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This study found that distinct glycoconjugate expression patterns in human hair follicle cells suggest complex carbohydrate metabolism, revealing a unique sugar moiety in outer root sheath cells not present in other keratinocytes.

This chapter discusses various aspects of collagen, proposing "extended collagen carential disease" as a new concept tied to nutritional deficiencies, notably Vitamin C's role in maintaining collagen health.

This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.

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.

In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.

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.

This study found that keratin 19, unlike keratin 14, forms less stable filaments with keratin 5, suggesting distinct assembly properties and potential unique roles in skin basal cells.

This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.

This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

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

This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.

This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.

This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.

This review explores the physiological roles of collagen XVII in the epidermis, its involvement in stem cell maintenance, and its connections with signaling pathways, but it reports no new results.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

This study found that regio-specific hydroxylation of cyclosporine A in Sebekia benihana is mediated by the cytochrome P450 hydroxylase CYP-sb21, suggesting potential biotechnological applications for hair growth promotion without immunosuppressive effects.

This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.

This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

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

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 study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.