research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
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360-390 / 1000+ resultsresearch Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Goat Genomic Resources: The Search for Genes Associated with Its Economic Traits
Identifying specific genes helps improve goat breeding for better traits like growth and milk production.
research ERULUS Is a Plasma Membrane-Localized Receptor-Like Kinase That Specifies Root Hair Growth by Maintaining Tip-Focused Cytoplasmic Calcium Oscillations
ERULUS is crucial for root hair growth by controlling calcium levels.
research Scientific opinion on the tolerable upper intake level for selenium
Adults should not consume more than 255 micrograms of selenium per day to avoid risk of hair loss and other side effects.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat
Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Efficacy of metformin therapy in adolescent girls with androgen excess: relation to sex hormone–binding globulin and androgen receptor polymorphisms
Metformin works better for adolescent girls with PCOS who have certain genetic variations.
research A novel calmodulin‐interacting Domain of Unknown Function 506 protein represses root hair elongation in Arabidopsis
The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
research Sex hormones in SARS-CoV-2 susceptibility: key players or confounders?
Sex hormones' effects on COVID-19 are unclear and more research is needed to understand their potential as treatment.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research An overview of current strategies and future prospects in drug repurposing in tuberculosis
Drug repurposing offers promising strategies to improve tuberculosis treatment despite challenges.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Erythema Nodosum Associated with Kerion: A Case Series and Narrative Review of the Literature
Erythema nodosum linked to kerion can be treated effectively with antifungals and steroids to reduce scarring.
research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits
KRT85 gene variations can help improve wool traits in sheep through selective breeding.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Dissecting the Impact of α-MSH-MC1R-cAMP Signaling on UVA-Induced Stress in Fibroblasts - Implications for Regulation of Cutaneous Photoaging
The α-MSH-MC1R-cAMP pathway does not protect skin cells from UVA damage.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Potential Therapeutic Targets for Androgenetic Alopecia (AGA) in Obese Individuals as Revealed by a Gut Microbiome Analysis: A Mendelian Randomization Study
Gut bacteria pathways may help treat hair loss in obese people.