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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.

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

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 abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.

This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.

This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

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 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 reported that the PrrH sRNA in *Pseudomonas aeruginosa* may directly regulate genes involved in pyochelin siderophore biosynthesis, highlighting its role in adapting to heme availability, with light conditions influencing this gene expression.

Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.

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.

This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.

The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.

This study found that depletion of KRT17 in endometrial cancer reduced cell growth, motility, and angiogenesis, suggesting KRT17 as a potential therapeutic target.

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.

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.

This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.

This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.

This study found that colorectal cancer patients could be categorized into two groups based on mitochondrial-related gene features, with distinct survival outcomes and tumor microenvironment characteristics, suggesting these features could inform individualized treatment plans.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.

This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.

This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.

This study found that in psoriasis patients, the K17 protein probably functions as an autoantigen, with the HLA-Cw*06:02 risk genotype strongly linked to the T cell response size.

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