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This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.

In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.

This abstract contains fragmented and promotional text about various topics, including Hondrostrong and unrelated products, without presenting any new research findings.

This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.

In this study, canine hair follicle stem cells were shown to be multipotent, capable of differentiating into various cell types like adipocytes in vitro.

CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.

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.

In this retrospective study, combining TACE with Donafenib showed promising results as a first-line treatment for Chinese patients with unresectable hepatocellular carcinoma, yielding a median progression-free survival of 12.8 months and a one-year overall survival rate of 87.5%, along with a favorable safety profile.

In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.

This study found that β-catenin is essential for hair follicle stem cell proliferation and may regulate this process through the PI3K/Akt pathway, suggesting its potential as a therapeutic target.

This study suggests that the mechanical robustness of hair may be enhanced by the binding interactions of keratin-associated proteins, particularly KAP8.1, with intermediate filament proteins.

This case study of a subfertile couple highlighted the importance of considering haemochromatosis, particularly involving the C282Y mutation of the HFE gene, in patients with endocrine disorders linked to hypogonadism.

This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.

This article provides guidelines and indices for a three-point cantilever bending test to measure mechanical properties of hair treated with both conventional and naturally-derived styling polymers, reporting no new experimental results.

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.

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 found that gender, puberty, and BMI significantly affect hair cortisol concentrations in children, suggesting these factors should be considered in future research.

Human hair follicles have their own thyroid hormone system.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

This review covers the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to P450c21, but it reports no new clinical results.

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 study developed a novel treatment method using carbon dots from Cinnamomum burmannii leaves, which improved hair regeneration and thickness in an AGA mouse model by promoting cell proliferation, angiogenesis, and reducing inflammation through multiple signaling pathways.

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.

This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.

This study reports that some human cell surface HLA-I molecules (including HLA-B27) can appear without their usual peptide component, potentially altering immune interactions, influencing arthritis development in specific mice models, and exhibiting upregulation in certain cancer cells.

In this case report, a 36-year-old patient undergoing secukinumab treatment for psoriasis experienced both hepatitis B reactivation and hair discoloration, suggesting a potential link between these effects, though further studies are needed to understand this relationship.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This study suggests that hair cortisol concentration may not reliably indicate psychological distress or differentiate clinical from non-clinical populations, as observed in a female PhD student over nine years.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.