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This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.

This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

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 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 report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

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.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

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.

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

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

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.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

This study presents a hypothesis that the EDAR V370A allele was positively selected in East Asian populations due to the stable aquatic resources in Late Pleistocene northern China, which may have offset the allele's metabolic costs and provided a selective advantage.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.