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This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.

This review addresses obesity-related dermatoses and highlights the potential increased risk of skin cancer associated with obesity; it presents no new clinical findings.

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

This study found that the medication dyclonine has a potent inhibitory effect on the TRPV3 channel, effectively rescuing cell death and alleviating pruritus symptoms in a mouse model with gain-of-function TRPV3 mutations, suggesting potential for treating skin inflammation.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.

This report documents the successful use of theophylline in treating an 11-year-old girl with a rare immunodeficiency syndrome, suggesting potential in drug repurposing for primary immunodeficiency disorders and asthma.

This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.

This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.

In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.

In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.

This article reviews recent insights into the regulatory role of reactive oxygen species in plant development, highlighting that their mechanisms and signaling pathways remain partially understood.

This review highlights cobalt's essential role in vitamin B12 metabolism and its biomedical applications but also warns of health risks from high levels and environmental contamination, discussing remediation methods like phytoremediation.

This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.

In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.

This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.

This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.

This article discusses the potential of induced pluripotent stem cells (iPSCs) for generating skin components, particularly for genetic skin disorder modeling and gene-corrected regenerative therapies, but reports no new clinical results.

This article reviews how anatomical differences in skin arise and persist, and suggests the underlying molecular positional code is more complex than apparent, but reports no new research findings.

This thesis investigates the role of phosphorylation and the mutation F826L in modulating androgen receptor activity, but concludes that the precise effects are not yet fully clear.

Balanced protease activity is crucial for healthy skin and hair development.

This study observed that nevus melanocytes do not exhibit signs of senescence, suggesting that their growth arrest is due to cell interactions and not directly caused by BRAF activation.

This review discusses the roles of the Agouti and Agouti-related proteins in pigmentation and energy regulation and reports no new experimental findings.