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Article

Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.

The Biochemical journal - 1 Jul 1999

Tell G, Pellizzari L, Esposito G, Pucillo C, Macchia P E, Di Lauro R, Damante G

Abstract excerpt

Pax proteins are transcriptional regulators that play important roles during embryogenesis. These proteins recognize specific DNA sequences via a conserved element: the paired domain (Prd domain). The low level of organized secondary structure, in the free state, is a general feature of Prd domains; however, these proteins undergo a dramatic gain in alpha-helical content upon interaction with DNA ('induced fit')....

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Identifiers

PMID: 10377248
PMCID: PMC1220333

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism.PMID 10377248Read ↗

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.Semantic proximity Read ↗

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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.Semantic proximity Read ↗

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Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.Semantic proximity Read ↗

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

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Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8Semantic proximity Read ↗

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations.Semantic proximity Read ↗

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