research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
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240-270 / 1000+ resultsresearch FORENSIC DNA PHENOTYPING FOR CRIMINAL IDENTIFICATION
Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
Certain genetic variants increase the risk of aggressive prostate cancer.
research Integrated miRNA-mRNA analysis reveals regulatory pathways underlying the curly fleece trait in Chinese tan sheep
Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
research Transcriptomic analysis of regulatory mechanisms in the telogen-anagen transition of ovine hair follicles
Key genes and pathways control sheep hair growth phases.
research Identification of Potential Biomarkers for Diagnosis of Patients with Methamphetamine Use Disorder
Gene expression in hair follicles can help diagnose methamphetamine use disorder.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research A State-of-the-Art Overview on (Epi)Genomics and Personalized Skin Rejuvenating Strategies
Personalized skin rejuvenation using genomics shows promise but needs more research.
research Reshaped DNA methylation cooperating with homoeolog‐divergent expression promotes improved root traits in synthesized tetraploid wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research In This Issue
Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
research Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
New genetic locations explain much of hair color variation in Europeans.
research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research A Machine Learning-Based Scalp Hair Inspection and Diagnosis System for Scalp Health
The system can automatically identify different hair and scalp conditions using machine learning.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research Machine learning for nanozyme development in anti‐inflammatory applications
Rational design strategies are crucial for developing effective nanozymes for anti-inflammatory uses.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research The Hidden Link between Polycystic Ovary Syndrome and Kidney Stones: Finding from the Tehran Lipid and Glucose Study (TLGS)
Women with PCOS are more likely to develop kidney stones, especially those with certain PCOS types.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Five cluster classifications of long COVID and their background factors: A cross-sectional study in Japan
The study identified five types of long COVID symptoms and suggests tailored management strategies for each.
research Current Guidelines for Diagnosing PCOS
The guidelines suggest reconsidering PCOS criteria for better diagnosis and care.
research The Vitamin D Receptor Is a Wnt Effector that Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis
Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
research Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state
Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.