August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” TRα and CRABPII genes change their activity levels during goat fetal skin development.
October 1984 in “Immunology Today” 70 citations
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December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
May 2023 in “Frontiers in Endocrinology” Blocking CRF1 receptors improved male hormone levels and reduced testicular tumor size in men with a specific adrenal condition.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
3 citations
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June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
January 2024 in “OPAL (Open@LaTrobe) (La Trobe University)” TRPV3 channels are involved in skin processes and are affected by shear stress, influencing itch and mechanotransduction.
341 citations
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November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
April 2018 in “Journal of Investigative Dermatology” CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
2 citations
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July 2021 in “Biochemical and Biophysical Research Communications” CTHRC1 helps hair grow back, and plantar dermis mixture boosts it.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
59 citations
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
January 2015 in “DukeSpace (Duke University)” Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
21 citations
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December 1994 in “Journal of Investigative Dermatology” November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
1 citations
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November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
13 citations
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June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.