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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 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.

This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.

This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.

This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.

This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.

This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.

This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.

This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.

In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.

This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

LIPH mutations cause woolly hair in some Chinese people.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.

This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

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 case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.