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This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This study concluded that two exemestane preparations are bioequivalent, using a high-performance liquid chromatographic mass spectrometric method to measure concentrations in human plasma.

This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.

This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.

In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.

In this review, the authors found that cannabinoids and steroid-related drugs show potential for treating Tourette syndrome, but existing evidence is limited and further research is needed to confirm their efficacy and safety.

This study reported that structure-guided engineering of CYP154C2 mutants significantly improved the 2α-hydroxylation of androstenedione and testosterone, with enhanced conversion efficiency and substrate selectivity compared to the wild-type enzyme.

This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.

This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.

This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.

In this study using mice and human keratinocyte cells, researchers found that activating PKM2-mediated glycolysis and Wnt/β-catenin signaling, particularly via combined treatments, significantly accelerated wound healing and induced angiogenesis in wound beds.

This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.

The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.

In this study, transgenic mice overexpressing the SSAT gene were highly sensitive to polyamine analogues, leading to severe liver changes and high mortality rates after treatment.

This study demonstrated that the antiandrogen drug enzalutamide may reduce TMPRSS2 levels in human lung cells and mouse lungs, supporting its potential as a COVID-19 treatment option.

This study found that midazolam improved PTSD-associated behavioral deficits in rats through its action on the TSPO, CBR, and neurosteroidogenesis pathways.

This case report describes a 32-year-old man who developed SCC of the common bile duct a year after receiving treatment for a malignant proliferating trichilemmal tumour on the scalp.

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.

This systematic review found that toluidine blue may be valuable for diagnosing and treating specific skin tumors in the context of Mohs micrographic surgery, though literature on its use is limited and mostly qualitative.

This study reports the first case of ovarian mature cystic teratoma linked to clinical virilization due to ectopic testosterone production, possibly from overexpression of the enzyme HSD17B5.

This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.

This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.

This study developed a multifunctional injectable hydrogel that effectively provided hemostasis and accelerated healing of infected skin wounds, demonstrating significant potential for clinical wound dressing applications.

This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

This study found no significant association between the MDR1 C3435T polymorphism and methotrexate responsiveness in rheumatoid arthritis patients.

Hair follicle samples effectively show how well the drug MK-0752 targets and engages with the Notch pathway.

This study found that steroid sulfatase in the dermal papilla of hair follicles metabolizes dehydroepiandrosterone sulfate to support the development of androgenetic alopecia, suggesting potential for steroid sulfatase inhibitors as treatments.

This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.

This study identified TSC2 as an important regulator of hair follicle morphogenesis and patterning, with Tsc2cKO mice showing altered hair patterns and frequencies compared to controls.