Genetics of congenital hypothyroidism (Q35448393)

8 August 2017

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title

Genetics of congenital hypothyroidism (English)

1 reference

congenital hypothyroidism

8 August 2017

0 references

1 reference

Park SM

1

1 reference

8 August 2017

Chatterjee VK

series ordinal

2

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8 August 2017

language of work or name

English

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publication date

1 May 2005

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

42

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8 August 2017

issue

5

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8 August 2017

page(s)

379-389

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Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

8 August 2017

cites work

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Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development.

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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

27 July 2018

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Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

27 July 2018

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Intrauterine diagnosis and management of congenital goitrous hypothyroidism

27 July 2018

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Mutations in TITF-1 are associated with benign hereditary chorea

27 July 2018

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

27 July 2018

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

27 July 2018

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A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child

27 July 2018

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Thyroid transcription factor 1 and Pax8 synergistically activate the promoter of the human thyroglobulin gene

27 July 2018

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

27 July 2018

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A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.

27 July 2018

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Pax8 has a key role in thyroid cell differentiation

27 July 2018

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Activating and inactivating mutations in the human GNAS1 gene

27 July 2018

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Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters

27 July 2018

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Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation

27 July 2018

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Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

27 July 2018

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The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription

27 July 2018

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A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases

27 July 2018

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

27 July 2018

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A mouse model for hereditary thyroid dysgenesis and cleft palate

27 July 2018

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PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

27 July 2018

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27 July 2018

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27 July 2018

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

27 July 2018

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PAX 8 regulates human WT1 transcription through a novel DNA binding site

27 July 2018

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27 July 2018

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Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992

27 July 2018

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TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation

27 July 2018

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Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

27 July 2018

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Congenital hypothyroidism caused by a mutation in the Na+/I- symporter

27 July 2018

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27 July 2018

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Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones

27 July 2018

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Pax genes and their roles in cell differentiation and development

27 July 2018

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Neuropsychologic development in early treated congenital hypothyroidism: analysis of literature data

27 July 2018

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An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism

27 July 2018

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Cloning and characterization of the thyroid iodide transporter

27 July 2018

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The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary

27 July 2018

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PAX genes: what's new in developmental biology and cancer?

27 July 2018

1 reference

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Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

27 July 2018

1 reference

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Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse

27 July 2018

1 reference

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Thyroid-specific gene expression

27 July 2018

1 reference

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Structure and function of G protein-coupled receptors

27 July 2018

1 reference

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Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect

27 July 2018

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Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants.

27 July 2018

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Lung cell-specific expression of the murine surfactant protein A (SP-A) gene is mediated by interactions between the SP-A promoter and thyroid transcription factor-1

27 July 2018

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Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

27 July 2018

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Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumors

27 July 2018

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The role of Hoxa-3 in mouse thymus and thyroid development

27 July 2018

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Redundant Domains Contribute to the Transcriptional Activity of the Thyroid Transcription Factor 1

27 July 2018

1 reference

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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

27 July 2018

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Congenital Goiter with Defective Iodide Transport

27 July 2018

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Localization of the thyroglobulin gene by in situ hybridization to human chromosomes

27 July 2018

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Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4.

27 July 2018

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Isolation and characterization of the human Gs alpha gene

27 July 2018

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Congenital hypothyroidism, spiky hair, and cleft palate

27 July 2018

1 reference

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The ultimobranchial gland and congenital thyroid abnormalities in man.

27 July 2018

1 reference

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A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter

27 July 2018

1 reference

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The structure and function of the homeodomain

27 July 2018

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Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization

27 July 2018

1 reference

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Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity

27 July 2018

1 reference

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The H2O2-generating system modulates protein iodination and the activity of the pentose phosphate pathway in dog thyroid

27 July 2018

1 reference

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The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain

27 July 2018

1 reference

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Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features

27 July 2018

1 reference

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Cell-type-specific expression of the rat thyroperoxidase promoter indicates common mechanisms for thyroid-specific gene expression

27 July 2018

1 reference

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Genetic Linkage Studies of Thyroid Peroxidase (TPO) Gene in Families with TPO Deficiency*

27 July 2018

1 reference

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The Thyrotropin Receptor and the Regulation of Thyrocyte Function and Growth*

27 July 2018

1 reference

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Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter

27 July 2018

1 reference

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PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Comparison of Epidemiological Data on Congenital Hypothyroidism in Europe with Those of Other Parts in the World

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor

26 September 2018

1 reference

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Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis

26 September 2018

1 reference

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Deafness with sporadic goiter. Pendred's syndrome.

26 September 2018

1 reference

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Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair.

26 September 2018

1 reference

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Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Thyroid resistance to TSH complicated by autoimmune thyroiditis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Expression of reduced nicotinamide adenine dinucleotide phosphate oxidase (ThoX, LNOX, Duox) genes and proteins in human thyroid tissues

26 September 2018

1 reference

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Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin

26 September 2018

1 reference

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Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism

26 September 2018

1 reference

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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

26 September 2018

1 reference

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Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism.

26 September 2018

1 reference

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Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Follicular cells of the thyroid gland require Pax8 gene function

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

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?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

NK-2 homeobox genes and heart development

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Thyroid C cells in the DiGeorge anomaly: a quantitative study.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Timing of vulnerability of the brain to iodine deficiency in endemic cretinism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736062

A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect

15 November 2018

1 reference

12 December 2020

Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene

1 reference

12 December 2020

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

1 reference

12 December 2020

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)

1 reference

12 December 2020

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

1 reference

12 December 2020

Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C

1 reference

12 December 2020

Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene

1 reference

12 December 2020

Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter

1 reference

12 December 2020

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism

1 reference

12 December 2020

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor

1 reference

12 December 2020

Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles

1 reference

12 December 2020

The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Four families with loss of function mutations of the thyrotropin receptor

1 reference

12 December 2020

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism

1 reference

12 December 2020

Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism

1 reference

12 December 2020

Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene

1 reference

12 December 2020

A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect

1 reference

12 December 2020

Intellectual development in children with congenital hypothyroidism in relation to recommended thyroxine treatment

1 reference

12 December 2020

Composite structure of the human thyrotropin receptor gene

1 reference

12 December 2020

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2004.024158

1 reference

8 August 2017

1 reference

8 August 2017

1 reference