research Characterization of Hairless (Hr) and FGF5 Genes Provides Insights into the Molecular Basis of Hair Loss in Cetaceans
Cetaceans lost hair due to changes in the Hr and FGF5 genes.
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60-90 / 697 resultsresearch Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms
Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research The ITGB6 Gene: Its Role in Experimental and Clinical Biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research No Improvement in Male-Pattern Hair Loss Using Laser Hair-Comb Therapy: A 6-Month, Half-Head, Assessor-Blinded Investigation in Two Men
Laser hair-comb therapy doesn't improve male-pattern hair loss.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
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 Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Obstetric Dermatology
The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
research Neurosteroidogenesis Today: Novel Targets for Neuroactive Steroid Synthesis and Action and Their Relevance for Translational Research
New targets for making and using brain-synthesized steroids could lead to better treatments for brain disorders and alcoholism.
research Nonalcoholic Fatty Liver Disease and Polycystic Ovary Syndrome
People with PCOS, especially if obese, often have NAFLD, linked to obesity, insulin resistance, and high androgen levels.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Localization of Members of the Notch System and the Differentiation of Vibrissa Hair Follicles: Receptors, Ligands, and Fringe Modulators
Notch-related genes play a key role in the development and cycling of hair follicles.
research Pharmacological BACE1 and BACE2 Inhibition Induces Hair Depigmentation by Inhibiting PMEL17 Processing in Mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research The Influence of Interferon on Healthy and Diseased Skin
Type I interferons play a key role in the development of various skin diseases.
research Acanthosis Nigricans and the Metabolic Syndrome
Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
research Exome-Wide Age-Of-Onset Analysis Reveals Exonic Variants In ERN1 And SPPL2C Associated With Alzheimer’s Disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research The Effects of Estrogens on Linear Bone Growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Region-Specific Reversal of Epidermal Planar Polarity in the Rosette Fancy Mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.