16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
September 2017 in “Journal of Investigative Dermatology” This study found that the expression levels of Siah1 and Siah2 in mice skin vary dynamically during postnatal hair follicle development, suggesting their specific roles in modulating the HIF pathway.
37 citations
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February 2005 in “Journal of Investigative Dermatology” This research suggests that defects in keratinocyte differentiation due to putrescine accumulation in SSAT transgenic mice lead to skin changes and hair loss, and reducing putrescine can promote hair regrowth.
March 2021 in “Research Square (Research Square)” This study found that overexpression of the SbbHLH85 gene in sweet sorghum increases root hair growth and Na+ absorption, but negatively affects salt tolerance.
29 citations
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July 2014 in “PloS one” In this study, Meis1 was found to regulate epidermal homeostasis and act as a proto-oncogenic factor in skin tissues, with differences in expression patterns between normal and tumor cells.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study demonstrated that both DKK2 and SOSTDC1 are necessary for normal timing of the first catagen phase in mice hair growth cycles.
10 citations
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September 2022 in “Cellular and Molecular Life Sciences” This review discusses the roles of the transcription factor SOX9 in organ development and maintenance, providing insights into its regulation and diverse functions, but reports no new experimental results.
16 citations
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March 2017 in “Oncotarget” This study suggests that SOCS3 treatment may effectively inhibit alopecia areata by suppressing CD8+ T cell activity and IFN-γ production.
June 2018 in “Surgical Case Reports” S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.
28 citations
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February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
18 citations
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June 2018 in “Journal of Dental Research” This study found that during amelogenesis in Msx2 null mice, a dysfunctional enamel organ developed due to abnormal epithelial transformation and lacked proper enamel formation.
54 citations
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February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
6 citations
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December 2019 in “Frontiers in genetics” In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
1 citations
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October 2017 in “Circulation” The researchers reported that introduction of SOX9 in ischemic heart tissues is linked to cardiac fibrosis, marking it as a potential target for future therapeutic strategies.
December 2014 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” In this study, researchers found that overexpressing SOX2 in colorectal cancer cell lines can cause DNA damage and cell death, while repressing it reduces tumor growth and cell aggressiveness.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
July 2024 in “Journal of Investigative Dermatology” The new skin organoid system effectively mimics human skin for studying its functions, injuries, and diseases.
2 citations
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April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
September 2024 in “Pigment Cell & Melanoma Research” This study found that mitochondrial fusion regulator Opa1 is crucial for maintaining melanocyte stem cells during the hair follicle cycle in mice, with Opa1 deficiency leading to impaired SCF-KIT signaling, reduced melanocyte populations, and early hair graying.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.