research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
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research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research LC-MS/MS Improves Screening Towards 21-Hydroxylase Deficiency
LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
research Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
research Topical Treatment with the Bacterium-Derived c-Met Agonist InlB321/15 Accelerates Healing in the Abrasion Wound Mouse Model
Applying InlB321/15 to wounds sped up healing in mice.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research The Role of MicroRNA, Long Non-Coding RNA, and Circular RNA in the Pathogenesis of Polycystic Ovary Syndrome: A Literature Review
MicroRNAs could be key biomarkers and therapeutic targets for PCOS.
research Chemical Composition and Biological Activities of Essential Oils of Curcuma Species
Essential oils from Curcuma species, like turmeric, have compounds that can fight inflammation, cancer, and bacteria, and can also stimulate hair regrowth in bald males.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Toll-Like Receptor 4 (TLR4): New Insights into Immunity and Aging
TLR4 is important in aging-related diseases and could be a new treatment target.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome: A Pilot Study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Serotoninergic And Melatoninergic Systems Are Fully Expressed In Human Skin
Human skin can make serotonin and melatonin.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Exposure to Non-Ionizing Electromagnetic Fields Emitted from Mobile Phones Induced DNA Damage in Human Ear Canal Hair Follicle Cells
Mobile phone radiation may cause DNA damage in human ear hair follicle cells.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Failures of DNA Methylation Clocks and Development of a Noise Barometer for Measuring Epigenetic Pressure of Aging and Disease
Elastic Net DNA methylation clocks are inaccurate for predicting age and health status; a "noise barometer" may better indicate aging and disease.
research Effects of Bright Light Exposure During Daytime on Peripheral Clock Gene Expression in Humans
Bright light during the day doesn't change most human clock genes but may slightly increase Rev-erb-ß.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Melatonin and the Hair Follicle
Melatonin helps regulate hair growth and protects the hair follicle from stress.
research Identifying Molecular Targets for Reverse Aging Using Integrated Network Analysis of Transcriptomic and Epigenomic Changes During Aging
Curcumin may help reverse aging by targeting specific genes.
research Diurnal Preference Predicts Phase Differences in Expression of Human Peripheral Circadian Clock Genes
An individual's morning or evening preference can predict changes in their body clock gene expression.
research Analysis of Protein Interactions by Surface Plasmon Resonance
Surface Plasmon Resonance is a useful tool for studying protein interactions and has potential for future technological advancements.