18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
May 2022 in “The FASEB Journal” Finasteride may help treat Neutrophil Actin Dysfunction by reducing LSP1 gene activity.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
2 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
10 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” New laser particles can track thousands of cells in 3D models, improving single-cell analysis.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
28 citations
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June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
32 citations
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July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
17 citations
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September 2014 in “PLoS ONE” SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
4 citations
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January 2025 in “The Journal of Cell Biology” Ceramide Synthase 4 is crucial for maintaining hair follicle stem cells and preventing hair loss.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
1 citations
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October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
1 citations
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August 2021 in “Journal of Investigative Dermatology” ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
33 citations
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June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
171 citations
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June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
2 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
15 citations
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October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.