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This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.

This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

In this nonrandomized controlled trial, tenon capsule injection of platelet-rich plasma improved capillary perfusion and may enhance short-term vision in patients with acute nonarteritic anterior ischemic optic neuropathy.

This study found that CRISPR/Cas9-induced loss-of-function mutations in the FGF5 gene significantly increased wool length and yield in genetically modified Chinese Merino sheep compared to wild-type controls.

This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.

This article reviews CRISPR/Cas system delivery methods for genome editing and highlights RNA's promise in non-viral in vivo applications but reports no new clinical results.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.

This study found that the Hr gene loss and positive selection for the FGF5 gene in cetaceans likely contributed to hair loss as these animals adapted to aquatic environments.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.

This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.

This review discusses advances in CRISPR/Cas9 variants and nanoformulations for cancer treatment, noting challenges and prospects for clinical application, but reports no new research results.

This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.

This review discusses various methods for delivering CRISPR/Cas9 for gene editing in vitro and in vivo, highlighting delivery as a major challenge but reports no new experimental results.

This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.

This study suggests an association between DNA methylation changes in hair follicles and inherited color dilution in Rex rabbits, contributing to a deeper understanding of epigenetic influences on rabbit pigmentation.

This review explores the crucial role of regulatory T cells in skin wound healing, emphasizing their involvement in balancing immune responses and promoting regeneration. It also discusses Tregs' operations in fibrosis, keloidosis, and scarring, suggesting a potential avenue for novel treatments.

This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.

This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.

This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.

This study found that specific gene upregulations and mutations in hidradenitis suppurativa skin support the role of inflammation, altered epithelial differentiation, and metabolism dysregulation in the disease's pathogenesis.

This study mapped gene expression in different skin structures of dogs, finding similarities to humans that support using dogs as models for human skin diseases.

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.