2 citations
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April 2018 in “Journal of Investigative Dermatology” Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
1 citations
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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.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
222 citations
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August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
May 2024 in “World Journal Of Advanced Research and Reviews” Low iron levels are strongly linked to chronic hair loss in women.
February 2023 in “Indian journal of private psychiatry/Indian Journal of Private Psychiatry” Valproic acid can rarely cause reversible nail discoloration.
October 2025 in “Journal of the Endocrine Society” Low estrogen due to poor nutrition can lead to non-alcoholic fatty liver disease.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
100 citations
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October 1986 in “Clinical Endocrinology” Alopecia indicates more severe resistance to 1,25-dihydroxyvitamin D.
1 citations
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January 2018 in “Journal of clinical & experimental dermatology research” The study found no link between vitamin D deficiency and psoriasis but suggests more research is needed.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
9 citations
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
4 citations
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September 2010 in “Medical Hypotheses”
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
The role of 5α-reductase-3 in prostate cancer is unclear and needs more research.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
31 citations
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September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
6 citations
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July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
February 2013 in “Journal of The American Academy of Dermatology” Using hair loss drugs finasteride and dutasteride may cause sexual side effects.
63 citations
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January 1971 in “Acta Medica Scandinavica” Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
3 citations
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January 2009 in “Annals of King Edward Medical University” Most urban, well-fed people in Pakistan have severe vitamin D deficiency and show symptoms.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
August 2024 in “Research Square (Research Square)” Using 5-alpha reductase inhibitors may lower the risk of breast cancer in females.