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

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.

Annals of hematology - 1 Dec 2024

Tsuda Shota, Sakamoto Atsushi, Kawaguchi Hiroyuki, Uchiyama Toru, Kaname Tadashi, Yanagi Kumiko, Kunishima Shinji, Ishiguro Akira

Abstract excerpt

GNE encodes a rate-limiting enzyme that regulates the biosynthesis of a sialic acid precursor. As sialic acids are critical for the platelet membrane and muscle fibers, GNE variants cause GNE-related thrombocytopenia and GNE-related myopathy. Here, we report a neonate with thrombocytopenia that initially met the criteria for neonatal allo-immune thrombocytopenia (NAIT) but was resistant to treatments and then...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Chronic Disease

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

Share to Heterozygote

Share to Infant, Newborn

Share to Multienzyme Complexes

Share to Muscular Diseases

Share to Mutation

Share to Thrombocytopenia

Source

Identifiers

PMID: 39576359
DOI: 10.1007/s00277-024-06104-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.PMID 39576359Read ↗

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathySemantic proximity Read ↗

GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.Semantic proximity Read ↗

Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.Semantic proximity Read ↗

Mutation update for GNE gene variants associated with GNE myopathy.Semantic proximity Read ↗

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathySemantic proximity Read ↗

MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approachesSemantic proximity Read ↗

GNE myopathy: from clinics and genetics to pathology and research strategiesSemantic proximity Read ↗

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.Semantic proximity Read ↗

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.Semantic proximity Read ↗

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.Semantic proximity Read ↗

Gene analysis and clinical features of 22 GNE myopathy patients.Semantic proximity Read ↗

Genetics of GNE myopathy in the non-Jewish Persian population.Semantic proximity Read ↗

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