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This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.

This article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.

This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.

This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.

This study found that specific mutations in the spike protein of SARS-CoV-2 may significantly alter its structure and affect how it binds to certain inhibitors, but experimental studies are needed to confirm potential clinical implications.

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.

This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.

A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.

A specific gene mutation causes sparse, brittle hair in a family.

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 case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.

In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.

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.

This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.

This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.

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.

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

In this study, the researchers found no significant link between CAG repeat numbers in the androgen receptor gene and female pattern hair loss in a Chinese population.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.