29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
17 citations,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
Lower LDL-c levels predict higher COVID-19 mortality.
June 2017 in “Journal of clinical and investigative dermatology” Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
44 citations,
September 2020 in “International Journal of Molecular Sciences” New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
4 citations,
June 2017 in “Anais Brasileiros De Dermatologia” Aryl hydrocarbon receptor overexpression found in miniaturized hair follicles in female hair loss.
1 citations,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
August 2024 in “Cosmetics” Personalized treatments for hair loss are becoming more effective by using genetic information.
62 citations,
April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
20 citations,
June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
19 citations,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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.
July 2020 in “Comparative medicine” NSG mice had the most mites, and genetic factors affect immune response and susceptibility.
May 2013 in “Springer eBooks” Skin problems in the elderly are unique and may indicate other diseases, involving changes in skin, hair, nails, and increased cancer risk.
96 citations,
January 1997 in “Clinics in Dermatology” Pregnancy can cause skin pigmentation, stretch marks, and changes in hair, nails, and sweat glands, with most resolving after birth.
56 citations,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
52 citations,
June 2009 in “Current Opinion in Endocrinology, Diabetes and Obesity” The document concludes that hair transplantation and gene therapy may be important for future hair loss treatment.
45 citations,
August 2019 in “Dermatologic Therapy” Hair loss treatments work better with lifestyle changes.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
18 citations,
July 2019 in “Clinical Endocrinology” Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
15 citations,
October 2014 in “Journal of Investigative Dermatology” New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
12 citations,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
7 citations,
January 2017 in “American Journal of Biological Anthropology” Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
6 citations,
May 2020 in “Scientific reports” Researchers identified genes and proteins that may influence wool thickness in sheep.
2 citations,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.