Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
نویسندگان
چکیده
منابع مشابه
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
The occurrence of neurological symptoms and developmental delay in patients affected by congenital hypothyroidism (CH) has been attributed to the lack of thyroid hormone in the developing CNS. Accordingly, after the introduction of neonatal screening programs for CH, which allowed early and adequate treatment, an almost normal outcome for most CH patients could be achieved. However, a few patie...
متن کاملFatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis.
Defects of the NKX2-1 gene, encoding thyroid transcription factor-1, cause brain-thyroid-lung syndrome (MIM 610978), characterised by benign hereditary chorea, congenital hypothyroidism and respiratory disease. The case of a term infant with mild primary congenital hypothyroidism and neonatal persistent respiratory failure with fatal outcome at 10 months of age despite continuous ventilatory su...
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Mucinous adenocarcinoma of the lung is a subtype of highly invasive pulmonary tumors and is associated with decreased or absent expression of the transcription factor NK2 homeobox 1 (NKX2-1; also known as TTF-1). Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not with oncogenic EGFR(L858R), caused pulmonary tumors in transgenic mice that were pheno...
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A 10 year old girl with hypertrichosis associated with primary hypothyroidism that resolved after 6 months' replacement treatment with thyroxine is reported. It is important to consider the diagnosis of hypothyroidism in children with abnormal hairiness or distribution of body hair.
متن کاملHypothyroidism due to enzyme defects.
Defects in thyroid hormone production, transport and utilization are classified. Particular attention is given to inherited intrathyroidal defects in hormone synthesis which impair thyroid function and lead to goitre formation and hypothyroidism. Anomalies in biosynthesis may also result from disease or drugs. Reference is made to the derangement of iodine metabolism that results from iodine de...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2002
ISSN: 0021-9738
DOI: 10.1172/jci200214341