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In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.

In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.

This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.

This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.

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.

This study found that the co-ablation of C/EBPalpha and C/EBPbeta in adult mouse skin disrupted sebocyte differentiation and epidermal homeostasis, highlighting their critical roles in these processes.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

This study concluded that GLCAT14A-C genes are crucial for the function of glucuronic acid transfer to AGPs in Arabidopsis, affecting various growth and reproductive traits such as seed germination and root hair growth.

A certain gene variation can affect protein production and is linked to male pattern baldness.

This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.

This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.

This study identified UBC22 as a novel E2 enzyme responsible for Lys11-linked ubiquitination in Arabidopsis, revealing its crucial roles in seed setting, female gametophyte development, and pathogen resistance.

This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

This study found that loss of the ACER1 gene in mice led to increased ceramide levels and progressive hair loss, highlighting ACER1's role in maintaining hair follicle stem cell homeostasis.

GNPTAB gene is crucial for normal hair color in humans and mice.

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.

This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.

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.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

This review discusses the acyl-CoA synthetase very-long-chain (ACSVL) enzyme family, including its biochemical characteristics, tissue expression, and involvement in lipid metabolism, but presents no new experimental results.

This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.

In this study, inducible whole-body Acly-knockout mice revealed that ACLY is essential for skin homeostasis, as its deficiency led to increased sebum production and skin abnormalities, indicating a vital role for cytosolic acetyl-CoA synthesis in preserving skin barrier integrity and systemic lipid regulation.

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.

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.

This study found that the protein Formin 2 helps regulate cell-to-cell transport in thale cress by stabilizing actin filaments at plasmodesmata, with its absence leading to increased permeability and vulnerability to viral infections.

CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.