research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
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research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Twenty-Five and Up Study: A New Wave of the Brisbane Longitudinal Twin Study
The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.
research Development of Chinese Version of Polycystic Ovary Syndrome Health-Related Quality of Life Questionnaire
The Chinese version of the PCOS quality of life questionnaire is reliable and valid for Chinese-speaking women with PCOS.
research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Changes in Metabolic Profile in Women with a History of PCOS: A Long-Term Follow-Up Study
Women with PCOS are at high risk of glucose metabolism issues and heart diseases, especially if overweight, highlighting the need for early intervention.
research Circulating and Intraprostatic Sex Steroid Hormonal Profiles in Relation to Male Pattern Baldness and Chest Hair Density Among Men Diagnosed with Localized Prostate Cancers
Baldness in men with prostate cancer is linked to higher levels of certain sex hormones, but chest hair density is not.
research Possible Association Between Androgenic Alopecia and Risk of Prostate Cancer and Testicular Germ Cell Tumor: A Systematic Review and Meta-Analysis
Baldness, especially at the front, may lower the risk of testicular cancer by 31%, but its link to prostate cancer is unclear.
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.
research Genome-Wide Shifts in Gene Expression Induced in Theca-Interstitial Cells by Inflammatory Stimuli
African American women have a higher risk of preterm delivery than Caucasian women, and inflammatory stimuli affect gene expression in cells related to PCOS, showing a heightened inflammatory state in women with PCOS.
research Comparison of Androgenic Hormone Levels in Various Phenotypes of Polycystic Ovarian Syndrome in High School Girls Aged 14 to 18 Years
Girls with PCOS and menstrual disorders have notably higher androgen hormone levels.
research Genetics Of Stress Hormone Concentrations In Hair Of Healthy Nursery Pigs And Their Relationship With Back Test Responses
Pig hair cortisol levels are inheritable and linked to stress responses, which could help select for more resilient pigs.
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 Male-Pattern Hair Loss: Comprehensive Identification of the Associated Genes as a Basis for Understanding Pathophysiology
Male-pattern hair loss is largely influenced by genetics, with key genes identified.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research The Role of High Serum Uric Acid Levels in Androgenic and Non-Androgenic Polycystic Ovarian Syndrome Patients
High uric acid levels are more common in PCOS patients, especially those with androgenic PCOS, and are linked with increased cardiovascular risk and other metabolic issues.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
research Genetic Association of Wool Quality Characteristics in United States Rambouillet Sheep
Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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 Correlation Analysis of Four KRTAP Gene Polymorphisms and Cashmere Fiber Diameters in Two Cashmere Goat Breeds
Certain gene variations are linked to the thickness of cashmere goat hair.
research Review on Tridax Procumbens
Tridax procumbens shows potential for various health benefits but needs more scientific research.
research Role of the Wnt Signaling Pathway in Keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.