research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
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870-900 / 1000+ results research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research ROBO4 deletion ameliorates PAF-mediated skin inflammation via regulating the mRNA translation efficiency of LPCAT1/LPCAT2 and the expression of PAF receptor
Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Resolution of experimental malaria-associated acute respiratory distress syndrome is Alox12 independent and shows residual inflammation
Resolving malaria-related lung issues doesn't rely on Alox12 and leaves some inflammation.
research Purification and characterization of rat liver minoxidil sulphotransferase
Enzyme purified and characterized for minoxidil sulphation in rat liver.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Hepatotoxicity Secondary to A Drug to Lose Weight, "Orlistat": to take into Account as a Differential Diagnosis
The weight loss drug Orlistat can cause liver damage and should be used with caution, especially in those with liver or kidney issues.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Molecular Mechanisms in the Etiology of Polycystic Ovary Syndrome (PCOS): A Multifaceted Hypothesis Towards the Disease with Potential Therapeutics
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Machine learning-based steroid metabolome analysis reveals three distinct subtypes of polycystic ovary syndrome and implicates 11-oxygenated androgens as major drivers of metabolic risk
PCOS has three subtypes, with 11-oxygenated androgens increasing metabolic risk.
research Polycystic Ovarian Syndrome: Is It Time to Rename PCOS to HA-PODS?
The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research 1330 The possible role of PTEN-induced kinase 1-mediated mitophagy by regulating inflammasome activation in the pathogenesis of alopecia areata
Activating mitophagy may help manage a key immune response involved in the hair loss condition alopecia areata.
research 307 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 The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Biochemical and histological effects of feeding thermally oxidized rapeseed oil and lard to rats.
Feeding rats oxidized rapeseed oil and lard caused weight loss, organ damage, and toxicity symptoms.
research Relation Between Non-Alcoholic Fatty Pancreas and Clinical and Biochemical Parameters in Women with Polycystic Ovary Syndrome: A Multi-Centric Study
Women with Polycystic Ovary Syndrome are more likely to have Non-Alcoholic Fatty Pancreas Disease, which is associated with older age, metabolic syndrome, insulin resistance, and high male hormone levels.
research Identification of microRNAs involved in growth arrest and cell death in hydrogen peroxide-treated human dermal papilla cells
Targeting specific miRNAs may help treat hair follicle issues caused by hydrogen peroxide.
research Μελέτη του επιπολασμού της υπερανδρογοναιμίας σε Ελληνίδες γυναίκες με σύνδρομο πολυκυστικών ωοθηκών με βάση τα δύο διαφορετικά κριτήρια διάγνωσης (NIH 1990, Rotterdam 2004)
Accurate diagnosis of PCOS requires comprehensive androgen measurement.
research Nonalcoholic fatty liver disease in young adult Egyptian women with polycystic ovary syndrome
Many young Egyptian women with PCOS also have fatty liver disease, especially if they are overweight and insulin resistant.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research The Aldo-Keto Reductase AKR1B10 Is Up-Regulated in Keloid Epidermis, Implicating Retinoic Acid Pathway Dysregulation in the Pathogenesis of Keloid Disease
The study found that the enzyme AKR1B10 was significantly up-regulated in keloid epidermis, suggesting a link between retinoic acid pathway dysregulation and keloid disease pathogenesis. Overexpression of AKR1B10 in normal keratinocytes mimicked the retinoic acid pathway changes seen in keloid epidermis, supporting the hypothesis that AKR1B10 contributes to keloid formation by promoting a profibrotic profile. The research highlighted the potential of targeting AKR1B10 as a therapeutic approach for keloid disease, as current retinoic acid treatments were only partially effective. The study emphasized the importance of epithelial-mesenchymal interactions and suggested that AKR1B10-selective inhibitors could be promising treatments.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.