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Article

Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.

The Journal of clinical investigation - 1 Oct 2014

Shen Wenyi, Clemente Michael J, Hosono Naoko, Yoshida Kenichi, Przychodzen Bartlomiej, Yoshizato Tetsuichi, Shiraishi Yuichi, Miyano Satoru, Ogawa Seishi, Maciejewski Jaroslaw P, Makishima Hideki

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal disease of hematopoietic stem cells that is associated with hemolysis, marrow failure, and thrombophilia. PNH has been considered a monogenic disease that results from somatic mutations in the gene encoding PIGA, which is required for biosynthesis of glycosylphosphatidylinisotol-anchored (GPI-anchored) proteins. The loss of certain GPI-anchored...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25244093
DOI: 10.1172/JCI74747
PMCID: PMC4191017

Genes

PIGA
GPI
JAK2
SUZ12
TET2

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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