6 citations
,
January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
6 citations
,
September 2024 in “Frontiers in Physiology” This study found that overexpression of R-spondin 3 in a mice model impaired hair morphogenesis and regeneration by reducing hair matrix progenitor cell proliferation, thus disrupting the Wnt pathway's regulation of stem cells.
5 citations
,
October 2020 in “Frontiers in Cell and Developmental Biology” This study found that the trichogenicity of cultured human outer root sheath follicular keratinocytes decreased with longer cultivation periods and was significantly influenced by the expression of the transcription factor FOXA2.
16 citations
,
October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
19 citations
,
April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
June 1996 in “Journal of Dermatological Science”
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
48 citations
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January 2003 in “Fertility and Sterility” In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.
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.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
58 citations
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June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers analyzed the skin transcriptomes of Jiangnan cashmere goats and Changthangi pashmina goats, identifying 4,942 differentially expressed genes involved in pathways affecting cashmere quality, which could inform future genetic improvements in cashmere goat breeding.
117 citations
,
August 1999 in “Nature Genetics”
24 citations
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November 2023 in “Nature” In this study, researchers demonstrated that the expression of the oncogene SmoM2 leads to basal cell carcinoma in the ear epidermis of mice but not in the back skin, with differences in susceptibility linked to the composition of the extracellular matrix.
January 2025 in “Genetics in Medicine Open” In this case report, a 33-year-old male with symptoms resembling Neuromyelitis Optica was treated with 10 mg biotin daily, which may reverse certain ophthalmologic and myelopathy findings. The researchers emphasize the need for further research on biotinidase deficiency in patients misdiagnosed with similar conditions.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
47 citations
,
November 2012 in “Expert Opinion on Therapeutic Patents” The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, Dodatek A operationalizes the Functional Androgen Axis framework by defining three system-level indices and an efficiency metric to describe androgen function, incorporating key methodological improvements and acknowledging significant limitations for future empirical validation.
January 2011 in “Linchuang pifuke zazhi”
22 citations
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January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
13 citations
,
November 2005 in “Endocrinology” This study explored the secretion and cellular localization of different forms of follistatin and FST-like-3, revealing variable secretion kinetics and possible intracellular roles, particularly for nuclear FSTL3.
51 citations
,
December 2006 in “Mammalian Genome”
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
March 1990 in “Journal of Dermatological Science” April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
14 citations
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April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
23 citations
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July 2020 in “BMC Genomics” This study identified a stable combination of house-keeping genes, NCBP3 + SDHA + PTPRA, for normalizing gene expression in goat skin tissues using RNA sequencing.