research Polycystic ovary syndrome
Polycystic ovary syndrome is a common hormonal disorder in women that affects health and fertility.
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research Genetic basis of polycystic ovary syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research Evaluation of Serum Paraoxonase, Arylesterase, Prolidase Activities and Oxidative Stress in Patients with Alopecia Areata
People with Alopecia Areata have higher oxidative stress and different enzyme activities compared to healthy individuals.
research 17beta Hydroxysteroid Dehydrogenase Type 3 Inhibitors
The document's conclusion cannot be provided because the document is not available or cannot be read.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Policistisko olnīcu sindroms pusaudzēm – starppaaudžu, ģenētiskie, dzīves kvalitātes un negausīgas ēšanas aspekti. Promocijas darbs
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
research Pathogenesis of Hand-Foot Syndrome induced by PEG-modified liposomal Doxorubicin
PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
research Metabolic features of the reproductive phenotypes of polycystic ovary syndrome
Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research The acyl-CoA binding protein is required for normal epidermal barrier function in mice
ACBP is crucial for healthy skin in mice.
research The polycystic ovary syndrome
Polycystic Ovary Syndrome (PCOS) is a complex disorder with both immediate and long-term health effects, including menstrual issues, infertility, and increased risk of diabetes and heart disease.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research POLYCYSTIC OVARY SYNDROME: DIAGNOSTIC CRITERIA AND TREATMENT METHODS
Early diagnosis and personalized treatment of PCOS improve quality of life and prevent complications.
research Clinical features and presentation of polycystic ovary syndrome
PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Pre‐polycystic ovary syndrome and polymenorrhoea as new facets of polycystic ovary syndrome (PCOS): Evidences from a single centre data set
Polymenorrhoea should be included in PCOS diagnostic criteria due to similar metabolic issues.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Mitochondrial Dysfunction in Lichen Planopilaris with Focus on Oxidative Stress and Metabolic Reprogramming
Mitochondrial dysfunction and oxidative stress may play a role in Lichen Planopilaris.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.