4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
17 citations
,
July 2024 in “Frontiers in Oncology” This review discusses recent advances in understanding Merkel cell carcinoma biology, including the development of genetically-engineered mouse models and potential therapeutic targets, but reports no new clinical results.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.
43 citations
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May 1999 in “Journal of Biological Chemistry” This study found that full-length Agouti protein modulates melanocortin receptor signaling through a dual mechanism involving competitive antagonism and receptor down-regulation, whereas the carboxyl-terminal fragment acts solely as a competitive antagonist.
This study found that GPC1 is a key regulator of angiogenesis in hair follicles and may be an interesting target for addressing alopecia in dermatology research.
4 citations
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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.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
1 citations
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September 2004 in “Experimental Dermatology” This study found that α-melanocyte-stimulating hormone may modulate inflammation in skin connective tissue by inhibiting proinflammatory effects in fibroblasts.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
This study found that GPC1 is a significant regulator of angiogenesis in human dermal microvascular endothelial cells, suggesting its potential as a target for alopecia research.
August 1994 in “Molecular Endocrinology” This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.
3 citations
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April 2022 in “Frontiers in Physiology” This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.
1 citations
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January 2016 in “Journal of Biosciences and Medicines” This study found that the ACTH/MC2R system is important for hair cycle regulation, with deficiencies in MC2R leading to altered hair growth phases in mice.
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.
January 2026 in “JCEM Case Reports” This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.
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.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
79 citations
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October 2003 in “PubMed” In this study, PKCepsilon transgenic mice showed increased TNFalpha shedding during skin tumor promotion, which may contribute to the development of metastatic squamous cell carcinoma.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.
176 citations
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February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
3 citations
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May 2025 in “Cell Death and Disease” This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.
2 citations
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June 2023 in “Medicine” This case report describes the occurrence of a very rare disease, MTPC, in the elbow of a man who does not match the typical etiology, highlighting its academic significance.
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.
This study found that GPC1 plays a crucial role in regulating angiogenesis in human dermal microvascular endothelial cells, which may make it a potential target in alopecia treatment research.
87 citations
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July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
101 citations
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June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
2 citations
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August 2022 in “Viruses” This study found that cutaneous squamous cell carcinomas in mice infected with murine papillomavirus preferentially arise from Lgr5+ progenitor cells, while squamous cell dysplasia does not.
March 2024 in “Preprints.org” In a study conducted on mice, researchers observed that exposure to ionizing radiation led to significant metabolic imbalances, including dyslipidemia and disruptions in amino acid metabolism, with activated protein C providing partial protection by normalizing certain plasma metabolites and lipids.