35 citations
,
January 2011 in “Journal of Biological Chemistry” This study found that overexpression of sPLA2-X in mice was associated with alopecia and hair follicle abnormalities, highlighting its potential role in hair follicle homeostasis.
8 citations
,
February 2022 in “Scientific Reports” This study suggests that 20 vital medicinal herbs may exert therapeutic effects on alopecia by regulating specific target genes and proteins, offering insights into their novel mechanisms distinct from conventional drugs.
23 citations
,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This article reviews the roles of lesser-known secreted phospholipase A2 isoforms in various biological processes, such as immune suppression, metabolic regulation, epidermal hyperplasia, and male reproduction, without reporting new clinical findings.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
22 citations
,
June 2012 in “PLOS ONE” In this study, researchers found that impaired cholesterol biosynthesis in hair follicles may trigger an inflammatory immune response linked to primary cicatricial alopecia, providing new insights into the disorder's pathogenesis.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
11 citations
,
April 2017 in “Journal of The European Academy of Dermatology and Venereology” This study found that long non-coding RNAs are differentially expressed in androgenetic alopecia, suggesting potential roles in its development and novel targets for prevention and treatment.
18 citations
,
March 2024 in “Frontiers in Pharmacology” This review highlights that the NLRP3 inflammasome is a promising therapeutic target for cerebral ischemia-reperfusion injury and discusses recent advancements in using natural plant products to modulate this pathway and reduce inflammation.
34 citations
,
August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
March 2008 in “British Journal of Pharmacology” This guide provides an overview of the complex roles and mechanisms of various receptors and channels in pharmacology but does not report new experimental results.
26 citations
,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that mice lacking sPLA2-IIE had distinct skin abnormalities, particularly affecting hair follicles, highlighting the differing roles of sPLA2 isoforms in mouse skin.
11 citations
,
February 2011 in “International Journal of Molecular Sciences” This article reviews sPLA2-mediated phospholipid metabolism using sPLA2 transgenic/knockout mice and lipid mass spectrometry, offering insights into the distinct roles of sPLA2 enzymes in various biological events.
29 citations
,
November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
24 citations
,
December 2018 in “Inflammation and Regeneration” This review discusses the roles of various PLA2 enzymes in skin health and disease, highlighting potential pathways for future diagnosis and therapy, but it reports no new clinical results.
1 citations
,
November 2011 in “British journal of pharmacology” This abstract provides a comprehensive overview of enzyme classification, function, and interaction with drugs, but does not present new research findings.
February 2026 in “Nature Communications” In this study, researchers created a detailed human skin cell atlas by analyzing over 700,000 cells, finding that disrupted communication among specific immune and stromal cell subsets may play a key role in initiating and sustaining chronic skin inflammation in atopic dermatitis.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
253 citations
,
April 2009 in “Journal of Biological Chemistry” This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
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.
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.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
4 citations
,
December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.