9 citations
,
July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
6 citations
,
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.
5 citations
,
October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.
11 citations
,
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.
58 citations
,
July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
3 citations
,
April 2020 in “Clinical endocrinology and metabolism journal” This review discusses imaging's role in the diagnosis and management of congenital adrenal hyperplasia and reports no new clinical results; it suggests a potential presentation route via incidental radiologic findings.
49 citations
,
November 2013 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that 1,25-dihydroxyvitamin D3/VDR inhibits β-catenin's role in keratinocyte proliferation but enhances its role in hair follicle differentiation.
88 citations
,
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.
25 citations
,
July 2015 in “EMBO Reports” This study suggests that mouse lineage specification during pre-implantation development involves distinct timing and mechanisms for trophectoderm and inner cell mass differentiation, challenging existing models.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
9 citations
,
April 1999 in “Mammalian Genome” This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
60 citations
,
October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers used single-cell RNA sequencing to define and locate three distinct cell states of melanocytes in mouse skin development, potentially aiding the understanding of abnormal melanocyte differentiation.
April 2016 in “Journal of Investigative Dermatology” This study found that increasing En1 expression in mouse epidermis can convert cutaneous appendages to eccrine sweat glands, suggesting a role for En1 in eccrine gland development.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
96 citations
,
September 1996 in “PubMed” This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
August 2015 in “International Journal of Genetics and Molecular Biology” This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.
March 2026 in “Dermatopathology” This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.
15 citations
,
March 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that vitamin D receptor expression is associated with proliferating keratinocytes, while retinoid X receptor α is linked to differentiating keratinocytes, suggesting differential targeting by vitamin D metabolites.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
April 2026 in “Tissue Engineering and Regenerative Medicine” This study found that the GPRC6A-Duox1 signaling pathway influences hair cycle progression and testosterone-mediated hair loss in mice, suggesting that disruption of this pathway leads to resistance against testosterone-induced hair loss and longer anagen phase duration.
36 citations
,
March 2014 in “Cell death and differentiation” This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.
39 citations
,
July 1997 in “American Journal of Medical Genetics” This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
April 2021 in “Journal of Investigative Dermatology” This study developed a transgenic mouse model to explore androgenetic alopecia, finding that inducible COX2 expression led to sebaceous gland changes and hair miniaturization, with reversible effects upon reducing COX2.
42 citations
,
August 1999 in “The American journal of pathology” This study found that basal cell carcinomas show strong expression of vitamin D receptors at both mRNA and protein levels, suggesting a potential role in tumor growth regulation.
21 citations
,
July 2006 in “Veterinary dermatology” In this study, researchers reported that CD34 expression in the isthmic region of canine hair follicles suggests a potential stem cell compartment in this area.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers reported that Krox20 plays a crucial role in epidermal homeostasis and hair development, influencing stem cell maintenance and cell survival through the modulation of cellular pathways.
December 2024 in “International Journal of Molecular Sciences” This study observed that CXCL12 is highly co-expressed with androgen receptors in human hair follicle cells, and its inhibition via antibodies increased hair length, suggesting a potential treatment strategy for androgenic alopecia.