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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.
Batjargal K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
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
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
Iwahashi-Odano M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia.
Iwahashi-Odano M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric 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
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.
Martin-Montalvo A et al.
Diabetes, 2019
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
Zou M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Somatic mutations and increased lymphangiogenesis observed in a rare case of intramucosal gastric carcinoma with lymph node metastasis.
Ikari N et al.
Oncotarget, 2018
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
Liu S et al.
Oncotarget, 2017
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome.
Hermanns P et al.
Thyroid : Official Journal of the American Thyroid Association, 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
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
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
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.
Narumi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family.
Codutti L et al.
The Journal of Biological Chemistry, 2008
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
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany.
Lanzerath K et al.
Hormone Research, 2006
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
Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases.
Castanet M et al.
Pediatric Research, 2005
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.
Castanet M et al.
European Journal of Human Genetics : Ejhg, 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
Molecular genetic defects in congenital hypothyroidism.
Grüters A et al.
European Journal of Endocrinology, 2004
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Bereket A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
WBP-2, a WW domain binding protein, interacts with the thyroid-specific transcription factor Pax8.
Nitsch R et al.
The Biochemical Journal, 2004
[Genetic aspects in congenital hypothyrodism].
Perone D et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 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
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