September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
7 citations,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TAGX-0003 protected hair follicles and reversed alopecia areata in a mouse model.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
5 citations,
July 2015 in “Women's Health” The document concludes that diagnosing PCOS requires a thorough approach, considering various symptoms and risks, and calls for improved methods to identify PCOS types and prevent diabetes.
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.
86 citations,
July 2002 in “Clinical and Experimental Dermatology” FPHL is a common, age-related, genetic hair loss with unclear causes and limited treatment options.
16 citations,
December 2018 in “Clinical Biochemistry” The document concludes that more research is needed to fully understand the causes of PCOS.
11 citations,
August 2018 in “Endokrynologia Polska” Polish medical societies recommend personalized treatment for PCOS based on the patient's specific symptoms and use the Rotterdam criteria for diagnosis.
11 citations,
July 2019 in “International journal of gynaecology and obstetrics” Polycystic ovary syndrome (PCOS) is more common in urban areas, possibly due to lifestyle and diet, and ignoring it can lead to serious health issues.
5 citations,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
4 citations,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
February 2020 in “Research Square (Research Square)” Women with PCOS have worse physical health but similar mental health compared to those without PCOS.
The article concludes that better diagnosis and management of Polycystic Ovarian Syndrome are needed to improve women's health and prevent related diseases.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
12 citations,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
2 citations,
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A special foam called EG7 PTK-UR helps heal skin wounds better than other similar materials, working as well as a top-rated product and better than a polyester foam.
November 2022 in “Journal of Investigative Dermatology” Patients with ichthyosis often experience symptoms similar to psoriasis and atopic dermatitis, suggesting that targeted therapies could improve their condition.
49 citations,
September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
14 citations,
January 2012 in “Endocrine development” The conclusion is that a thorough approach is needed to diagnose and manage hyperandrogenism in teenage girls, recognizing its major psychological and health effects.
87 citations,
July 2018 in “Nursing Clinics of North America” PCOS is a common hormonal disorder in women, marked by symptoms like hair growth and menstrual issues, and requires personalized treatment.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
15 citations,
December 2018 in “Reproductive Biomedicine Online” Measuring the distance from the anus to the clitoris may moderately help diagnose polycystic ovary syndrome, especially in certain cases.
7 citations,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
3 citations,
July 2020 in “International Journal of Molecular Sciences” SCDSFs from zebrafish embryos are beneficial for treating cancer, regenerating tissues, and improving conditions like psoriasis and alopecia.
2 citations,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
January 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.