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This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.

This study suggests that although the G972R variant of the IRS1 gene might increase AA excess risk in heterozygous carriers with CYP21 mutations, both variations play a limited role in PCOS development.

This study found that specific SHBG gene variants, rs727428 and rs6259, were associated with PCOS in Mediterranean women, although the associations were relatively weak and do not indicate a causative role.

This study reviewed 40 patients with scalp symptoms and identified a new variant of diffuse lichen planopilaris in 20 individuals, suggesting these conditions should be considered in similar cases.

This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.

This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.

This study found no significant association between selected gene variants and female pattern hair loss, suggesting these genes might not be involved in its development.

This study found that genetically variant peptides from human hair can reliably identify individuals despite differences in age and storage conditions, provided environmental and processing factors are controlled.

This study found that a specific variant in hair keratin was present mainly in Caucasian samples, with few exceptions showing likely Caucasian admixture.

This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.

In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.

MC4R gene variants not linked to female hair loss.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.

This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

This study observed that COVID-19 patients in Thailand infected with the Delta variant were more likely to develop pneumonia and certain post-infection conditions, while Omicron infections were associated with milder symptoms like sore throat and congestion.

In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.

In this case report, a rare melanotrichoblastoma tumor was identified in a 51-year-old female following the histological and immunohistochemical analysis of a lesion on the pubo-inguinal area, presenting with strong epithelial marker positivity and a low proliferative index.

This case report reviews panfolliculoma, a rare benign follicular tumor, highlighting its occurrence and characteristics, and emphasizes the importance of accurate histopathological differentiation to avoid misdiagnosis.

This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.

This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.

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 case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.

This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.

This study identified the FGF5:c.578C>T variant as linked to long hair in Akitas in Japan and suggests that genetic testing could help improve their breeding practices and welfare.

This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.

This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.