July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
11 citations
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February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
16 citations
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December 2006 in “Chinese Medical Journal” This case report describes a 12-year-old boy with congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis, highlighting the severe complications and the necessity for early intervention.
6 citations
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December 2021 in “Scientific Reports” This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.
11 citations
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July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that depleting HIF-P4H-2 in FoxD1-lineage cells in mice led to disrupted hair follicle development, resulting in truncal alopecia but normal cranial hair, suggesting its crucial role in hair homeostasis.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that AP-2α and AP-2β are critical for maintaining epidermal homeostasis in adult skin, with their combined loss leading to severe skin and hair abnormalities and early skin inflammation due to impaired keratinocyte differentiation.
31 citations
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July 2012 in “Journal of Lipid Research” This study found that the acyl-CoA binding protein is essential for the production of very long chain free fatty acids in the stratum corneum and maintaining normal epidermal barrier function in mice.
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.
16 citations
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September 2006 in “The Journal of Immunology” This study identified that mouse MILL1 and MILL2 are glycoproteins distinct from human MICA/B, primarily due to their association with β2-microglobulin and TAP-independent surface expression.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
21 citations
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March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that 6.1% of new patients seeking PRP therapy for hair loss had undiagnosed cicatricial alopecia, highlighting the importance of proper diagnosis by trained dermatologists to optimize treatment outcomes.
65 citations
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December 2010 in “Current Pharmaceutical Biotechnology” This review explores the diverse roles of TRPV1, emphasizing its involvement in both pain and non-pain-related functions, but reports no new clinical results.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
3 citations
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April 2019 in “Stem cells international” This study found that CRABP1, Nestin, and Ephrin B2 are expressed in both the tumor stroma and invasive front of skin adnexal tumors and basal cell carcinomas.
10 citations
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October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” This study developed rat monoclonal antibodies that specifically detect Pax1/PAX1 protein, which could improve diagnostic protocols for conditions involving deregulated Pax1/PAX1 expression.
February 2026 in “Advanced Science” This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.
477 citations
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March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
11 citations
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June 2019 in “Tissue & Cell” This study indicates that COL17A1 plays a crucial role in the differentiation process of hair-follicle-associated pluripotent stem cells.
88 citations
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August 2014 in “PLOS genetics” This study found that mice lacking syndecan-1 experienced cold stress and metabolic issues due to reduced intradermal fat, which was restored by thermoneutral housing or rosiglitazone treatment.
March 1998 in “Journal of dermatological science” Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
This study observed that the development of the pars intermedia in long-tailed macaques is closely associated with changes in skin pigmentation during pre- and postnatal periods through melanocyte-stimulating hormone and ACTH activity.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that CD200R expression is significantly reduced in an experimental mouse model of scarring alopecia, suggesting a potential role for this pathway in immune regulation and hair follicle protection.
April 1996 in “Journal of Dermatological Science” 74 citations
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September 2003 in “The Journal of Immunology” This study found that PKCα activation in transgenic mice induces keratinocyte apoptosis and mediates neutrophilic skin inflammation via different pathways, suggesting potential mechanisms for cutaneous inflammatory diseases.
April 2019 in “Journal of Investigative Dermatology” This study found that BRG1 is crucial for keratinocyte migration during skin wound healing, as its suppression impairs wound closure by inhibiting migration without affecting cell proliferation or apoptosis.