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In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.

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 study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

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.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

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

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

In this study, the researchers observed that the severity of capecitabine-induced hand-foot syndrome in advanced gastric cancer patients was not linked to the IVS14+1G→A mutation in the DPYD gene.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

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 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 found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

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 identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

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 identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.