2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
April 2018 in “Journal of Investigative Dermatology” FOL-005, a hair growth promoter, acts locally on mouse skin where injected and could be a promising hair loss treatment.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
58 citations,
December 2020 in “Mayo Clinic Proceedings” The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
17 citations,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
4 citations,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
2 citations,
April 2018 in “Journal of Investigative Dermatology” Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
April 2018 in “Journal of Investigative Dermatology” Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
January 2014 in “S. Karger AG eBooks” Type 2 diabetes in youth is increasing, with high treatment failure rates and more severe than Type 1; certain drugs can lower lipid levels effectively with varying side effects, and apples may benefit heart health like statins but with fewer side effects.
30 citations,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
25 citations,
March 2012 in “Journal of Dermatological Science” Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
46 citations,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
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.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
15 citations,
April 2016 in “Hormones” 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.
3 citations,
February 2021 in “FEBS open bio” Camellia japonica extract may improve scalp health and promote hair growth.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
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.
January 2017 in “Journal of Investigative Dermatology Symposium Proceedings” The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.
26 citations,
August 2018 in “Journal of Investigative Dermatology” Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.
23 citations,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
21 citations,
November 2021 in “Cells” Hedgehog pathway inhibitors can treat certain aggressive cancers but face limitations like resistance and side effects.