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This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

Defective protein folding due to a mutation is key in ANE syndrome.

This study presents an improved reference genome for the African spiny mouse, which may aid in understanding its tissue regeneration at the molecular level.

This study suggests that subtle modifications in ribosomal RNA methylation may influence cellular physiology and contribute to ribosome specialization in senescent human dermal fibroblasts.

Two studies in Cell Stem Cell reported that human and mouse somatic cells can be reprogrammed into induced pluripotent stem cells using microRNAs, eliminating the need for ectopic protein expression.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

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.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.

This study found that Musashi-2 regulates mRNA targets to restrict epithelial cell migration, revealing a key function of Msi2 beyond its known role in promoting cell growth.

This study developed an improved reference genome for the African spiny mouse using long Nanopore sequencing reads, potentially aiding future research into the species' remarkable tissue regeneration capabilities.

This study investigated adenosine-to-inosine RNA editing in the hair follicle cycle of Tianzhu white yak, identifying numerous editing sites and suggesting their involvement in pathways related to hair growth.

This study shows that ZIP7 is a functional zinc transporter in mammalian cells, facilitating the movement of zinc from the Golgi apparatus to the cytoplasm.

In this study, researchers developed ionizable coenzyme Q10-engineered lipid/fiber microplexes that restored mitochondrial-ribosomal function and enhanced mRNA translation in senescent cells, leading to increased hair follicle density and bone formation in mouse models compared to conventional lipid nanoparticles.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.

In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This review discusses the roles and mechanisms of chromatin remodelers and their subunits in mammalian development, but reports no new experimental results.

This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.

This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.