688 citations
,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
85 citations
,
August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
1 citations
,
July 2025 in “Frontiers in Genetics” FilaggrinHigh melanomas have active FGFR signaling and weak GNA14 and Th1 signatures.
January 2025 in “Scholarly Commons (University of Pennsylvania)” UTX is important for skin health and its loss can lead to skin issues, especially in females.
29 citations
,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
8 citations
,
November 2024 in “EMBO Molecular Medicine” Targeting JAK-STAT1 can reduce inflammation and promote hair growth in conditions linked to EGFR deficiency.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
9 citations
,
November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
7 citations
,
July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
9 citations
,
October 2025 in “MedComm” PROTACs offer new ways to treat hard-to-target diseases, with promising drugs for cancer in advanced trials.
KRTAP6 genes affect wool quality in sheep.
March 2010 in “Ejc Supplements” ROR-alpha may increase the growth of certain breast cancer cells by boosting aromatase, which could affect breast cancer prognosis.
10 citations
,
September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
31 citations
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
30 citations
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July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
6 citations
,
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
6 citations
,
October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.