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This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.

This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.

This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.

In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.

Deleting Crif1 in mouse skin disrupts skin balance and hair growth.

This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.

This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.

This study found that the AabHLH112 transcription factor positively regulates the biosynthesis of β-caryophyllene, epi-cedrol, and β-farnesene in Artemisia annua.

This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

This study found that the Arabidopsis cation chloride cotransporter CCC1 is critical for regulating pH in the trans-Golgi network/early endosome, impacting plant growth and stress response.

This study found that Basonuclin 1 knockdown in human primary keratinocytes significantly reduces cell proliferation and affects migration, indicating its role in coordinating the re-epithelization phase of wound healing.

This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

This study found that epidermal-specific deletion of integrin α3β1 significantly reduces papilloma formation in a skin carcinogenesis model by modulating HB stem cell behavior and CCN2 expression.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.

In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.

In this study on Arabidopsis, the researchers identified CIPK13 and CIPK18 as crucial genes for root hair growth, finding that deficiencies in these genes resulted in shorter root hairs and reduced growth rates due to altered calcium oscillations.

This study found that manipulating AKR1D1 expression in human liver cells effectively regulates glucocorticoid clearance and receptor activation, highlighting its role in liver-specific steroid hormone regulation.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study found that deleting transferrin receptor 1 in specific mouse tissues led to varied lethal outcomes, demonstrating its diverse roles beyond iron uptake.

This study concluded that CNGC14 is a calcium-permeable channel crucial for polarized tip growth in Arabidopsis root hairs, but other channels may also influence the observed calcium influx.

This study found that overexpressing the PCaP2 protein in Arabidopsis enhanced drought tolerance by influencing ABA and SA signaling pathways and regulating root hair growth, suggesting a key role in water deficit response.

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.