November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
31 citations
,
October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
50 citations
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August 2019 in “Cell Communication and Signaling” NFAT5 triggers atherosclerosis under stress by activating inflammation in blood vessels.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
December 2014 in “Journal of Biomedical Research” Recombinant thymosin β4 promotes blood vessel growth and reduces muscle damage.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
5 citations
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February 2016 in “Genetic Testing and Molecular Biomarkers” Hair loss is significantly linked to lower levels of certain genes in hair follicles.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
17 citations
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April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
30 citations
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October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
101 citations
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June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
58 citations
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June 2000 in “The Journal of Steroid Biochemistry and Molecular Biology” Different types of androgens bind differently to two receptors, AR1 and AR2, in Atlantic croaker's brain and ovarian tissues, suggesting these receptors may control different androgen actions in fish.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
January 2026 in “Biochemical Pharmacology” MitoQ helps protect hair cells from damage in hair loss by boosting a protective enzyme.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Activating mitophagy may help manage a key immune response involved in the hair loss condition alopecia areata.
9 citations
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February 2023 in “Genes” lncRNAs influence cashmere fiber traits like diameter and color in goats.
25 citations
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January 2017 in “Steroids” Allopregnanolone increases growth and changes gene activity in human brain cancer cells.
January 2017 in “Brazilian Journal of Pharmaceutical Sciences” Arteannuin might work against cancer and Alzheimer's by targeting neprilysin.