January 2017 in “Murdoch Research Repository (Murdoch University)” This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
8 citations
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March 2015 in “International Journal of Oncology” This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.
April 2018 in “Journal of Investigative Dermatology” This study found that desmosomal cadherin desmoglein 3 loses its rigidity upon Ca2+ removal, regardless of desmosome functional state, suggesting a central role for signaling in hyper-adhesion.
July 2026 in “Journal of Investigative Dermatology”
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.
8 citations
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August 2022 in “BMC Veterinary Research” This study found that C57BL/6 mice and Sprague–Dawley rats show distinct distributions of eccrine sweat glands and hair follicles in their volar skin, suggesting these models should be selected according to research focus on skin appendages.
48 citations
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January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
1 citations
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January 2025 in “Therapeutic Advances in Drug Safety” This case report highlights the rare overlap of DRESS and Stevens-Johnson syndrome following antituberculosis treatment, emphasizing the critical importance of timely diagnosis and intervention to manage severe symptoms and prevent organ damage.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
March 2019 in “Journal of Investigative Dermatology” This review discusses a quiz related to seborrheic dermatitis diagnosis and key findings from a previous study, but reports no new clinical results.
197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
April 2020 in “Journal of the Endocrine Society” In this case study, the use of somatostatin analogues was effective in localizing and confirming a neuroendocrine lung tumor as the source of ectopic ACTH syndrome, leading to marked clinical improvement in a patient unable to undergo surgery.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
35 citations
,
August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
3 citations
,
January 2019 in “Journal of Dermatology” This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
5 citations
,
May 2017 in “Journal of dermatological science” This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.
6 citations
,
April 1990 in “The Journal of Dermatologic Surgery and Oncology” Dermatologic surgery has greatly improved with new techniques over the years.
67 citations
,
December 2013 in “Journal of Biological Chemistry” This review discusses the role of the enzyme Δ9-desaturase-1 in skin lipid regulation and whole-body energy balance in mice and reports no new experimental results.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
In this study, exosome-loaded hydrogels derived from skin precursor cells significantly improved wound healing in diabetic rats by enhancing angiogenesis, reducing inflammation, and promoting tissue repair.
February 2018 in “Egyptian Journal of Radiation Sciences and Applications” This study observed that Egyptian patients with discoid lupus erythematosus have significantly lower serum vitamin D3 and antioxidant levels compared to healthy controls, suggesting potential benefits of vitamin D3 and antioxidant supplementation.
April 2023 in “Journal of Investigative Dermatology” This study found variation in erythema induction across skin types, suggesting different SSR dose responses and highlighting a potential model for tailoring anti-inflammatory treatments.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
11 citations
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July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
33 citations
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December 2005 in “British Journal of Clinical Pharmacology” This study found that the Transdermal Delivery System efficiently delivers testosterone systemically and showed bioequivalent hormone concentrations to a known topical gel in healthy males.