24 citations
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September 2023 in “Science Advances” Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
1 citations
,
April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
22 citations
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November 2017 in “Scientific Reports” The pituitary gland functions normally even after losing most SOX2+ stem cells.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
89 citations
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May 2005 in “Stem Cells” Mouse skin has special cells in the epidermis that decrease with age and are linked to keratinocyte stem cells.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
April 2023 in “Journal of Investigative Dermatology” Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
25 citations
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January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
January 2024 in “Frontiers in plant science” The zinc finger protein 3 in Arabidopsis thaliana reduces plant growth and root hair development.
14 citations
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May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
January 2000 in “Medical Entomology and Zoology”
43 citations
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December 2008 in “Molecular biology of the cell” Disrupting Smad4 in mouse skin causes early hair follicle stem cell activity that leads to their eventual depletion.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
21 citations
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October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
52 citations
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October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
54 citations
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October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.