March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
[object Object] 53 citations,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
17 citations,
April 2021 in “Frontiers in Pharmacology” Activating Nrf2 can help protect against hearing loss.
12 citations,
April 2019 in “Nature protocols” Scientists created a functional 3D skin system from stem cells that can be transplanted into wounds.
3 citations,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
3 citations,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
2 citations,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
1 citations,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists improved how to make skin-like structures from stem cells using special gels and a device that controls growth signals, leading to better hair and skin features.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
April 2016 in “Journal of Investigative Dermatology” Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.
April 2023 in “Journal of Investigative Dermatology” A new pain-measuring system using sensors and AI can effectively detect pain in mice, which may help assess pain in humans and develop treatments.
14 citations,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
[object Object] 3 citations,
May 2023 in “Clinical drug investigation” JAK inhibitors for alopecia areata are linked to minor side effects like headache and acne, but not to an increased risk of serious adverse events.
89 citations,
March 2018 in “The Journal of Dermatology” Trichoscopy helps diagnose and monitor alopecia areata by looking at a combination of specific hair and scalp features.
18 citations,
August 2012 in “Journal of The American Academy of Dermatology” Estrogen therapy helped regrow hair in a bald man.
13 citations,
April 2020 in “Dermatology and therapy” Cyclosporine combined with corticosteroids is more effective for severe alopecia areata than cyclosporine alone.
January 2018 in “General internal medicine and clinical innovations” Busulfan/cyclophosphamide and total bone irradiation are equally effective for AML transplants.
117 citations,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
17 citations,
April 2015 in “Tropical Journal of Pharmaceutical Research” Asiasari Radix et Rhizoma is safe and has potential for new drug development due to its therapeutic properties.
15 citations,
November 2015 in “Pharmacopsychiatry” α-Blockers and 5-ARIs for BPH can cause sexual dysfunction, including erectile and ejaculatory issues.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
4 citations,
February 2019 in “Biological Trace Element Research” Chromium salts may help with insulin sensitivity in PCOS, but more research is needed to confirm their overall effectiveness and safety.
3 citations,
August 2013 in “Tropical Journal of Pharmaceutical Research” Finasteride nano-emulsion optimized using chemometric approach.
1 citations,
May 2018 in “Tropical Journal of Pharmaceutical Research” Intense pulsed-light therapy helps mice grow hair by activating a specific growth pathway.
Understanding genetics is crucial for treating heart and skin diseases.