24 citations
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January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
18 citations
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September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
August 2016 in “Journal of Investigative Dermatology” Scalp psoriasis features reversible hair loss and specific immune activation, with no significant hair follicle damage.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
32 citations
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February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
1 citations
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December 2018 in “Veterinary dermatology” The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
46 citations
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September 2007 in “Journal of Investigative Dermatology” 28 citations
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that a key immune pathway protecting hair follicles is reduced in a mouse model of scarring hair loss.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
54 citations
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May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
February 2023 in “JAAD case reports” Reducing immunosuppression and using antiviral creams improved the woman's skin condition.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
5 citations
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November 2024 in “Journal of Clinical Immunology” Dupilumab effectively controls symptoms in infants with Netherton syndrome.
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
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
January 1999 in “Praxis sociológica” Melanocyte stem cells can become melanoma, resembling human melanoma.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
5 citations
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November 2011 in “Journal of Cutaneous Medicine and Surgery” Hairless dogs can be used to study human hypertrophic scars.
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.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
2 citations
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February 2021 in “Journal of comparative pathology” Sheep with chronic Sarcoptes scabiei dermatitis have altered keratin expression in their skin.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.