18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
21 citations
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January 2024 in “Science Immunology” Regulatory T cells protect hair follicle stem cells by maintaining immune privilege in the skin.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
1 citations
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July 2025 in “Frontiers in Genetics” FilaggrinHigh melanomas have active FGFR signaling and weak GNA14 and Th1 signatures.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing certain immune cells in mice causes their hair to enter the growth phase earlier than usual.
January 2003 in “Hepatology” 16 citations
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
5 citations
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November 2013 in “Journal of Investigative Dermatology” The glucocorticoid receptor helps protect skin from tumors and other issues.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
9 citations
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December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
63 citations
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May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
3 citations
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October 1994 in “Journal of Dermatological Science” The new antibody, TYHF-1, specifically targets certain hair-related structures.
21 citations
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May 2019 in “Pediatrics in review” People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
December 2024 in “Chemical Senses” Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
11 citations
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August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
2 citations
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May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
April 2018 in “Journal of Investigative Dermatology” Immune cells might contribute to hair loss caused by a specific mutation.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
127 citations
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January 2000 in “Journal of Investigative Dermatology” Cytotoxic T cells cause hair loss in chronic alopecia areata.
12 citations
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March 2016 in “BBA clinical” Increased Toll-like receptors in blood cells may contribute to alopecia areata and could be a target for new treatments.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
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.
October 2009 in “The American Journal of Gastroenterology” Excessive selenium intake can cause liver damage.
14 citations
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January 2005 in “Pediatric Dermatology” UVA1-light therapy successfully treated a child's skin condition, mycosis fungoides.
January 2026 in “Journal of Investigative Dermatology” Special cells can help regrow hair in alopecia areata.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.