36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
9 citations,
September 2011 in “Cutaneous and Ocular Toxicology” Using 2% minoxidil for baldness treatment might cause vision distortion due to fluid build-up under the retina.
30 citations,
April 2007 in “Dermatologic Clinics” The document concludes that new treatments are needed to better manage acne and reduce side effects related to current therapies.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
69 citations,
September 1991 in “Journal of Surgical Research” Understanding how fetal wounds heal could help improve healing in adults.
July 2002 in “Dermatologic Surgery” Understanding the scalp's five-layer structure is crucial for better surgical outcomes and fewer complications.
22 citations,
March 2021 in “Journal of Cutaneous Medicine and Surgery” Ultrasound is a useful, non-invasive tool in dermatology for diagnosing skin conditions and guiding treatments, but it has some limitations.
224 citations,
February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” ERG increases SOX9, promoting prostate cancer growth and invasion.
20 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
11 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Taking Propecia might lead to the development of cataracts.
5 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
13 citations,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
9 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
1 citations,
March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
February 2010 in “Journal of The American Academy of Dermatology” A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
4 citations,
December 2014 in “PubMed” Pre-operative hormone treatment for hypospadias surgery might improve outcomes, but more research is needed to confirm.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
58 citations,
November 2018 in “Cochrane library” Oral isotretinoin may slightly improve acne but increases the risk of side effects like dry lips and skin; more research is needed to understand its full risks and benefits.
2 citations,
January 2011 in “Elsevier eBooks” Early treatment of acne is crucial to prevent scarring and psychological effects.
14 citations,
September 2015 in “Expert Opinion on Therapeutic Targets” The conclusion is that while oral contraceptive pills are effective for PCOS-related high androgen levels, new treatments with fewer side effects are needed.
45 citations,
April 2018 in “Nature Reviews Urology” Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
77 citations,
February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.