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This study found that shorter GGN repeat lengths (≤23) in the androgen receptor gene are associated with androgenetic alopecia among Chinese males, whereas two specific SNPs studied were not present in this population.

This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.

This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.

This study suggests that altered levels of NRF2 may be important in the development of androgenetic alopecia in men.

This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.

This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.

This study found that NLRP1 in human melanoma cells promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity.

This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.

A specific gene mutation causes severe skin and nail issues and hair loss.

This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.

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 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.

Niacin deficiency makes rats more sensitive to cancer-causing chemicals.

In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.

This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.

This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

This study concluded that TNFRSF1B is a potential pathogenic factor in androgenetic alopecia, suggesting it as a novel therapeutic target.