research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
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750-780 / 1000+ results research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research Different effects of phospholipase Dζ2 and non‐specific phospholipase C4 on lipid remodeling and root hair growth in Arabidopsis response to phosphate deficiency
PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
research Doxil (Caelyx): an exploratory study with pharmacokinetics in patients with hormone-refractory prostate cancer
Doxil showed some effectiveness against advanced prostate cancer but caused severe side effects at higher doses.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Proteomic Profiling of Central Centrifugal Cicatricial Alopecia Reveals Role of Humoral Immune Response Pathway and Metabolic Dysregulation
CCCA involves immune response and metabolism issues, suggesting new treatment options.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Protective Effect of “ Ark‐e‐Kasni ,” a Unani Formulation, in Letrozole and High‐Fat Diet–Induced Polycystic Ovarian Syndrome in Rats
Ark-e-Kasni improves PCOS symptoms and may be a potential treatment.
research Bioconversion, Pharmacokinetics, and Therapeutic Mechanisms of Ginsenoside Compound K and Its Analogues for Treating Metabolic Diseases
Ginsenoside compound K shows promise for treating metabolic diseases like diabetes and obesity.
research A New Immune-Biochemical Study To Identify Indicators Of The Response Of Infertile Polycystic Ovary Syndrome Patients To Metformin Treatment
CLEC10A and interleukin-42 can help identify PCOS patients' response to Metformin treatment.
research Metabolic aspects of different phenotypes of polycystic ovary syndrome: Iranian PCOS Prevalence Study
The study suggests that being overweight or obese, not PCOS itself, is strongly linked to insulin resistance.
research Genome-wide identification, characterization, and expression analysis of keratin genes (KRTs) family in yak (Bos grunniens)
Scientists found 53 keratin genes in yaks that are important for hair growth and share similarities with those in other animals.
research Oxygen, Metabolism, and Regeneration: Lessons from Mice
Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
research Integrative approaches for the management of PCOS: A review
Combining different treatments can help manage Polycystic Ovary Syndrome (PCOS) effectively.
research Human hair proteins as natural reactive oxygen species scavengers for in vitro applications
Human hair proteins, especially keratins, can protect cells from oxidative stress in lab settings.
research PSS20 MEDIATION MODELING AND MEASUREMENT CHARACTERISTICS OF THE ITCH SEVERITY SCORE FROM A PHASE 2B TRIAL OF ORAL CP-690-550 IN PATIENTS WITH MODERATE TO-SEVERE PLAQUE PSORIASIS
CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
research Biochemical predictor for polycystic ovary syndrome
The uric acid to creatinine ratio is a strong indicator for diagnosing PCOS.
research Oral contraceptive pill (OCP) treatment alters the gene expression of intercellular adhesion molecule-1 (ICAM-1), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1 (MCP-1) and plasminogen activator inhibitor-1 (PAI-1) in polycystic ovary syndrome (PCOS) women compared to drug-naive PCOS women
Birth control pills change the activity of certain inflammation and blood clotting genes in women with PCOS.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target
CD2 might be a new treatment target for patchy alopecia areata.
research Higher androgen and estrogen output and less follicular atresia can be induced in healthy ovaries by culturing them with sera from PCOS patients: is PCOS really of intraovarian origin?
PCOS may be influenced by factors in the blood, not just the ovaries.
research Evaluation of cardiac risk marker levels in obese and non-obese patients with polycystic ovaries
Obese and non-obese women with PCOS have higher heart risk markers, especially if they are obese.
research Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
research Role of Oxidative Stress in Polycystic Ovary Syndrome
Oxidative stress contributes to Polycystic Ovary Syndrome.
research Expression analysis of KAP9.2 and Hoxc13 genes during different cashmere growth stages by qRT-PCR method
KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research Characteristics of phenotypes (clinical variants) of polycystic ovary syndrome in women of reproductive age
Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.