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Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

This study found that Twist1 and Tcf4 synergistically regulate the hair follicle induction ability of dermal papilla cells by forming a complex with β-catenin, enhancing their biological properties.

This study found that overexpressing the PML protein in transgenic mice decreased skin tumor occurrence and delayed their progression, highlighting PML's potential role in influencing keratinocyte growth and differentiation.

This study suggests that dsRNA may enhance KRT9 expression in palm and sole skin through β-catenin signaling, potentially linking mechanical damage to specific skin features and certain skin conditions.

This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.

This study, using a reporter mouse line, characterized diverse subtypes of dopaminergic neurons in the enteric nervous system, identifying unique subtypes with potential roles in gut function and disease.

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.

This study concluded that TNFRSF1B is a potential pathogenic factor in androgenetic alopecia, suggesting it as a novel therapeutic target.

This study reports that transgenic mice carrying Clone B DNA developed spontaneous melanomas likely due to an interruption in genes regulating cell growth in melanin-producing cells, offering a model for melanoma research.

This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.

Noggin promotes skin tumors by activating certain cell signaling pathways.

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 suggests that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in bulge stem cells during post-natal development in mice.

This study found that matrix progenitor cells in hair follicles move in a conveyor-belt-like fashion along the dermal papilla, changing their transcriptional states and lineage potential as they differentiate into inner hair follicle layers.

This study identified TSC2 as an important regulator of hair follicle morphogenesis and patterning, with Tsc2cKO mice showing altered hair patterns and frequencies compared to controls.

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 study suggests that elevated DKK1 expression, influenced by promoter methylation, is a significant prognostic biomarker for patients with head and neck squamous cell carcinoma.

This study observed that cathepsin L and transglutaminase 3 colocalize in the human hair bulb and nail matrix, suggesting their involvement in terminal differentiation within these epidermal appendages.

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.

The researchers reported that DHT-inducible DKK-1 may play a significant role in DHT-driven balding by inhibiting hair follicle cell growth and promoting apoptosis in androgenetic alopecia.

This study found that miRNA biogenesis, facilitated by Dicer and Drosha, is crucial for adult hair follicles' growth and regeneration, highlighting their multiple roles during the hair follicle growth cycle.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.

This research discusses a zebrafish model showing that nicastrin deficiency leads to tyrosinase-dependent depigmentation and melanophore cell death, suggesting implications for studying skin depigmentation disorders.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.