High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2–1 mutations)
BD LeMoine, LP Browne, DR Liptzin, RR Deterding… - Pediatric …, 2019 - Springer
… mutations result in nonviable phenotypes with dysplastic formation of the lungs, pituitary and
thyroid … article reviewed the heterogeneity of lung disease in NKX2–1 mutations, with a short …
thyroid … article reviewed the heterogeneity of lung disease in NKX2–1 mutations, with a short …
[HTML][HTML] Thyroid carcinoma: phenotypic features, underlying biology and potential relevance for targeting therapy
J Hu, IJ Yuan, S Mirshahidi, A Simental, SC Lee… - International journal of …, 2021 - mdpi.com
… Phenotypic heterogeneity in tumor cell populations that … the phenotypic heterogeneity in
subtypes of thyroid cancers. … and inhibited the lung metastasis development in a thyroid cancer …
subtypes of thyroid cancers. … and inhibited the lung metastasis development in a thyroid cancer …
[HTML][HTML] Heterogeneity of lung disease associated with NK2 homeobox 1 mutations
E Nattes, S Lejeune, A Carsin, R Borie, I Gibertini… - Respiratory …, 2017 - Elsevier
… The aim of this study was to describe the pulmonary phenotypes in patients with NKX2-1
mutations, including the clinical and radiological features, course of treatment and outcome. …
mutations, including the clinical and radiological features, course of treatment and outcome. …
TAZ/WWTR1 mediates the pulmonary effects of NKX2-1 mutations in brain-lung-thyroid syndrome
CM Moya, MA Zaballos, L Garzón… - The Journal of …, 2018 - academic.oup.com
… BLTS shows a striking phenotypic heterogeneity, both in the number of organs affected
and in the severity of the disease. Most patients present with benign hereditary chorea and …
and in the severity of the disease. Most patients present with benign hereditary chorea and …
Heterogeneity of thyroid cancer
E Chmielik, D Rusinek, M Oczko-Wojciechowska… - Pathobiology, 2018 - karger.com
… of traditionally common cancers such as melanoma and breast, lung, … phenotypic heterogeneity
of the tumour centre and tumour border was observed in a study of encapsulated thyroid …
of the tumour centre and tumour border was observed in a study of encapsulated thyroid …
Molecular defects in thyroid dysgenesis
… NKX2-1 mutations are associated to the “brain-lung-thyroid” syndrome, a triad characterized
… the phenotypic heterogeneity (either inter or intra-familial) of subjects harboring mutation of …
… the phenotypic heterogeneity (either inter or intra-familial) of subjects harboring mutation of …
First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
M Prapa, M Lago-Docampo, EM Swietlik… - … journal of respiratory …, 2022 - atsjournals.org
… Our study identifies genetic determinants of TBX4 disease heterogeneity, inclusive of …
associated with later-onset lung disease. It draws important conclusions on genotype–phenotype …
associated with later-onset lung disease. It draws important conclusions on genotype–phenotype …
Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC
SJ Attarian, SL Leibel, P Yang, DN Alfano… - Pediatric …, 2018 - nature.com
… gene expression with these mutations contributes to the respiratory phenotypes observed. …
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription …
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription …
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid
N Camats, N Baz-Redón… - The Journal of …, 2021 - academic.oup.com
… Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases … and lung,
which is why some mutations in these genes cause syndromic phenotypes that are associated …
which is why some mutations in these genes cause syndromic phenotypes that are associated …
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
C Galambos, MP Mullen, JT Shieh… - … Respiratory Journal, 2019 - Eur Respiratory Soc
… Although PAH is heterogeneous, genetic defects relevant to pulmonary … Mutations in
the bone morphogenetic protein (BMP) receptor type 2 gene (BMPR2) and other BMP-associated …
the bone morphogenetic protein (BMP) receptor type 2 gene (BMPR2) and other BMP-associated …