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This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.

This study found that simultaneous inactivation of pRb and p53 genes in mice's epidermis accelerates aggressive squamous cell carcinoma development, highlighting p53 as a key tumor suppressor.

A mutation in the KRT25 gene causes woolly hair and hair loss.

This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.

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

This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.

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.

Ets2 gene is crucial for placental development in mice.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

This study found that a gain-of-function mutation in the TRPV3 channel leads to altered hair development in DS-Nh mice by affecting the anagen and telogen phases, highlighting TRPV3's role in hair growth regulation.

In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

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

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

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.

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 study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.

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.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

In this study, researchers found that progesterone promotes breast tumor growth in mice through its metabolite 5αP, which can be blocked by the 5α-reductase inhibitor finasteride.

This study found that the simultaneous inactivation of pRb and p53 genes in mouse epidermis accelerated aggressive squamous cell carcinoma development via activation of the epidermal growth factor receptor/Akt pathway.

This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.

In vivo using the C3H mouse model, this study observed that BST2 expression occurs before hair loss in alopecia areata and is followed by an increase in epidermal γδ T cell numbers.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

This study found that activating the erbB-2 oncogene in transgenic mice led to severe skin abnormalities and fatal defects, indicating erbB-2's significant role in skin and hair follicle development.

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

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.