January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
3 citations
,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
46 citations
,
November 2019 in “Journal of Integrative Plant Biology” CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.
April 2026 in “Frontiers in Medicine” Farudodstat may help prevent hair loss in alopecia areata by stopping immune attacks on hair follicles.
76 citations
,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
January 2021 in “Medical Research Archives” Genetically modified rats help reveal how vitamin D affects bone and skin health.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
36 citations
,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
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.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
1 citations
,
January 2019 in “Journal of Research in Medical Sciences” Fewer GGC sequences in the androgen receptor gene improve finasteride treatment for hair loss.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
10 citations
,
August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
September 2017 in “Journal of Dermatology & Cosmetology” Hepatitis C treatment may cause frontal fibrosing alopecia.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
12 citations
,
August 2011 in “Asian-Australasian Journal of Animal Sciences” KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
January 2016 in “Human & Experimental Toxicology” A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.
59 citations
,
September 2007 in “Biochemical and Biophysical Research Communications” The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.