Mutations in specific genes cause different types of ectodermal dysplasias.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
16 citations
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May 2000 in “Endocrinology” A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
GPC1 is important for hair growth by helping blood vessels form around hair follicles.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
July 2024 in “New Phytologist” PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
December 2024 in “Journal of Cosmetic Dermatology” ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
20 citations
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October 2005 in “Archives of Dermatological Research” February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
March 2024 in “Preprints.org” Activated protein C helps protect mice from radiation damage.
1 citations
,
February 1991 in “Journal of Biological Chemistry”
23 citations
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December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
195 citations
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April 2005 in “Journal of biological chemistry/The Journal of biological chemistry” The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
5 citations
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October 2022 in “Biology” CAP1 helps Arabidopsis plants grow better under ammonium stress.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
September 2023 in “Frontiers in Medicine” The scalp fat tissue of men with hair loss shows changes in gene activity that may contribute to their condition.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
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.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.