January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
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.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
28 citations
,
December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
November 2022 in “Journal of Investigative Dermatology” Deleting MPZL3 increases skin oil production and reduces body fat.
2 citations
,
July 2025 in “Cells” Platelet lysate is better than fetal bovine serum for growing stem cells and healing wounds.
December 2021 in “Figshare” BBS7 is essential for maintaining healthy gums and teeth.
Platelet-rich plasma improves skin flap survival by reducing tissue death.
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
4 citations
,
May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
2 citations
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March 2023 in “Biomedicine & pharmacotherapy” Platelet lysate effectively promotes hair growth and improves hair thickness in people with androgenetic alopecia.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
December 2021 in “Figshare” BBS7 is crucial for maintaining healthy gums through Shh signaling.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
10 citations
,
April 2008 in “Journal of Pediatric Surgery” P-selectin is not the only factor that prevents scarring in fetal wound healing in mice.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
52 citations
,
May 2011 in “Journal of Neuroendocrinology” PEA boosts allopregnanolone production and reduces oxidative stress in brain cells.
7 citations
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January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
February 2024 in “Veterinary sciences” Canine pemphigus foliaceus involves significant immune activity and shares similarities with human pemphigus.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
6 citations
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September 2021 in “Autophagy” Autophagy prevents early aging and maintains lipid and pheromone balance in mouse glands.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
December 2021 in “Figshare” BBS7 is essential for healthy gums by supporting cell function and blood flow.