Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Blood advances - 22 Sept 2020

Bresnick Emery H, Jung Mabel M, Katsumura Koichi R

Abstract excerpt

The surge of human genetic information, enabled by increasingly facile and economically feasible genomic technologies, has accelerated discoveries on the relationship of germline genetic variation to hematologic diseases. For example, germline variation in GATA2, encoding a vital transcriptional regulator of multilineage hematopoiesis, creates a predisposition to bone marrow failure and acute myeloid leukemia...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to GATA2 Transcription Factor
Share to Hematologic Diseases
Share to Hematopoiesis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Leukemia, Myeloid, Acute

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 32960960
DOI: 10.1182/bloodadvances.2020002953
PMCID: PMC7509867

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?PMID 32960960Read ↗

Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.Semantic proximity Read ↗

Haematopoietic and immune defects associated with GATA2 mutation.Semantic proximity Read ↗

GATA2 deficiency syndrome: A decade of discoverySemantic proximity Read ↗

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignanciesSemantic proximity Read ↗

GATA2 deficiency.Semantic proximity Read ↗

GATA2 germline mutations impair GATA2 transcription, causing haploinsufficiency: functional analysis of the p.Arg396Gln mutation.Semantic proximity Read ↗

GATA factor mutations in hematologic disease.Semantic proximity Read ↗

The Clinical Spectrum, Diagnosis, and Management of GATA2 DeficiencySemantic proximity Read ↗

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.Semantic proximity Read ↗

GATA-related hematologic disorders.Semantic proximity Read ↗

GATA2 deficiency and related myeloid neoplasms.Semantic proximity Read ↗

Role of the pioneer transcription factor GATA2 in health and disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.