This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
115 citations
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December 2019 in “The Plant Journal” This study found that nitrate, rather than ammonium, significantly enhances phosphate starvation responses in plants through a regulatory cascade involving NIGT1, SPX, and PHR1 proteins.
11 citations
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April 2021 in “Cancers” This study identified a small molecule that activates GLI1, suppressing neuroblastoma cell growth, which may aid in developing new treatments for high-risk neuroblastoma cases.
January 2011 in “Xibei nongye xuebao” This study found that the K14 promoter exhibited higher activity in skin cell lines compared to other cell lines, while both K14 and K5 promoters were active in all tested cell lines.
8 citations
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September 2021 in “EMBO Molecular Medicine” This study found that a 5-mer peptide called P5 promotes hair growth by activating adiponectin receptor 1, suggesting its potential use as a topical treatment for alopecia.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
119 citations
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September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.
4 citations
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May 2025 in “npj Parkinson s Disease” This study identified peripheral myeloid cells as the earliest dysregulated immune cells in PINK1 KO mice with Parkinson’s-like symptoms following intestinal infections, suggesting that PINK1 regulates gut immune functions linked to early Parkinson’s disease mechanisms.
17 citations
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April 2011 in “Journal of Dermatological Science” This study reports that the transgenic expression of Dsg1 in mice rescued the severe B6-Dsg3−/− phenotype and created a syngeneic mouse model of pemphigus vulgaris, which may aid in understanding autoimmunity mechanisms.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” This study found that prostaglandin D2 increases testosterone production in human keratinocytes through a mechanism involving ROS and REDOX potential, which could inform treatments for androgenic alopecia.
36 citations
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October 2015 in “Cell reports” In this study, researchers found that Gab1 is critical in controlling the hair cycle and the self-renewal of hair follicle stem cells in mice.
99 citations
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January 2004 in “Journal of Biological Chemistry” This study found that methylprednisolone can block IgG-induced keratinocyte detachment in an animal model of pemphigus vulgaris, potentially by increasing the synthesis and modifying adhesion molecules.
9 citations
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August 2014 in “European journal of ophthalmology” This study found that PGF 2α receptors were predominantly present in the inner root sheath of the bulb and stem of human eyelashes during the anagen phase.
7 citations
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August 2017 in “PloS one” This study found that NIH hairless mice exhibit abnormalities in hair growth and immune-related pathways, with Pik3r1 and Pik3r3 identified as key genes for further investigation.
April 2023 in “Journal of Investigative Dermatology” This study suggests that the CsA-induced inactivation of the CaN/NFAT pathway may suppress TGF-β2 expression in dermal papilla cells, potentially contributing to CsA-associated hypertrichosis.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
January 2020 in “ScholarWorks (Central Washington University)” This study suggests that NAG-1 overexpression may prevent some metabolic dysfunctions linked to polycystic ovary syndrome in a mouse model.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
19 citations
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May 2001 in “Endocrinology” This study suggests that Mrp3 may play a role in both wound healing and the hair follicle cycle as a growth factor and/or angiogenesis factor.
20 citations
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October 2008 in “Archives of dermatological research” This study found that angiogenin is expressed in human dermal papilla cells, where it might stimulate hair growth by promoting cell proliferation and local skin angiogenesis.
1 citations
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July 2019 in “Small ruminant research” This study suggests that the NGF/TrkA/CREB system plays a crucial role in promoting outer root sheath cell proliferation in cashmere goats, which may aid in marker-assisted breeding.
38 citations
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March 1997 in “Journal of interferon & cytokine research” This study suggests that IL-1β produced by dermal papilla cells, regulated by protein kinase C, may inhibit human hair follicle growth through paracrine signaling.
16 citations
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October 1987 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that a topical vitamin D3 analogue had an anti-proliferative effect on guinea pig skin epidermis.
70 citations
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December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
11 citations
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May 2016 in “Naunyn-Schmiedeberg's Archives of Pharmacology” This study found that 15-dPGJ2 promotes apoptosis in human follicular keratinocytes, suggesting its potential role in developing hair loss prevention treatments through DP2 antagonism.
April 2026 in “Frontiers in Cell and Developmental Biology” This study found that PGRP-S expression in mouse epidermis is specific to certain hair follicle epithelia, depending on the skin region, and can be transiently induced in flank skin hair follicle epithelium after exposure to Staphylococcus aureus, suggesting a role in environmental surveillance.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.