research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
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360-390 / 1000+ resultsresearch Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
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 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 Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Identification of Beta-Sitosterol and Stigmasterol as Possible Inhibitors of 5 Alpha-Reductase 1: An In-Silico Study
Beta-sitosterol and stigmasterol might help prevent hair loss by blocking a specific enzyme.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Increased Risk of Chronic Fatigue and Hair Loss Following COVID-19 in Individuals with Hypohidrotic Ectodermal Dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome: A Case Report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Understanding Type 3 Innate Lymphoid Cells and Crosstalk with the Microbiota: A Skin Connection
Type 3 Innate Lymphoid Cells help maintain skin health and balance, and are involved in skin diseases and healing.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
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 Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Evaluation of Androgen Receptor Gene as a Candidate Gene in Female Androgenetic Alopecia
The androgen receptor gene doesn't help identify women likely to have female pattern hair loss.
research Genetic Diversity of Armillaria Species Symbiotic with Polyporus Umbellatus in China
Different types of Armillaria fungus have a high genetic variety when partnering with Polyporus umbellatus mushrooms in China.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Prolonged Incubation Period for Cryptococcus Gattii Infection in Cat, Alaska, USA
Cryptococcus gattii can remain dormant in animals for over 8 years.
research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research Causal Effects of Lipids-Related Metabolites on Androgenic Alopecia: A Mendelian Randomization Study
Certain fats in the blood are linked to an increased risk of male pattern baldness.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Clinical Biochemistry of Dihydrotestosterone
Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
research Correlation Between Individual Inflammation Genetic Profile and Platelet-Rich Plasma Efficacy in Hair Follicle Regeneration: A Pilot Study Reveals Prognostic Value of IL-1α Polymorphism
Your genes, especially IL-1a, can predict how well a hair growth treatment with platelet rich plasma will work for you.
research Increased Frequency of the DI Genotype of the Angiotensin-I Converting Enzyme and Association of the II Genotype with Insulin Resistance in Polycystic Ovary Syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome
Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.