research Endosymbiosis-inspired engineering of mitochondrial-enriched extracellular vesicles supercharges host mitochondria via the autophagy-lysosome pathway
Engineered vesicles deliver mitochondria to improve diabetic wound healing.
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900-930 / 1000+ results research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research In vitro Differentiation of Melanocyte Stem Cells Derived from Vitiligo Patients into Functional Melanocytes
Melanocyte stem cells from non-affected skin in vitiligo patients can become functional melanocytes for potential therapy.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Genetically determined metabolites in allergic conjunctivitis: A Mendelian randomization study
Eight blood metabolites are linked to causing allergic conjunctivitis, offering new ways to predict and treat it.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research MP09-17 METHYLATION OF SRD5A2 IN THE BLOOD AS A NOVEL BIOMARKER TO PREDICT SENSITIVITY TO 5-ARI TREATMENT
SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
research Action of Thioglycolic Acid and L-Cysteine to Disulfide Cross-Links in Hair Fibers during Permanent Waving Treatment
Thioglycolic acid and L-cysteine change hair structure differently during perms, affecting hair strength and curling efficiency.
research Eosinophilic Pleuropericardial Effusion due to Valproic Acid
Valproic acid can cause a rare allergic reaction leading to fluid around the lungs and heart, which is treatable by changing medication.
research Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne
Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Matrix effects and application of matrix effect factor
Matrix effects in LC-MS can be managed but not completely avoided.
research Errata
The document corrects errors in previous articles, including a reversed term, updated subject weights, hair count data, and reference numbering.
research N6-methyladenosine RNA Methylation Correlates with Immune Microenvironment and Immunotherapy Response of Melanoma
Low m6Ascores in melanoma predict better survival and response to immunotherapy.
research Possible Carbamazepine-Induced Reversible Onychomadesis
Carbamazepine may cause reversible nail detachment.
research Transcriptomic profiling of Arabidopsis Thaliana responses to Stutzerimonas stutzeri, chlorella vulgaris, and mixed consortium inoculation under salt stress
research Transgenic rescue of desmoglein 3 null mice with desmoglein 1 to develop a syngeneic mouse model for pemphigus vulgaris
The study created a mouse model that survives longer and shows fewer symptoms of pemphigus vulgaris.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Pharmacokinetic and Therapeutic Dose Comparison of Diane-35 and IVF-C Inj 5000 IU in Common Quail
Both steroids, especially cyproterone acetate, harm quail's vital organs.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Therapeutic effects of topical Mycophenolate mofetil on hydroquinone-induced depigmentation in Guinea pigs and mice
Mycophenolate mofetil may safely help restore skin color in depigmentation conditions.
research GENOME-WIDE ANALYSIS REVEALS THE MOLECULAR BASIS OF GENETIC VARIATION OF IMPORTANT ECONOMIC TRAITS IN CASHMERE GOATS ON QINGHAI-TIBET PLATEAU
Genetic analysis of Cashmere goats identified key genes for wool, reproduction, and high-altitude adaptation.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.