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In this study, researchers identified a gene regulatory network in Arabidopsis that controls root hair growth under low-temperature conditions, revealing specific transcription factors and downstream targets that contribute to this growth response despite overall plant development being halted.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.

This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.

This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.

This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.

In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.

This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

TEDAR is crucial for skin cell differentiation and barrier formation.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.

This study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.

This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.