research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures During Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
Search
for
Sort by
Research
60-90 / 1000+ results
research Drug Repurposing: A Promising Approach for Patients With Angina and Non-Obstructive Coronary Artery Disease (ANOCA)
Using existing drugs for new purposes could be a cost-effective way to treat chest pain and non-clogged heart arteries, with some drugs for lung blood pressure showing promise but needing more testing.
research Tyrosine Kinases in Autoimmune and Inflammatory Skin Diseases
Tyrosine kinases are important in skin autoimmune diseases and could be targets for new treatments.
research Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Episodic Bilateral Corneal Edema Caused by Hair Grooming Gel
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Novel Advances of Histone Modification in Inflammatory Skin Diseases and Related Treatment Methods
Histone modification is key in treating chronic inflammatory skin diseases.
research The Prolactin Receptor as a Therapeutic Target in Human Diseases: Exploring New Potential Indications
Blocking the prolactin receptor might help treat various diseases, but more research is needed.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Human Regulatory T Cells: Role in Autoimmune Skin Diseases and Post-Transplant Nonmelanoma Skin Cancers
Understanding how Regulatory T Cells work could help create treatments for certain skin diseases and cancers.
research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion
C-scores can help predict gain-of-function and loss-of-function mutations.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research A Case of Chronic Kidney Disease Patient With Rapid Deterioration of Renal Function, Hair Loss, and Spontaneous Resolution of Facial Warts After COVID-19 Infection
A COVID-19 infected patient with chronic kidney disease experienced worsened kidney function, hair loss, and unexpected wart clearance.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research Endocrine Care of Transpeople Part I: A Review of Cross-Sex Hormonal Treatments, Outcomes, and Adverse Effects in Transmen
Testosterone therapy is generally safe for transmen, improves sexual function, and has manageable health risks with proper monitoring.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research N-Terminal Functional Domain of Gasdermin A3 Regulates Mitochondrial Homeostasis via Mitochondrial Targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Roles of Tumor Suppressors in Regulating Tumor-Associated Inflammation
Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.