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300-330 / 477 resultsresearch The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Phenotypic-Genotypic Expansion of Plectinopathy in a Patient With Muscular Dystrophy and Immune-Mediated Myasthenia Gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Characterization of X-Linked SNP Genotypic Variation in Globally Distributed Human Populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
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 A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Pilot Study: Genetic Distribution of AR, FGF5, SULT1A1, and CYP3A5 Polymorphisms in Male Mexican Population with Androgenetic Alopecia
Certain genetic variations are linked to hair loss in Mexican men.
research Association of Eight Single Nucleotide Polymorphisms of Chromosomes 20 and X with Androgenetic Alopecia Among Ethnic Han Chinese from Yunnan
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
research Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research White Piedra: An Uncommon Superficial Fungal Infection of Hair
White piedra is a rare hair infection treated with oral and topical antifungals.
research LO-010 Relationship Between The EULAR/ACR Classification Criteria And Organ Damage In Systemic Lupus Erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
research Responsiveness of the CLASI to Alopecia and Mucous Membrane Involvement: A Retrospective Study of Prospectively Collected Data
Excluding alopecia and mucous membrane components from the CLASI-A score reduces its effectiveness in capturing important disease activity.
research Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne
Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
research Highlights
Melatonin may help with nerve pain, a hepatitis C drug is effective but has side effects, a treatment for mouth sores works but can cause blood issues, ear reconstruction with an implant is safe, HIV transmission from mother to child in Taiwan is now 0% with treatment, certain blood problems are more common in people with a tongue condition, a gene and being overweight are linked to hair loss in some women, a new technique could reduce radiation for lung nodule patients, a hepatitis treatment may lower cancer recurrence after a procedure, and adding extra screening improves tuberculosis detection in patients with lung infections.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
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 A Mouse Model of Androgenetic Alopecia
Mice with human gene experienced hair loss when treated with DHT.
research Hair Extensions: A Concerning Cause of Hair Disorders
Hair extensions can cause hair loss and scalp damage, and these problems might be more common than people realize.
research Polycystic Ovary Syndrome in Adolescents
Early diagnosis and treatment are key to managing health risks in teens with PCOS.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Polymorphism in the A2M Gene Associated with High-Quality Milk in Murrah Buffaloes (Bubalus Bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research Dermatologic Care of the Transgender Patient
Hormonal therapy changes skin and hair in transgender patients, who need better researched dermatologic care.
research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Polycystic Ovary Syndrome: Comprehensive Overview
PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
research The Agouti Mouse Model: An Epigenetic Biosensor for Nutritional and Environmental Alterations on the Fetal Epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research Acne
Acne affects most teenagers and can continue into adulthood, with various treatments available that show improvement but have concerns like antibiotic resistance and side effects.
research Screening for 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia Among Hyperandrogenic Women: A Prospective Study
Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.