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.
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510-540 / 1000+ results research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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 The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research The Role of Nutrition on Thyroid Function
A balanced diet with essential micronutrients is crucial for healthy thyroid function.
research Targeting the Complexity of In Vitro Skin Models: A Review of Cutting-Edge Developments
In vitro skin models are improving but still need more innovation to fully replicate human skin.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function
TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health
Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.
research The Contribution of the Intestinal Microbiota to the Celiac Disease Pathogenesis along with the Effectiveness of Probiotic Therapy
Probiotics may help manage celiac disease by improving gut health and reducing symptoms.
research Engineering a New Mouse Model for Vitiligo
A new mouse model for vitiligo helps study immune responses and potential treatments.
research Women with PCOS have a heightened risk of cardiometabolic and cardiovascular diseases: statement from the Experts Group on Inositol in Basic and Clinical Research and PCOS (EGOI-PCOS) and Italian Association of Hospital Cardiologists (ANMCO)
Women with PCOS have a higher risk of heart disease.
research Psychological Stress-Induced Pathogenesis of Alopecia Areata: Autoimmune and Apoptotic Pathways
Stress may contribute to hair loss in alopecia areata by affecting immune responses and cell death in hair follicles.
research Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions
ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
research Three-Dimensional Analysis of Sex- and Gonadal Status- Dependent Microglial Activation in a Mouse Model of Parkinson’s Disease
Sex and sex hormones can affect brain inflammation in Parkinson's disease, with male mice being more affected and female mice showing a protective effect.
research The Roles of EDA2R in Ageing and Disease
EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
research Alopecia Areata – Effects of Treatment with Upadacitinib – Two Case Reports
Upadacitinib can effectively regrow hair in alopecia areata patients without worsening sarcoidosis.
research Targeting the Gut Microbiota with Pro- and Postbiotics: Emerging Strategies against Alopecia
Modifying gut bacteria with pro- and postbiotics may help treat hair loss.
research Understanding the Secular Decline in Testosterone: Mechanisms, Consequences, and Clinical Perspectives
Lifestyle changes and environmental strategies can help address declining testosterone levels.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Genetic Insights into Acne, Androgenetic Alopecia, and Alopecia Areata: Implications for Mechanisms and Precision Dermatology
Genetic insights can lead to personalized treatments for acne, androgenetic alopecia, and alopecia areata.
research The Potential of Hair Matrix for Biomarker Analysis in Schizophrenia
Hair analysis could help diagnose and treat schizophrenia more effectively.
research Bacteroides fragilis and Microbacterium as Microbial Signatures in Hashimoto’s Thyroiditis
Bacteroides fragilis and Microbacterium sp. T32 may be linked to autoimmune activity in Hashimoto's thyroiditis and alopecia areata.
research Effectiveness of Autologous Platelet-Rich Plasma for Androgenetic Alopecia: A Double-Center, Non-Controlled, Randomized Clinical Study in Vietnam
PRP therapy effectively improves hair density and reduces hair loss in androgenetic alopecia.
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 Dual Relief: How Atopic Dermatitis Treatments Affect Alopecia Areata—A Small Retrospective Cohort Study
Most patients improved in both atopic dermatitis and alopecia areata with certain treatments, but some had worsened symptoms, suggesting personalized care is needed.
research Depression, higher level of tension induction, and impaired coping strategies in response to stress in women with PCOS correlate with clinical and laboratory indices of hyperandrogenism and not with central obesity and insulin resistance
Women with PCOS have more depression and stress due to high androgen levels, not obesity or insulin resistance.