Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.
Mydlárová Blaščáková M et al.
Central European Journal of Public Health, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 2021
Genetic Variability of the Paired Box Transcription Factor; PAX8 Gene: Guidance Towards Treatment Strategies in a Cohort of Congenital Hypothyroidism.
El-Ella SSA et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2021
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K et al.
Endocrine Connections, 2020
Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.
Li M et al.
Endokrynologia Polska, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Qian F et al.
Chinese Medical Journal, 2019
Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain.
Iwahashi M et al.
Journal of Molecular Endocrinology, 2019
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.
Fan X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Resistance to thyrotropin.
Grasberger H et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S et al.
Oncotarget, 2017
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf C et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.
Fu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
Zou H et al.
International Journal of Clinical and Experimental Pathology, 2015
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.
Ramos HE et al.
European Journal of Endocrinology, 2014
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Hermanns P et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.
Liu SG et al.
Journal of Endocrinological Investigation, 2012
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
Narumi S et al.
European Journal of Endocrinology, 2012
Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2.
Toledo RA et al.
Clinical Endocrinology, 2012
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation.
Alcántara-Ortigoza MA et al.
Clinical Endocrinology, 2012
Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.
Montanelli L et al.
Molecular and Cellular Endocrinology, 2010
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.
Jo W et al.
Journal of Thyroid Research, 2010
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.
Esperante SA et al.
Clinical Endocrinology, 2008
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant.
Tonacchera M et al.
Clinical Endocrinology, 2007
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
Al Taji E et al.
European Journal of Endocrinology, 2007
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Grasberger H et al.
Molecular Endocrinology (baltimore, Md.), 2005
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.
de Sanctis L et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31.
Komatsu M et al.
The Journal of Pediatrics, 2001
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
Congdon T et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Recent advances in understanding the molecular basis of primary congenital hypothyroidism.
Macchia PE
Molecular Medicine Today, 2000
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
Macchia PE et al.
Nature Genetics, 1998