8 citations
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April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
64 citations
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April 1992 in “Differentiation” Sciellin is a protein that helps form protective layers in skin, hair, and nails.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
56 citations
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January 2004 in “Journal of the American Academy of Dermatology” Cyclosporine can cause a unique skin condition called "cyclosporine-induced folliculodystrophy."
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
81 citations
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February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
23 citations
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January 2024 in “Nature Immunology” γδ T cells adapt uniquely to different tissues in mice.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
Dual TCR Treg cells are common in various mouse tissues and show diverse characteristics.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
6 citations
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May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
16 citations
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March 2017 in “Oncotarget” SOCS3 treatment can prevent hair loss by stopping harmful immune responses.
1 citations
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December 2013 in “Balkan Journal of Medical Genetics” Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
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.
77 citations
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February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.