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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.

This study demonstrates that the transcription factor DLX5 can promote hair follicle stem cell differentiation through regulating the c-MYC/miR-29c-3p/NSD1 axis.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

In this study, researchers found that overexpressing SOX2 in colorectal cancer cell lines can cause DNA damage and cell death, while repressing it reduces tumor growth and cell aggressiveness.

This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.

In this case report, a 9-year-old boy with Sjogren-Larsson syndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.

This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.

This study found that in mice, LSD1 interacting with HSP90 accelerates skin wound healing by enhancing HFSC glycolytic metabolism, proliferation, and differentiation via the c-MYC/LDHA axis.

This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.

This study demonstrated that the FER/MLO signaling module regulates calcium dynamics and ROS accumulation in root hair growth, with the constitutively active MLO (faNTA) able to restore normal development and signaling in specific mutant genotypes, highlighting MLO15's role in root hair tip growth regulation.

This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.

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 study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.

This study developed the TLMG hydrogel, a seamless in situ biointerface platform, demonstrating robust adhesion, high conductivity, and therapeutic effects for intelligent wound management in complex animal models and human tests, indicating its promise for integrated bioelectronic medicine.

This study found that in mouse skin, the activation of stem/progenitor cells is synchronized across different niches during growth, with the glutamate transporter SLC1A3 playing a crucial role in this process.

This study developed effervescent cleansing tablets containing asiatic-acid-loaded solid lipid microparticles, finding that they provided effective cleansing compared to water and showed good flow properties, pH, and hardness but were unstable at high temperature and humidity.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study found that the signaling peptide CLE40 and receptor proteins CLV2 and CRN regulate root meristem differentiation through two distinct, antagonistic pathways activated by CLE40 in a dose-dependent manner.

Several companies launched new hair care ingredients in 2011 to improve conditioning, color retention, combability, and heat protection.

This study found that the genes MYLK and CALD1 were expressed at lower levels in bladder cancer and osteosarcoma tissues compared to normal tissues, and their expression levels appeared to correlate with poorer survival outcomes, suggesting they may be important in disease progression and prognosis.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.

This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

The researchers reported that during early embryogenesis and larval development in Silurana tropicalis, inhibiting steroidogenic enzymes cyp19 and srd5beta affects genes related to thyroid and reproductive systems.

This study established a new reverse-phase high-performance liquid chromatography method to accurately and precisely quantify silodosin and dutasteride in mixtures, meeting International Council of Harmonization validation criteria for stability, sensitivity, and recovery.