Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

Pohlenz, Joachim; Dumitrescu, Alexandra M.; Zundel, Dorothee; Martiné, Ursula; Schönberger, W; Koo, Eugene; Weiss, Roy E.; Cohen, Ronald N.; Kimura, Shioko; Refetoff, Samuel

doi:10.1172/jci200214192

Cited by 33 publications

(29 citation statements)

References 25 publications

(31 reference statements)

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“…Subsequent reinvestigation of heterozygous Nkx2-5 mice revealed subtle functional and morphological cardiac defects influenced by the genetic background (22). Similar findings in heterozygous NKX2-1 mice have now been reported (23). This dominant inheritance of transcription factor mutations with species-specific sensitivity to gene dosage has already been described for members of other transcription factor gene families involved in early development, such as PAX genes (24).…”

Section: Discussionsupporting

confidence: 70%

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Krude¹,

Schütz²,

Biebermann³

et al. 2002

J. Clin. Invest.

282

159

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Section: Discussionsupporting

confidence: 70%

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Krude¹,

Schütz²,

Biebermann³

et al. 2002

J. Clin. Invest.

282

159

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“…An additional patient exhibited hearing impairment, that might suggest a role for genes involved in both neurological and auditory development as well as in thyroid hormonogenesis. Mutations of the NKX2.1 ( TTF1 ) gene have been reported in patients who had both CH and neurological defects [29,30,31], but perchlorate-discharge-test results are not available. Thus, we can hypothesize that patients with PIOD and neurodevelopmental delay may have mutations in the NKX2.1 gene.…”

Section: Discussionmentioning

confidence: 99%

Clinical Description of Infants with Congenital Hypothyroidism and Iodide Organification Defects

et al. 2008

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Aims: To describe the phenotype of a large group of children with congenital hypothyroidism (CH) and iodide organification defect (IOD), suspected based on normal thyroid position and abnormal perchlorate discharge test, as first step of a project evaluating correlations between phenotypes and genotypes. Methods: 71 children born in Paris between 1980 and 2006 were included. Two groups were defined according to perchlorate discharge: total IOD (TIOD) when the release was above 90% and partial IOD (PIOD) between 10 and 90%. Comparisons between groups were performed using SPSS 14.0 for Windows. Results: The incidence of IOD over the 2003–2006 period was 1:20,660. Of the 71 children, 61 had PIOD and 10 TIOD. Compared to PIOD, TIOD was characterized by greater clinical severity. A wide spectrum of clinical features was seen in the PIOD group. Evolution showed transient hypothyroidism in 10/61 patients with PIOD and 1/10 TIOD patients. Conclusions: Severe presentation in the majority of TIOD patients suggests dysfunction of a key iodide-organification enzyme. In contrast, the variety of clinical features in PIOD group suggests that diverse mechanisms may lead to PIOD, such as delayed or reduced activity of enzymes involved in hormonogenesis or defects in iodine storage and release.

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“…Perturbed expression due to gene deletions, missense mutations or nonsense mutations Devriendt et al, 1998;Iwatani et al, 2000;Krude et al, 2002;Pohlenz et al, 2002;Doyle et al, (Weir et al, 2007). Furthermore, amplification of the Nkx2-1 gene was the single most common focal genetic event detected by high-resolution copy-number analysis of lung ADC.…”

Section: Lung Cancer Expressionmentioning

confidence: 99%

Nkx2-1: a novel tumor biomarker of lung cancer

Lin

Ruan

et al. 2012

J. Zhejiang Univ. Sci. B

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Nkx2-1 (Nkx homeobox-1 gene), also known as TTF-1 (thyroid transcription factor-1), is a tissue-specific transcription factor of the thyroid, lung, and ventral forebrain. While it has been shown to play a critical role in lung development and lung cancer differentiation and morphogenesis, molecular mechanisms mediating Nkx2-1 cell-and tissue-specific expression in normal and cancerous lungs have yet to be fully elucidated. The recent identification of prognostic biomarkers in lung cancer, particularly in lung adenocarcinoma (ADC), and the different reactivity of patients to chemotherapeutic drugs have opened new avenues for evaluating patient survival and the development of novel effective therapeutic strategies. The function of Nkx2-1 as a proto-oncogene was recently characterized and the gene is implicated as a contributory factor in lung cancer development. In this review, we summarize the role of this transcription factor in the development, diagnosis, and prognosis of lung cancer in the hope of providing insights into the utility of Nkx2-1 as a novel biomarker of lung cancer.

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Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

Cited by 33 publications

References 25 publications

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Clinical Description of Infants with Congenital Hypothyroidism and Iodide Organification Defects

Nkx2-1: a novel tumor biomarker of lung cancer

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