19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
February 2026 in “International Journal of Advanced Biochemistry Research” Hypothyroidism-related skin issues in dogs are most common in older male Labradors, causing hair loss, slow heart rate, and obesity.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
May 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PPARgamma is crucial for healthy hair follicles, and its loss causes scarring alopecia.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
1 citations
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January 2023 in “Elsevier eBooks” Phospholipases help maintain and restore skin and hair health, potentially leading to new treatments for related conditions.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
41 citations
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November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
October 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Rodent models of PCOS show some similar and some different lipid changes compared to humans.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
3 citations
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February 2025 in “Journal of Investigative Dermatology” Lipocartilage is a new type of tissue that affects hair growth and cartilage regeneration.
April 2018 in “Journal of Investigative Dermatology” Macrophages are more involved in Lichen planopilaris than in Frontal fibrosing alopecia.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
September 2021 in “CRC Press eBooks” Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
124 citations
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June 2020 in “Cell Stem Cell” Fat cells in the skin help start healing and form important repair cells after injury.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
January 2022 in “The Pan African medical journal” Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
January 2025 in “Indian Journal of Dermatopathology and Diagnostic Dermatology” Dermoscopy helps diagnose rare GLPLS in males.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
Erythropoietin overexpression disrupts hair growth and fat formation in mice.
11 citations
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April 2012 in “American Journal of Dermatopathology” Adenolipomas may develop from gland entrapment by fat tissue, showing complex and varied forms.
July 2025 in “Journal of Investigative Dermatology” Discoid lupus erythematosus involves immune activation and fibrosis around hair follicles, with shared pathways across humans, dogs, and mice, suggesting potential treatments for both humans and animals.