Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis (Q40089801)

17 September 2017

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis (English)

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17 September 2017

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Jeanne Amiel

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Guy Van Vliet

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Guy Van Vliet

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Aurore Carré

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Mireille Castanet

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Sylvia Sura-Trueba

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Gabor Szinnai

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Juliane Léger

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Paul Czernichow

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Virginie Scotet

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Michel Polak

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https://scigraph.springernature.com/pub.10.1007/s00439-007-0420-5

17 September 2017

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Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies

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https://api.crossref.org/works/10.1007%2FS00439-007-0420-5

Purification and characterization of thyroid transcription factor 2.

21 January 2018

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Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease

21 January 2018

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12 December 2020

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

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12 December 2020

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

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12 December 2020

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

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12 December 2020

Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism

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12 December 2020

Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis

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12 December 2020

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.

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12 December 2020

Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome.

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12 December 2020

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

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12 December 2020

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

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12 December 2020

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8

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12 December 2020

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

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12 December 2020

Alanine tracts: the expanding story of human illness and trinucleotide repeats

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12 December 2020

Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure

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12 December 2020

A mouse model demonstrates a multigenic origin of congenital hypothyroidism

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12 December 2020

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

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12 December 2020

FKHL15, a new human member of the forkhead gene family located on chromosome 9q22

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12 December 2020

Thyroid Development and Its Disorders: Genetics and Molecular Mechanisms

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12 December 2020

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

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12 December 2020

A mouse model for hereditary thyroid dysgenesis and cleft palate

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12 December 2020

An integrated regulatory network controlling survival and migration in thyroid organogenesis

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12 December 2020

The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription

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12 December 2020

Molecular mechanisms of thyroid dysgenesis

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12 December 2020

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

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12 December 2020

The other trinucleotide repeat: polyalanine expansion disorders

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12 December 2020

Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

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12 December 2020

TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism

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12 December 2020

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis

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12 December 2020

Four families with loss of function mutations of the thyrotropin receptor

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12 December 2020

Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

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12 December 2020

A genome-wide association study identifies novel risk loci for type 2 diabetes

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12 December 2020

The thyroid transcription factor 2 (TTF-2) is a promoter-specific DNA-binding independent transcriptional repressor

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12 December 2020

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

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12 December 2020

Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate.

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12 December 2020

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

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12 December 2020

Variants in common diseases

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12 December 2020

Follicular cells of the thyroid gland require Pax8 gene function

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12 December 2020

Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2).

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12 December 2020

Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors

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12 December 2020

Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism

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12 December 2020

10.1007/S00439-007-0420-5

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17 September 2017

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