Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

doi:10.1016/j.jaci.2016.09.035

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Article

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

The Journal of allergy and clinical immunology - 1 Jul 2017

Kagawa Reiko, Fujiki Ryoji, Tsumura Miyuki, Sakata Sonoko, Nishimura Shiho, Itan Yuval, Kong Xiao-Fei, Kato Zenichiro, Ohnishi Hidenori, Hirata Osamu, Saito Satoshi, Ikeda Maiko, El Baghdadi Jamila, Bousfiha Aziz, Fujiwara Kaori, Oleastro Matias, Yancoski Judith, Perez Laura, Danielian Silvia, Ailal Fatima, Takada Hidetoshi, Hara Toshiro, Puel Anne, Boisson-Dupuis Stéphanie, Bustamante Jacinta, Casanova Jean-Laurent, Ohara Osamu, Okada Satoshi, Kobayashi Masao

Abstract excerpt

BACKGROUND: Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases, or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis. LOF and GOF mutations are equally rare and can affect the same domains of STAT1, especially the coiled-coil domain...

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Identifiers

PMID: 28011069
DOI: 10.1016/j.jaci.2016.09.035
PMCID: PMC5471135

Genes

STAT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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