29 citations
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June 2015 in “Kidney International” This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
38 citations
,
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.
18 citations
,
February 1992 in “Molecular Biology Reports” This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
41 citations
,
December 1988 in “Journal of Investigative Dermatology” 12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
13 citations
,
July 2019 in “PLoS ONE” This study found that deleting podoplanin in mouse keratinocytes promoted hair follicle growth during regeneration, suggesting it may regulate hair cycling pathways that could aid in treating hair loss conditions.
This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
February 2024 in “Journal of Investigative Dermatology” In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.
November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” In this study, the pi4kβ1β2 double mutant in Arabidopsis thaliana exhibited altered root growth, increased susceptibility to Blumeria graminis, and a potential correlation between PI4K activity and auxin response and immunity due to changes in vesicular trafficking and actin filaments.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
4 citations
,
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.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
47 citations
,
February 2014 in “Journal of Cutaneous Pathology” This study found that nuclear beta-catenin, LEF1, and PHLDA1 expression was conserved in matrical tumors, suggesting a shared tumorigenesis process involving Wnt pathway activation.
5 citations
,
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.
38 citations
,
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.
4 citations
,
August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
91 citations
,
May 2003 in “American Journal of Pathology” This study found that prolactin and its receptor are expressed in the murine hair follicle epithelium, influencing hair cycle phases by down-regulating keratinocyte proliferation during anagen and inducing premature catagen.
10 citations
,
July 2015 in “Journal of Cosmetic Dermatology” This study found elevated tissue levels of DKK-1 in patients with both androgenetic alopecia and alopecia areata compared to controls, suggesting DKK-1 as a potential therapeutic target for these conditions.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The KDM1 gene helps Venus flytraps close by managing potassium ions.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
6 citations
,
March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
January 2024 in “Animals” This study suggests that the transcription factors SP1 and KROX20 regulate CUX1 gene's effect on the proliferation of ovine dermal papilla cells in vitro.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
5 citations
,
July 2014 in “Molecular Biology Reports” 39 citations
,
April 2019 in “The journal of immunology/The Journal of immunology” This study found that Malt1, particularly its protease activity, plays a crucial role in maintaining Treg cell function and homeostasis, with its inactivation leading to autoimmune diseases and altered immune responses in mice.
6 citations
,
April 2010 in “Cellular Reprogramming” The study characterized the transcriptional changes in porcine SKP cells transitioning to fibroblast-like cells, indicating potential roles for specific signaling pathways in this cell fate transition.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that cannabinoid receptor type 1 may influence psoriasis development by modulating laminin-511 expression, suggesting a potential target for treatment.