Associated Papers
A Novel PLCD1 Variant in Familial Trichilemmal Cysts With Leukonychia: Per-Cyst Second Hits Support a Monoallelic Two-Hit Mechanism.
Lei X et al.
The Journal of Dermatology, 2026
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient.
Conway J et al.
Jaad Case Reports, 2024
One recurrent heterozygous mutation of the PLCD1 gene in a Chinese family with hereditary leukonychia: A case report and genotype-phenotype correlation analysis.
Zhang F et al.
The Journal of Dermatology, 2023
Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia.
Shen S et al.
Molecular Medicine Reports, 2021
Reframing the Biological Basis of Neuroprotection Using Functional Genomics: Differentially Weighted, Time-Dependent Multifactor Pathogenesis of Human Ischemic Brain Damage.
Kofke WA et al.
Frontiers in Neurology, 2018
29997569 (PubMed )
Supplement: Presentation_1.PDF
Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers.
Kubo Y et al.
Plos One, 2017
29016630 (PubMed )
Supplement: pone.0185476.s001.docx
Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study.
Nakatochi M et al.
Plos One, 2015
25646961 (PubMed )
Supplement: pone.0117591.s001.docx
Coronary vasospasm induced in transgenic mouse with increased phospholipase C-δ1 activity.
Shibutani S et al.
Circulation, 2012
Association of genetic variants with myocardial infarction in Japanese individuals with metabolic syndrome.
Oguri M et al.
Atherosclerosis, 2009
Genetic factors for obesity.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Assessment of genetic factors for type 2 diabetes mellitus.
Yamada Y et al.
International Journal of Molecular Medicine, 2006
Variants in the GH-IGF axis confer susceptibility to lung cancer.
Rudd MF et al.
Genome Research, 2006
Enhanced activity of variant phospholipase C-delta1 protein (R257H) detected in patients with coronary artery spasm.
Nakano T et al.
Circulation, 2002
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