5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
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.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
24 citations
,
January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
December 1981 in “ビジネスコミュニケ-ション” TRPV1 affects sebaceous gland function and could help treat acne.
9 citations
,
June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
9 citations
,
November 2021 in “Frontiers in Cell and Developmental Biology” PBX1 helps reduce aging and cell death in hair follicle stem cells by decreasing DNA damage, not by improving DNA repair.
18 citations
,
December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
18 citations
,
September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
29 citations
,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
21 citations
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October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
38 citations
,
September 2021 in “Signal Transduction and Targeted Therapy” Genetic differences affect COVID-19 severity and treatment development.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
12 citations
,
November 2024 in “Journal of Ovarian Research” Certain inflammatory factors may increase or decrease the risk of developing PCOS.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
February 2025 in “Biomolecules” RORA boosts autophagy in hair follicle stem cells, potentially aiding hair growth.
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.