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In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.

This study found that mutations in the hairless gene disrupt normal hair follicle development by impairing Wnt/β-catenin signaling, affecting hair keratinocyte differentiation in both mice and humans.

This study found that in hairpoor mice, disruptions in hair follicle stem cell quiescence and signaling pathways lead to disturbed hair cycles, which may help explain alopecia development in Marie-Unna Hypotrichosis patients.

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.

This study suggests that the down-regulation of 14-3-3 proteins in wild-type keratinocytes, absent in Smad4 mutant keratinocytes, might contribute to the failure of hair follicles to initiate catagen in Smad4 knockout mice.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.

This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

This study suggested that differences in hair follicle development, indicated by the frequency of underdeveloped hairs, significantly contribute to the variation in hair loss severity among Japanese individuals with the LIPH c.736T>A mutation.

This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

This study found that mutant cells in hair follicles can be tolerated or eliminated by surrounding normal tissue, suggesting the potential for wild-type cells to counteract oncogenic mutations.

This review summarizes studies on knockout mouse models revealing abnormalities in skin and hair follicle development but reports no new experimental results; the authors highlight the utility of these models for understanding hereditary skin disorders.

This study successfully created a mouse model with conditional knockout of the p75 neurotrophin receptor gene in epidermis cells, with no significant changes in skin histomorphology observed.

This study found that human skin melanocytes with low mutation burdens are smaller, less dendritic, and exhibit stem-like features, often residing in UV-protected hair follicles, suggesting their role in replenishing sun-damaged epidermis.

This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.

This study found that Gsdma3 mutations in mice led to thicker skin and longer hair infundibula, possibly by negatively regulating β-catenin expression in the epidermis.

This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

This study suggests that canonical BMP signaling, particularly involving Smad1 and Smad5, plays a critical role in hair follicle stem cell regulation and hair morphogenesis, with distinct roles from pSmad8.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.