449 citations
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December 2005 in “The Plant Cell” BIK1 gene helps plants resist some pathogens but makes them more vulnerable to others.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
7 citations
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March 2023 in “The Journal of Biochemistry” LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
April 2026 in “Journal of Investigative Dermatology” ZNF750 helps keep hair follicles healthy and prevents skin inflammation.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
April 2016 in “Journal of Investigative Dermatology” The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
17 citations
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February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
2 citations
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April 2023 in “Diabetes Metabolic Syndrome and Obesity” 2h-ICPR can help screen for insulin antibodies in type 2 diabetes patients.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
33 citations
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September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
January 2025 in “eScholarship@McGill (McGill)” Jag2 is essential for proper skin cell differentiation and organization.
September 2017 in “Journal of Investigative Dermatology” The Siah1 and Siah2 genes are active in mouse skin development and hair growth, especially right after birth.
15 citations
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July 2013 in “Cell Reports” Indian Hedgehog helps control skin cell growth and protects against aggressive skin cancer.
April 2010 in “Cancer Research” Basal cell carcinomas may use IDO to protect themselves from the immune system.
September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
1 citations
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October 2021 in “Journal of Investigative Dermatology”
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
1 citations
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August 2025 in “International Journal of Molecular Sciences” Nutraceutical insulin-sensitizing agents may help treat skin conditions like psoriasis and acne.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
September 2016 in “Journal of Dermatological Science” Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)” QLT0267 stops hair follicle cell growth and movement.
27 citations
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November 1991 in “Journal of Investigative Dermatology”
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
October 2021 in “Experimental Dermatology” Certain genes and proteins may help diagnose and treat primary cicatricial alopecia.