2 citations
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February 2024 in “Medicine” A mutation in the IL2RA gene increases the risk of alopecia areata.
1 citations
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June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
71 citations
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June 2005 in “Journal of Investigative Dermatology” PAD enzymes play a key role in hair growth and structure.
August 2016 in “Journal of Investigative Dermatology” The enzyme CD73 helps control human hair growth and could be targeted to treat hair growth disorders.
Alopecia areata patients have higher levels of certain immune receptors, suggesting new treatment possibilities.
April 2023 in “Journal of Investigative Dermatology” Higher PD-1 levels are linked to fewer immune cells in hair follicles in alopecia areata.
63 citations
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May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
6 citations
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
26 citations
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May 2020 in “JCI Insight” Alopecia areata involves specific immune cells, offering potential treatment targets.
38 citations
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February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
15 citations
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April 2002 in “British Journal of Dermatology” Hairless gene not strongly linked to baldness.
4 citations
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February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
175 citations
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August 1997 in “Nature Genetics” 5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
81 citations
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January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
34 citations
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March 2007 in “Biochemical and Biophysical Research Communications” Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
April 1977 in “Pediatric Research” 124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
10 citations
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May 2020 in “International Journal of Molecular Sciences” Hair follicles can be used to study gene mutations in Stargardt disease.