November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
2 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
10 citations,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
6 citations,
October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
11 citations,
November 2012 in “Seminars in Cutaneous Medicine and Surgery” Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
4 citations,
September 2020 in “Andrologia” Oregano extract helps fix testis and sperm damage caused by finasteride.
11 citations,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
244 citations,
September 2008 in “Annual Review of Genomics and Human Genetics” The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
January 2024 in “Authorea (Authorea)” STK11 gene polymorphism does not predict metformin response in PCOS.
June 2022 in “Biomedical reports” STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
35 citations,
June 2005 in “The Milbank Quarterly” The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
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.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
29 citations,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
2 citations,
July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
1 citations,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
87 citations,
March 2011 in “Australasian Journal of Dermatology” Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
42 citations,
January 2018 in “Expert review of precision medicine and drug development” Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
11 citations,
July 2012 in “Current Opinion in Pediatrics” Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
February 2024 in “Curēus” Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
May 2023 in “JAMA network open” After a New York Times article talked about using low-dose oral minoxidil for hair loss, more people started getting this drug prescribed, but this trend didn't last long.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
June 2009 in “Mayo Clinic Proceedings” A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The model can effectively test gene functions and drug responses in human skin.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.