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This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.

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.

The Celsr1 gene is crucial for normal hair patterning in mice.

This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.

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 study found that overexpression of the CUX1 protein promotes proliferation of Hu sheep dermal papilla cells and affects key genes in the Wnt/β-catenin signaling pathway.

This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

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.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.

This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.

This study found that depleting HIF-P4H-2 in FoxD1-lineage cells in mice led to disrupted hair follicle development, resulting in truncal alopecia but normal cranial hair, suggesting its crucial role in hair homeostasis.

This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.

This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.

This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.

This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.

TCHHL1 is a protein important for hair growth, found in hair follicles.

This study found that Hex gene expression patterns in chick embryo dorsal skin during feather bud development suggest a significant role in initiating feather morphogenesis.

HDAC1 is crucial for skin development and preventing tumors.

This study suggests that PDCD4 regulates keratinocyte proliferation and contact inhibition, playing a role in epidermal homeostasis and wound healing.

This study found that the deletion of Med1 in dental epithelia causes a shift from dental to hair tissue development, suggesting the importance of Med1 in maintaining tissue-specific lineage.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.