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This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

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 suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

A new mutation in the HR gene causes hair loss in a specific family.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.

This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.

This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

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 study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.

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

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

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 study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.