Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

Devriendt, Koenraad; Vanhole, Christine; Matthijs, Gert; Zegher, Francis de

doi:10.1056/nejm199804303381817

Cited by 238 publications

(121 citation statements)

References 4 publications

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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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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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“…Возраст, в котором дети начинают ходить без посторонней помощи, варьи-рует от 15 мес до 5,5 лет [10]. В современной литературе также представлены данные о наличии атаксии у пациен-тов с синдромом МЛЩЖ, особенно у детей дошкольного возраста [12,13].…”

Section: клиническая характеристика и диагностикаunclassified

“…Таблица. Клиническая характеристика пациентов с синдромом мозг-легкие-щитовидная железа [7,8,12,13,19,20,25,[27][28][29][30][31][32][33][34][35] Редкие болезни Лечение Данные о лечении синдрома МЛЩЖ крайне ограни-чены. Сообщалось, что в отличие от большинства гипер-кинетических двигательных расстройств при данном синдроме могут быть эффективны дофаминергические препараты.…”

Section: патоморфологияunclassified

Brain–lung–thyroid Syndrome

Zhestkova¹,

Ovsyannikov²

2014

PPh

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“…Dada a importância fundamental deste gene nas morfogêneses pulmonar e cerebral, observada no modelo animal knockout, presume-se que a mutação inativadora em homozigose seria praticamente incompatível com a sobrevivência no período neonatal. De fato, os pacientes até então identifi cados, apresentam defeitos genéticos em heterozigose (deleção, inserção, mutação nonsense e missense) e quadro sindrômico que abrange problemas respiratórios no período neonatal (em alguns casos ausente ou com ampla variação de gravidade), distúrbios neurológicos (coreoatetose) e fenótipo tiroidiano variável entre eutiroidismo e HC (tiróide normal a hipoplásica) (15,(33)(34)(35)(36)(37)(38). Na literatura, a análise de famílias estabelece forte relação com coréia hereditária benigna (distúrbio de movimento autossô-mico-dominante) (39).…”

Section: Titf1unclassified

Novos aspectos da genética e dos mecanismos moleculares da morfogênese da tiróide para o entendimento da disgenesia tiroidiana

Ramos

Nesi-França

Maciel

2008

Arq Bras Endocrinol Metab

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A organogênese da tiróide ainda não está completamente elucidada, assim como também não se conhece o mecanismo patogenético da maioria dos casos de disgenesias tiroidianas. Vários genes têm sido identifi cados como importantes para a sobrevivência, a proliferação e a migração dos precursores das células tiroidianas e tem-se demonstrado que eles atuam de modo integrado. Além disso, por meio da geração de camundongos geneticamente modifi cados, diversos estudos têm trazido melhor entendimento para o papel destes genes na morfogênese tiroidiana. Finalmente, tem-se também evidenciado que mutações em alguns destes genes são responsáveis pelo desenvolvimento de disgenesias tiroidianas em crianças com hipotiroidismo congênito. O objetivo desta revisão é sumarizar os aspectos moleculares do desenvolvimento tiroidiano, descrever os modelos animais e respectivos fenótipos e oferecer novas informações sobre a ontogenia e a patogênese das disgenesias tiroidianas humanas. ABSTRACT New Aspects of Genetics and Molecular Mechanisms on Thyroid Morphogenesis for the Understading of Thyroid Dysgenesia.The elucidation of the molecular mechanisms underlying the very early steps of thyroid organogenesis and the etiology of most cases of thyroid dysgenesis are poorly understood. Many genes have been identifi ed as important contributors to survival, proliferation and migration of thyroid cells precursors, acting as an integrated and complex regulatory network. Moreover, by generation of mouse mutants, the studies have provided better knowledge of the role of these genes in the thyroid morphogenesis. In addition, it is likely that a subset of patients has thyroid dysgenesis as a result of mutations in regulatory genes expressed during embryogenesis. This review summarizes molecular aspects of thyroid development, describes the animal models and phenotypes known to date and provides information about novel insights into the ontogeny and pathogenesis of human thyroid dysgenesis.

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Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

Cited by 238 publications

References 4 publications

Nkx2-1: a novel tumor biomarker of lung cancer

Nkx2-1: a novel tumor biomarker of lung cancer

Brain–lung–thyroid Syndrome

Novos aspectos da genética e dos mecanismos moleculares da morfogênese da tiróide para o entendimento da disgenesia tiroidiana

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