This study found that PRL-1-overexpressing PD-MSCs reduced adipogenesis in orbital fibroblasts from Graves' ophthalmopathy patients by secreting IGFBPs and modulating the FAK pathway.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
38 citations
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April 2017 in “PLOS Genetics” This study found that human progenitor keratinocytes form unique complements of enhancers and super-enhancers during differentiation and migration, influencing gene expression and skin disease variant enrichment.
In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.
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.
23 citations
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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.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
1 citations
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May 2025 in “The Journal of Rheumatology” This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.
13 citations
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September 2012 in “Cell & tissue research/Cell and tissue research” In this study, researchers found that the pCLCA2 protein is expressed in specific areas of pig skin, but its role in skin structure or function remains unclear.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
September 2022 in “The American Journal of Dermatopathology” This study found that IL-17 expression was significantly higher in perifollicular fibrosis of active Lichen planopilaris lesions, suggesting that targeting IL-17 could impact the disease's progression.
April 2023 in “Journal of Investigative Dermatology” This study found that PX-12 inhibited the NLRP3 inflammasome and reduced psoriasis-like symptoms in a mouse model, suggesting its potential as a treatment for psoriasis.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
26 citations
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July 2007 in “Wound Repair and Regeneration” This study found that MRL/MpJ mice heal burn wounds with scar formation, experiencing delayed wound closure and impaired myofibroblast development, which contrasts with quicker contraction in BALB/c mice.
38 citations
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January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
27 citations
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February 2020 in “EMBO Reports” This study concluded that MEX3A is critical for maintaining Lgr5+ intestinal stem cells by regulating the PPARγ pathway, impacting intestinal homeostasis during postnatal development in mice.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study found that NLRP1 in human melanoma cells promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
12 citations
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September 1999 in “The journal of experimental zoology/Journal of experimental zoology” This study found that reducing circulating PRL levels is not necessary for the onset of winter hair growth in mink and that adrenal glands do not inhibit this process through DHEA or its metabolite Delta(5)-DIOL.
20 citations
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November 2020 in “Stem Cell Research & Therapy” This study found that placenta-derived mesenchymal stem cells overexpressing PRL-1 inhibited adipogenesis in orbital fibroblasts from Graves’ ophthalmopathy patients by modulating specific signaling pathways, suggesting a potential therapeutic strategy.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.