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This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This study demonstrated that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments with different biophysical properties.

This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

This study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.

This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.

This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.

This study found that DVd therapy is at least as effective as VAD/VAd for treating multiple myeloma and causes fewer side effects and reduced hospital visits.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.

This study found that CD2 could be a potential new therapeutic target for treating patchy-type alopecia areata, suggesting the need for further research into its role.

This study found that the mitotic arrest deficient protein MAD2B negatively affects TCF4-induced growth and proliferation of dermal papilla cells, which are vital for hair follicle development.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

In this prospective phase II clinical trial, researchers are investigating whether adding dutasteride to combined androgen blockade can improve the response rate and clinical outcomes for patients with androgen receptor-positive recurrent or metastatic salivary duct carcinoma.

This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.

This study found that MAP-2 is intensely expressed in the companion layer of the hair follicle, suggesting its potential importance to follicle integrity and possible involvement in some types of alopecia.

This review discusses the multifunctional role of PKM2 in promoting cardiac repair and regeneration, highlighting its potential as a therapeutic target in cardiovascular medicine, but reports no new experimental results.

This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.

This study found that dimethylarsinic acid significantly accelerates skin tumor development in hair follicle-targeted K6/ODC transgenic mice.

CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

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.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This study found that KSR1 is essential for v-Ha-ras-mediated skin tumor formation in mice but not for MT-driven mammary tumor genesis, suggesting its potential as a therapeutic target in Ras/MAPK signaling.

This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.