroid transcription factor 1. J Biol Chem. 1995;270:26649–26656
- . Proc Natl Acad Sci U S A. 1980;77:3455–3459
- . Role for p300 in Pax 8 induction of thyroperoxidase gene expression. J Biol Chem. 2000;275:34100–34105
- . Nuclear localization domain of thyroid transcription factor-1 in respiratory epithelial cells. Biochem J. 1997;328:757–761
- . Critical residues of the homeodomain involved in contacting DNA bases also specify the nuclear accumulation of thyroid transcription factor-1. Eur J Biochem. 1999;265:491–497
- . A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology. 2005;64:1952–1954
- . Genetic factors are major determinants of phenotypic variability in a mouse model of the Digeorge/del22q11 syndromes. Proc Natl Acad Sci U S A. 2001;98:11428–11431
- Tcaf1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006;103:13403–13408
- Benign hereditary chorea: a rare cause of disability. Riv Ital Pediatr. 2001;27:150–152(suppl)
- . Benign hereditary chorea. Clinical and genetic aspects. Clin Genet. 1978;13:85–95
- . Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet. 2000;66:136–142
- . Benign familial chorea: clinical characterization of an Alabama pedigree. Neurology. 1995;45:A:148
- . Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004;145:190–193
- New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord. 2006;21:2237–2240
PII: S0022-510X(07)00488-1
doi: 10.1016/j.jns.2007.06.056
© 2007 Elsevier B.V. All rights reserved.
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Journal of the Neurological Sciences
Volume 264, Issue 1
, Pages 56-62
, 15 January 2008
