research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
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720-750 / 1000+ results research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research Challenges and Strategies for Improving the Regenerative Effects of Mesenchymal Stromal Cell-Based Therapies
Improving mesenchymal stromal cell therapies requires overcoming cell death and optimizing delivery methods.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Eflúvio telógeno após dermatite de contato no couro cabeludo
Contact dermatitis treatment for alopecia areata can lead to temporary hair loss.
research Drug Repurposing for Rare Diseases
Drug repurposing offers a faster, cheaper way to find treatments for rare diseases.
research Angiogenesis: a Dynamic Balance of Stimulators and Inhibitors
Angiogenesis can be controlled by balancing stimulators like VPF/VEGF and inhibitors like TSP.
research Vitamin D Concentrations are Decreased in Patients with Alopecia Areata
People with Alopecia Areata have lower vitamin D levels.
research Methotrexate for maintenance of remission in ulcerative colitis
Methotrexate is not proven to maintain remission in ulcerative colitis.
research Establishment and characterization of a canine keratinocyte organoid culture system
A new method to study dog skin diseases using lab-grown skin cells was developed.
research Hirsutism and Health Related Quality of Life
Hirsutism worsens quality of life and mental health, and treatment with both medical help and therapy is most effective.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
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.
research Advances in Stem Cell Therapy: Specific Applications in the Treatment of Cutaneous Radiation Syndrome
Stem cell therapy improves healing and reduces pain in cutaneous radiation syndrome.
research LAM/TSC Cell Migration to Uterus in an Experimental Model of Lymphangioleiomyomatosis. Regulation by Anti-Epidermal Growth Factor Receptor Antibody and Rapamycin
Rapamycin and anti-EGFR antibody reduce LAM/TSC cell migration and blood vessel growth in the uterus.
research Analysis of changes in microRNA expression profiles in response to the troxerutin-mediated antioxidant effect in human dermal papilla cells
research Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
research Biomedical applications of organoids in genetic diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Evaluation of the Hemogram of Breast Cancer Patients Treated by Therapeutic Protocol Based on Immunohistochemical Analysis: A Retrospective Study
Treatment strategies for breast cancer affect blood health, causing issues like anemia and require nutritional counseling.
research Follicular unit extraction method of hair transplantation: Technique, advantages and limitations
The follicular unit extraction method for hair transplants is a technique with benefits and drawbacks.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Skin inflammation activates intestinal stromal fibroblasts and promotes colitis
Skin inflammation can worsen intestinal inflammation and colitis.
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 Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Mitochondrial dysfunction in metabolic syndrome and inflammatory skin disease
Mitochondrial dysfunction links metabolic syndrome and inflammatory skin diseases, suggesting targeted therapies and lifestyle changes.