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This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.

This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.

HDAC1 is crucial for skin development and preventing tumors.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study observed dynamic behaviors such as cluster formation, migration, and active proliferation of transplanted bone marrow cells in a mouse model, providing insight into cellular-level changes post-transplantation.

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.

In this study, researchers found that BST2 expression is significantly upregulated in skin sections of mice with alopecia areata, implicating BST2's role in the disease pathogenesis through the action of epidermal γδ T cells and macrophages.

This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.

This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.

This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.

This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.

This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.

In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.

This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.

In this study of mouse embryos, the researchers found that the expression of the Lhx2 gene plays a significant role in wound healing and may promote scar formation in later stages of development.

This study found that the expression levels of Siah1 and Siah2 in mice skin vary dynamically during postnatal hair follicle development, suggesting their specific roles in modulating the HIF pathway.

GLI2 activates GLI1, promoting skin tumor growth and hair development.

This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.

In this study, treatment with recombinant DKK2 was shown to significantly stimulate hair progenitor cell growth and enhance hair shaft elongation in ex vivo human hair follicle cultures by activating the Wnt/ẞ-catenin signaling pathway, suggesting a potential role for DKK2 in promoting hair growth.

This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.

This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.