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.
May 2023 in “GSC biological and pharmaceutical sciences” Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
15 citations
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January 1991 in “Mammalian Genome” 4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
December 2024 in “European journal of medical research”
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.
1 citations
,
September 2023 in “Clinical, cosmetic and investigational dermatology” Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
4 citations
,
February 2018 in “EMBO reports” New DNA analysis and machine learning are advancing forensic science, improving accuracy and expanding into non-human applications.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
26 citations
,
February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
7 citations
,
June 2015 in “EMBO Reports” Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
5 citations
,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
July 2024 in “Egyptian Journal of Medical Human Genetics” These gene variations are not linked to alopecia areata in Egyptians.
6 citations
,
January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
48 citations
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May 2015 in “PLOS ONE” DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.