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This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.

This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.

Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.

This review outlines the diagnostic criteria for congenital and hereditary hair shaft abnormalities and emphasizes the need to understand the weathering process in assessing these disorders.

This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.

A specific gene mutation causes woolly hair and hair loss.

In a randomized clinical trial, Robinson et al found that patients with melanoma and their partners could effectively perform skin self-examinations after participating in a 30-minute structured skills training, potentially aiding early detection of additional melanomas.

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

This paper reviews different types of hair shaft dysplasias and does not report any new clinical findings.

This review discusses various environmental and chemical factors that contribute to hair shaft disorders, such as fractures, and highlights the potential roles of cysteine and glutamine in hair health, but reports no new results.

Using minoxidil and tretinoin on the skin, along with oral vitamin D, improved hair thickness and density in two girls with woolly hair.

This review summarizes studies on knockout mouse models revealing abnormalities in skin and hair follicle development but reports no new experimental results; the authors highlight the utility of these models for understanding hereditary skin disorders.

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.

Histone demethylases play a key role in the development of many diseases and may be targets for treatment.

This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.

This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.

This study suggests that acquired progressive kinking of hair, which typically appears at or after puberty, may be androgen dependent and could progress to male pattern baldness.

This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.

This review discusses the relevance of human androgen receptor action in sports doping and examines the potential of cell-based biological assays for detecting androgenic anabolic steroid use, without presenting new research findings.

The document concludes that various hair disorders have different treatments, including medication, surgery, and addressing underlying causes.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

This article describes the potential applications of myoblast implantation for muscle regeneration and its promising social and economic value but reports no new clinical results.

This review explores the potential of self-amplifying RNA technology for protein replacement therapy in various health disorders but reports no new experimental results, indicating challenges remain for clinical approval.

This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

Understanding skin structure and development helps diagnose and treat skin disorders.

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.