19 citations,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
18 citations,
September 2018 in “The Journal of Agricultural Science” Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
18 citations,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
17 citations,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
17 citations,
May 2014 in “Cell transplantation” Genetically modified stem cells from human hair follicles can lower blood sugar and increase survival in diabetic mice.
17 citations,
July 1994 in “Journal of Dermatological Science” The cause of alopecia areata is likely a mix of genetics, immune system issues, and environmental factors, with more research needed to understand it fully.
16 citations,
January 2018 in “International journal of trichology” Genetics and nutritional deficiencies are key factors in premature graying of hair.
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,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
15 citations,
November 2012 in “International Journal of Dermatology” The conclusion is that hair loss from CCCA may be genetic and not solely caused by hair grooming practices.
15 citations,
April 2003 in “Journal of dermatology” Alopecia areata causes hair loss due to an immune attack on hair follicles, influenced by genetics and environment.
15 citations,
January 1987 in “Electrophoresis” Human head hair proteins can be typed into eight distinct patterns, useful for genetic and forensic investigations.
14 citations,
April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
13 citations,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
13 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
12 citations,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.
12 citations,
November 2014 in “Bioscience, Biotechnology, and Biochemistry” Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
12 citations,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
11 citations,
July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
11 citations,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
11 citations,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
11 citations,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
11 citations,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
9 citations,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
9 citations,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
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.
8 citations,
April 2018 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic variations can make people more likely to experience hair loss and low white blood cell count from azathioprine.
7 citations,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
7 citations,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
6 citations,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.