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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
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September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
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January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
January 2003 in “Hepatology”
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
Deleting Twist1 in skin cells reduces UVB-induced skin cancer risk.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
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November 2020 in “American Journal Of Pathology” Integrin β1 is crucial for liver structure and function, preventing fibrosis.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A peptide from hair follicle stem cells promotes hair growth by activating specific skin cells.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.
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July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
July 2017 in “Cancer Research” Polyamines help repair DNA breaks and may influence cancer development.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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November 2007 in “Gene Expression Patterns” Trps1 plays a key role in hair follicle development and cycling.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
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.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
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July 2019 in “PLoS ONE” Deleting podoplanin in mice promotes hair growth by enhancing cell migration.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.