June 2025 in “International Journal of Nephrology and Renovascular Disease” This study suggests that PLA2R1 overexpression in PMN affects the podocyte cycle and may involve an additional immune response, which could provide new directions for PMN treatment development.
75 citations
,
September 2016 in “EMBO journal” This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.
8 citations
,
January 2018 in “Journal of Analytical Methods in Chemistry” This study developed a reliable HPLC-UV/Vis method to determine aluminum phthalocyanine chloride in skin, supporting its use in skin permeation studies for photodynamic therapy of cutaneous tumors.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study found that Polycomb Repressive Complex 1 is crucial for maintaining stem cell identity across different lineages, but its loss results in varied transcriptional outcomes depending on the tissue context.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
May 2024 in “Biochemical pharmacology” This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.
9 citations
,
July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
20 citations
,
May 2016 in “Journal of Cutaneous Pathology” This study suggests that the presence and arrangement of plasmacytoid dendritic cells can help distinguish chronic cutaneous lupus erythematosus from other types of scarring alopecia.
1 citations
,
April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
16 citations
,
September 2018 in “Journal of Molecular Liquids” This study investigated a nanostructured system using PS-b-PAA diblock copolymer for incorporating the hydrophobic photosensitizer ClAlPc, finding it effective in causing cellular damage in Caco-2 cells under light while demonstrating no cytotoxicity without light, suggesting its potential use in photodynamic therapy.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
4 citations
,
November 2016 in “Journal of Cutaneous Pathology” This letter discusses three plasmacytoid dendritic cell-related parameters that may help differentiate lupus alopecia from lichen planopilaris, but it reports no new study results.
49 citations
,
January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
11 citations
,
August 2017 in “Journal of Chromatographic Science” This study established a rapid and accurate ultra-performance liquid chromatographic method for chemical fingerprinting and analyzing Platycladi cacumen, effectively distinguishing batches based on geographical and climatic conditions.
April 2017 in “Journal of Investigative Dermatology” This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
1 citations
,
May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
65 citations
,
February 2018 in “The Plant Journal” This study found that PLDζ2 and NPC4 enzymes play distinct roles in lipid remodeling and root hair growth in Arabidopsis under phosphate deficiency, influencing root hair density and length in a tissue- and time-specific manner.
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.
1 citations
,
April 2016 in “Journal of lipid research” This study suggests that lipin-1 plays a crucial role in keratinocyte differentiation by modulating protein kinase C activity through diacylglycerol levels, with implications for skin biology.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
September 2019 in “Journal of Investigative Dermatology” This study observed that PCE-DP may improve skin pigmentation by increasing epidermal turnover and inhibiting melanin uptake and inflammation in human epidermal keratinocytes.
165 citations
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September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
April 2021 in “Journal of Investigative Dermatology” This study found that CD1a-restricted CD4+ T cells responsive to lysyl-phosphatidylglycerol were more frequent in the blood of atopic dermatitis patients, suggesting a potential role in the disease's Th2-mediated pathology.
July 2024 in “New Phytologist” This study suggests that the transcription factor PDF2 in Arabidopsis may link lipid sensing with growth responses to phosphate starvation by acting as a sensor for lyso-PCs through its START domain.