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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 case report describes a 16-year-old boy who developed male androgenetic alopecia with a sisaipho pattern, possibly representing a rare, wave-like evolution of alopecia areata.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.

This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.

This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.

This study suggests that tissue transglutaminase (TG2) may play a role in sebum production by regulating autophagy in sebaceous glands, offering potential targets for dermatological interventions.

This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.

This study found that circ 0020938 suppresses hair follicle stem cell proliferation by interacting with the miR-142-5p/DSG4 axis, which aids in the hair follicle cycle's proper progression.

This study reports that in a rat model of myocardial infarction, Zn-Cu ion sequential therapy improved cardiac function and cardiomyocyte metabolic activity by precisely regulating ion concentrations and maintaining elevated levels of the Per2 protein, important for cellular repair.

This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.

This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

In this study, Ishige sinicola extract was observed to improve bone density and structure in an animal model of estrogen deficiency-induced osteoporosis, suggesting its potential as a therapeutic option for postmenopausal osteoporosis by inhibiting osteoclast formation without cytotoxic effects.

This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.

This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.

This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.