research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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210-240 / 1000+ resultsresearch Molecular Regulatory Mechanisms in Chicken Feather Follicle Morphogenesis
The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Exome Analysis for Cronkhite-Canada Syndrome: A Case Report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Treatment of Hypotrichosis Simplex of the Scalp with the Combination of Botanical Extracts and Minoxidil: A Case Report
Combining minoxidil and plant extracts improved hair growth in a boy with a rare genetic disorder.
research Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Transcriptomic Inspection Revealed a Possible Pathway Regulating the Formation of the High-Quality Brush Hair in Chinese Haimen Goat (Capra Hircus)
Scientists found genes linked to the growth of high-quality brush hair in Chinese Haimen goats.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Why Were Sardinians the Shortest Europeans? A Journey Through Genes, Infections, Nutrition, and Sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research Androgenetic Alopecia in Men
AGA treated with finasteride, minoxidil, and hair transplantation.
research Cutaneous Signals of Immune System Disease
Skin issues can indicate immune system problems.
research Dermal Adipocyte Lipolysis and Myofibroblast Conversion Are Required for Efficient Skin Repair
Fat cells in the skin help start healing and form important repair cells after injury.
research Pathways to Inflammation: Acne Pathophysiology
Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.
research The Human Skin Microbiome in Selected Cutaneous Diseases
Changes in skin microbes play a role in some skin diseases and could lead to new treatments.
research Disease Versus Disease: How One Disease May Ameliorate Another
Some diseases can improve the outcomes of other diseases, leading to new treatment possibilities.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Polycystic Ovary Syndrome: Features, Diagnostic Criteria, and Treatments
PCOS is a long-term condition that needs more research for better understanding and treatment.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research Disorders of Hair
The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
research Inheritance-Specific Dysregulation of Th1 and Th17-Associated Cytokines in Alopecia Areata
Certain immune-related proteins are higher in people with alopecia and their healthy relatives, hinting at a genetic link.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Unveiling the Nuances of Adult Female Acne: A Comprehensive Exploration of Epidemiology, Treatment Modalities, Dermocosmetics, and the Menopausal Influence
Adult female acne is a complex condition that can worsen with menopause, requiring holistic treatment and tailored skincare at different life stages.
research Androgenetic Alopecia, Hirsutism, and Hypertrichosis
Hair loss and excessive growth treated with various options, including new laser technology.
research Health And Fertility In World Health Organization Group 2 Anovulatory Women
Women with PCOS may take longer to get pregnant but can have a normal family size, and should manage their overall health to reduce long-term health risks.
research Unmet Medical Needs in Chronic, Non-Communicable Inflammatory Skin Diseases
There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
research COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine
The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.