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Article

Functional Defects From Endocrine Disease-Associated Mutations in HLXB9 and Its Interacting Partner, NONO.

Endocrinology - 1 Feb 2018

Kharade Sampada S, Parekh Vaishali I, Agarwal Sunita K

Abstract excerpt

The insulin-secreting pancreatic neuroendocrine tumors, insulinomas, characterized by increased pancreatic islet β-cell proliferation, express the phosphorylated isoform of the β-cell differentiation factor HLXB9 that interacts with NONO/p54NRB, a survival factor. Interestingly, two different homozygous germline mutations in HLXB9, p.F248L and p.F272L, were reported in neonatal diabetes, a condition with...

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Identifiers

PMID: 29309627
DOI: 10.1210/en.2017-03155
PMCID: PMC5793795

Genes

NONO

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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