research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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90-120 / 1000+ resultsresearch Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research A Case-controlled Comparative Hospital-based Study on the Clinical, Biochemical, Hormonal, and Gynecological Parameters in Polycystic Ovary Syndrome
Women with PCOS often have different clinical signs, hormone levels, and gynecological issues compared to those without the condition.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Physician Awareness of the Safe Use of Cyproterone Acetate in Europe: A Survey on the Effectiveness of Additional Risk Minimization Measures
Most European physicians know the risks and safe use of Cyproterone acetate, but few remember receiving official safety communications.
research Paraproteinemic keratopathy: recognizing the ocular significance
Paraproteinemic keratopathy can show eye symptoms before other signs of disease, needing careful treatment and long-term follow-up.
research Inhibition of the development of metastatic squamous cell carcinoma in protein kinase C epsilon transgenic mice by alpha-difluoromethylornithine accompanied by marked hair follicle degeneration and hair loss.
Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
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 Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Cardiovascular risk factors in young Czech females with polycystic ovary syndrome
Young Czech women with PCOS have a higher risk of heart problems and should be regularly checked for cholesterol and glucose issues.
research The biphasic regulatory effect of diphencyprone on mouse hair growth and its relation to protein kinase C isoforms
Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
research L’étude PCPT
research G4, is a new transgenic mouse model for the polycystic ovaries syndrome
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
research The Mixed Lineage Kinase Leucine-Zipper Protein Kinase Exhibits a Differentiation-Associated Localization in Normal Human Skin and Induces Keratinocyte Differentiation upon Overexpression
ZPK helps skin cells mature and may affect skin health.
research Serum Cystatin C levels in adolescent females: A comparative study between PCOS and Non-PCOS groups
Adolescent females with PCOS have higher serum cystatin C levels, indicating potential metabolic and cardiovascular issues.
research Polycystic Ovaries: A Cross Sectional Study on Unmarried Girls in KSA
PCOS affects many young women in KSA, with mild cases being most common.
research Activation of Cutaneous Protein Kinase Cα Induces Keratinocyte Apoptosis and Intraepidermal Inflammation by Independent Signaling Pathways
Activating PKCα in skin causes cell death and inflammation through different pathways.
research PCSK9: From Nature’s Loss to Patient’s Gain
Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
research Ornithine Decarboxylase Expression Leads to Translocation and Activation of Protein Kinase CK2 in Vivo
High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES
Early diagnosis and personalized treatment are crucial for managing PCOS and preventing complications.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Polycystic ovary syndrome (PCOS )
The document concludes that managing PCOS effectively requires considering ethnic differences, obesity's impact, and ethical concerns in treatment approaches.
research Multi-specialty Physician Preferences and Perceptions in Treatment and Management of Polycystic Ovary Syndrome in China: Survey and Discrete Choice Experiment
Physicians in China prioritize clinical hyperandrogenism in PCOS treatment, but clearer guidelines are needed.
research Overexpression of Lnk in the Ovaries Is Involved in Insulin Resistance in Women With Polycystic Ovary Syndrome
Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
research Association of Cyp11a Gene with Polycystic Ovarian Syndrome Patients in Lahore, Pakistan
The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
research A cell polarity protein, aPKCλ, is essential for maintaining hair follicle stem cell quiescence and hair follicle regeneration
The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.