research At the Root: Cutaneous Langerhans Cell Histiocytosis
This case report describes a 33-year-old woman with long-standing scalp issues and hair loss, revealing an unusual connection to past melanoma, but it presents no new research results.
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research LC-MS/MS improves screening towards 21-hydroxylase deficiency
This study found that LC-MS/MS is a more reliable method than immunoassays for measuring serum 17OHP and androgen levels in women with hyperandrogenism.
research Simultaneous quantitation of nine hydroxy-androgens and their conjugates in human serum by stable isotope dilution liquid chromatography electrospray ionization tandem mass spectrometry
This study developed and validated a mass spectrometric method to measure hydroxy-androgens in serum, which aids in understanding androgen synthesis in castration resistant prostate cancer.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
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.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
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.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
research A volatile producing Bacillus subtilis strain from the rhizosphere of Haloxylon ammodendron promotes plant root development
This study found that volatile compounds from Bacillus subtilis strain WM13-24 improved root development in Arabidopsis by influencing auxin signaling.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
research Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.
research Introductory Chapter: Polycystic Ovarian Disease: The Rainbow Without Color (SPECTRUM)
PCOD is a complex condition with unclear causes and varied treatments.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
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.
research Study on the Efficacy and Potential Mechanism of Topical Shen Bai Hair Growing Decoction against Androgenetic Alopecia Based on Ultrahigh Performance Liquid Chromatography Quadrupole Time-of-Flight Mass Spectrometry and RNA-seq
This study found that the topical Shen Bai hair growing decoction may improve androgenetic alopecia in mice by suppressing TNF-α and IL-6 levels, enhancing follicle density, and reducing apoptosis.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
This study found that measuring certain steroids in hair can help diagnose and monitor congenital adrenal hyperplasia in Indonesian patients, offering a simple noninvasive method for developing countries.
research New developments in the molecular treatment of ichthyosis: review of the literature
This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
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.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
research K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) Represent the Type I Inner Root Sheath Keratins of the Human Hair Follicle
This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.
research Evolution of hard proteins in the sauropsid integument in relation to the cornification of skin derivatives in amniotes
This paper reviews the evolution of skin appendages and keratin-associated proteins among amniotes, proposing a model for their genetic divergence without new experimental results.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Milestones in Photocarcinogenesis
This review explores the mechanisms by which UV radiation causes skin cancer, highlighting UV-induced DNA damage and its implications for cancer prevention strategies, but reports no new findings.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Hair for brain trade-off, a metabolic bypass for encephalization
This study suggests that hair loss was a metabolic adaptation allowing hominids to evolve larger brains by alleviating dietary restrictions on essential amino acids for hair and brain development.
research Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Proteomics as a tool to improve novel insights into skin diseases: what we know and where we should be going
This review discusses the role of proteomics in understanding skin diseases such as cancers and psoriasis, with findings suggesting cell death and metabolism as major areas of focus, but reports no new experimental results.
research Tradescantia-Based Test Systems Can Be Used for the Evaluation of the Toxic Potential of Harmful Algal Blooms
In this study, the genotoxic effects of the 2020 harmful algal bloom event were linked to specific toxic algal groups affecting Tradescantia plants, making Trad-SHM and Trad-MN tests suitable for evaluating HABs' toxic potential.
research Vitiligo – Study In view of familial occurence
In this study, 26.66% of vitiligo patients had a familial occurrence, indicating that genetic variations significantly contribute to the disease's etiology.