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

Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome.

British journal of haematology - 1 Feb 2002

Fleischman Roger A, Letestu Rémi, Mi Xiafang, Stevens David, Winters Jeffrey, Debili Najet, Vainchenker William

Abstract excerpt

Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome. For example, targeted disruptions of these Hox genes result in abnormal development of the mouse radius, while overexpression of HoxA10 stimulates mouse megakaryocyte (MK) development in vitro. To examine the expression of Hox genes in human MK cells, we utilized...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Northern
Share to Fetal Blood

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Homeobox

Share to Megakaryocytes

Share to Radius

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Syndrome

Share to Thrombocytopenia

Source

Identifiers

PMID: 11841440
DOI: 10.1046/j.1365-2141.2002.03263.x

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

Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome.PMID 11841440Read ↗

Thrombocytopenia-absent radius syndrome: a clinical genetic studySemantic proximity Read ↗

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.Semantic proximity Read ↗

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.Semantic proximity Read ↗

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeSemantic proximity Read ↗

Thrombocytopenia-absent radius syndrome.Semantic proximity Read ↗

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASemantic proximity Read ↗

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).Semantic proximity Read ↗

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.Semantic proximity Read ↗

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.Semantic proximity Read ↗

HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro.Semantic proximity Read ↗

Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.Semantic proximity Read ↗

Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations.Semantic proximity Read ↗

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