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Article

A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.

Endocrine journal - 1 Jan 2014

Yamamoto Masaaki, Iguchi Genzo, Bando Hironori, Fukuoka Hidenori, Suda Kentaro, Takahashi Michiko, Nishizawa Hitoshi, Matsumoto Ryusaku, Tojo Katsuyoshi, Mokubo Atsuko, Ogata Tsutomu, Takahashi Yutaka

Abstract excerpt

A novel clinical entity related to autoimmune polygladular syndrome (APS) termed "anti-PIT-1 antibody syndrome" is characterized by a presence of circulating autoantibody against the pituitary-specific transcriptional factor-1 (PIT-1) with acquired specific defect in GH, PRL, and TSH. Although autoimmunity to PIT-1 has been suggested, the underlying mechanisms remain to be elucidated. Sialic acid acetylesterase...

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Source

Identifiers

PMID: 24748456
DOI: 10.1507/endocrj.ej13-0539

Genes

SIAE
PRL

Variants

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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