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Article

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

The Journal of clinical investigation - 1 Feb 2002

Pohlenz Joachim, Dumitrescu Alexandra, Zundel Dorothee, Martiné Ursula, Schönberger Winfried, Koo Eugene, Weiss Roy E, Cohen Ronald N, Kimura Shioko, Refetoff Samuel

Abstract excerpt

Three genes, TTF1, TTF2, and PAX8, involved in thyroid gland development and migration have been identified. Yet systematic screening for defects in these genes in thyroid dysgenesis gave essentially negative results. In particular, no TTF1 gene defects were found in 76 individuals with thyroid dysgenesis even though a deletion of this gene in the mouse results in thyroid and lung agenesis and defective...

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Source

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Identifiers

PMID: 11854318
DOI: 10.1172/JCI14192
PMCID: PMC150877

Genes

TTF1
PAX8
TTF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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