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This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.

In this study, researchers identified five unique sequences of the ovine KAP13-3 gene, with potential implications for wool traits due to observed amino acid changes.

This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.

This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.

This study found that the administration of the mutant BRAF inhibitor dabrafenib in patients with metastatic melanoma was associated with various skin lesions, including keratinocytic proliferation that sometimes showed low-grade malignancy features.

In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.

This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.

This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.

This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.

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 reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.

Keratin mutations cause skin diseases and could lead to new treatments.

This study found that rapamycin effectively inhibits TPA-induced keratinocyte proliferation and skin tumor promotion by targeting mTORC1 signaling in both wild-type and transgenic mice.

This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

In this study, transgenic mice with active BMPR1A signaling in the epidermis had impaired hair follicle morphogenesis and showed age-related hair loss, implicating BMP signaling in hair follicle development and homeostasis.

Some people have a genetic variation that makes them less effective at breaking down drugs.

This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.

This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.

This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.