Recent advances in understanding the molecular basis of primary congenital hypothyroidism (Q33818742)

29 July 2017

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title

Recent advances in understanding the molecular basis of primary congenital hypothyroidism (English)

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29 July 2017

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Macchia PE

1

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29 July 2017

publication date

1 January 2000

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Trends in Molecular Medicine

29 July 2017

published in

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29 July 2017

volume

6

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29 July 2017

issue

1

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29 July 2017

page(s)

36-42

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Epidemiology of congenital hypothyroidism

29 July 2017

cites work

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Thyroid-specific gene expression

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7 January 2021

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

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7 January 2021

Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.

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7 January 2021

Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A mouse model for hereditary thyroid dysgenesis and cleft palate

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7 January 2021

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

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Follicular cells of the thyroid gland require Pax8 gene function

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7 January 2021

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

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7 January 2021

Independent regulation of the two Pax5 alleles during B-cell development.

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7 January 2021

Inherited primary hypothyroidism in mice

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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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7 January 2021

Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism

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7 January 2021

Cloning of the human sodium lodide symporter

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7 January 2021

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

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7 January 2021

Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene

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7 January 2021

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site

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7 January 2021

A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect

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7 January 2021

Novel, Missense, and Loss-of-Function Mutations in the Sodium/Iodide Symporter Gene Causing Iodide Transport Defect in Three Japanese Patients

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7 January 2021

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

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7 January 2021

DEAF-MUTISM AND GOITRE

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7 January 2021

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

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7 January 2021

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

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7 January 2021

A mutation in PDS causes non-syndromic recessive deafness

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7 January 2021

Two frequent missense mutations in Pendred syndrome

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7 January 2021

The Pendred syndrome gene encodes a chloride-iodide transport protein

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7 January 2021

Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands

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7 January 2021

10.1016/S1357-4310(99)01620-2

Identifiers

DOI

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29 July 2017

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