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

Digital clubbing without hypoxia for lysinuric protein intolerance.

European journal of medical genetics - 1 Oct 2024

Watanabe Daisuke, Tsujioka Yuko, Nakato Daisuke, Yamada Mamiko, Suzuki Hisato, Ohnishi Takuma, Tamai Naotaka, Kijima Toshihide, Takenouchi Toshiki, Miya Fuyuki, Narumi Satoshi, Kosaki Kenjiro

Abstract excerpt

Digital clubbing is characterized by bulbous enlargement of the terminal segments of the fingers. Hypotheses including hypoxia have been proposed for the pathogenesis of digital clubbing, but the exact pathogenesis of digital clubbing is still uncertain. Lysinuric protein intolerance (LPI) is caused by pathogenic variants in SLC7A7 and is often associated with interstitial lung disease. Previously two patients of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoxia

Share to Lung Diseases, Interstitial

Share to Mutation

Source

Identifiers

PMID: 39151655
DOI: 10.1016/j.ejmg.2024.104967

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Digital clubbing without hypoxia for lysinuric protein intolerance.PMID 39151655Read ↗

A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.Semantic proximity Read ↗

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.Semantic proximity Read ↗

Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.Semantic proximity Read ↗

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.Semantic proximity Read ↗

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.Semantic proximity Read ↗

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.Semantic proximity Read ↗

Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.Semantic proximity Read ↗

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.Semantic proximity Read ↗

A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.Semantic proximity Read ↗

A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.Semantic proximity Read ↗

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