12 citations
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February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
119 citations
,
September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
April 2025 in “Archives of Dermatological Research” H19 may help prevent hair loss by keeping hair cells young.
19 citations
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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.
40 citations
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February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
12 citations
,
August 2020 in “Frontiers in Genetics” H19 boosts hair growth potential by activating Wnt signaling, possibly helping treat hair loss.
238 citations
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May 1989 in “Journal of Investigative Dermatology” 12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
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.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
40 citations
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
441 citations
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May 1996 in “Journal of Cell Science” Keratin 19 helps identify skin stem cells, with its presence varying by body location, age, and culture stage.
5 citations
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June 2008 in “British Journal of Dermatology”
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
13 citations
,
December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
46 citations
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December 1998 in “Journal of Biological Chemistry” Keratin 19 forms less stable and shorter filaments than keratin 14, giving unique traits to certain skin cells.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
49 citations
,
November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
19 citations
,
September 2013 in “Psychoneuroendocrinology” Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
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.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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.
115 citations
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August 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” Modulating Cytochrome P450 activity could help develop new skin disease treatments.
January 2006 in “Chieh P'ou Hsueh Pao” Beta-catenin boosts hair follicle cell growth by increasing c-myc expression.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.