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

Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.

Journal of thrombosis and haemostasis : JTH - 1 Nov 2017

Rabbolini D J, Morel-Kopp M-C, Chen Q, Gabrielli S, Dunlop L C, Chew L P, Blair N, Brighton T A, Singh N, Ng A P, Ward C M, Stevenson W S

Abstract excerpt

Essentials The phenotypes of different growth factor-independent 1B (GFI1B) variants are not established. GFI1B variants produce heterogeneous clinical phenotypes dependent on the site of mutation. Mutation of the first non-DNA-binding zinc-finger causes a mild platelet and clinical phenotype. GFI1B regulates the CD34 promoter; platelet CD34 expression is an indicator of GFI1B mutation. SUMMARY: Background...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, CD34
Share to Cytoplasmic Granules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heredity

Share to Induced Pluripotent Stem Cells

Share to Megakaryocytes

Share to Proto-Oncogene Proteins

Share to Thrombocytopenia

Share to Zinc Fingers

Source

Identifiers

PMID: 28880435
DOI: 10.1111/jth.13843

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.PMID 28880435Read ↗

GFI1B mutation causes a bleeding disorder with abnormal platelet function.Semantic proximity Read ↗

A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.Semantic proximity Read ↗

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.Semantic proximity Read ↗

GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.Semantic proximity Read ↗

Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms.Semantic proximity Read ↗

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.Semantic proximity Read ↗

Transcription Factor GFI1B in Health and DiseaseSemantic proximity Read ↗

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formationSemantic proximity Read ↗

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.Semantic proximity Read ↗

Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.Semantic proximity Read ↗

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.Semantic proximity Read ↗

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.Semantic proximity Read ↗

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