36 citations,
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.
29 citations,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
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.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
23 citations,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
23 citations,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Genetic discoveries are leading to new treatments for alopecia areata.
22 citations,
September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
20 citations,
October 2017 in “Stem Cell Reports” Alkaline Ceramidase 1 prevents early hair loss in mice by keeping hair follicle stem cells balanced.
18 citations,
January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
16 citations,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
11 citations,
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
10 citations,
July 2022 in “Journal of Medicinal Chemistry” Adding a second method to PROTACs could improve cancer treatment.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
9 citations,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
8 citations,
November 2013 in “PLOS ONE” Cells with active Wnt signaling are less likely to turn into cancer when exposed to a cancer-causing gene.
5 citations,
June 2012 in “Journal of Investigative Dermatology” A new mouse model for vitiligo helps study immune responses and potential treatments.
3 citations,
August 2023 in “Genes” The document concludes that various signaling pathways and genetic factors are crucial for chicken feather development, affecting poultry quality.
3 citations,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
2 citations,
November 2022 in “Bioscience Reports” Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
2 citations,
April 2022 in “Genes” The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
November 2024 in “The Journal of Cell Biology” Basement membrane changes are crucial for hair follicle development.
Curcuma aeruginosa Roxb. may help treat hair loss by affecting specific biological pathways.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
December 2022 in “Frontiers in Pharmacology” Tianma Gouteng decoction may help prevent hair loss and promote hair growth.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.