April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
7 citations
,
January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
December 2017 in “Journal of Cosmetic Dermatology” Researchers found certain genes are overactive and others are underactive in men with early balding, which could help create new treatments.
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.
166 citations
,
July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
688 citations
,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
γδTregs may help treat autoimmune diseases like alopecia areata by promoting hair regrowth and reducing immune attacks.
2 citations
,
May 2022 in “Research Square (Research Square)” KGF-1 135 is a stable and effective alternative for treating oral mucositis.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
18 citations
,
July 2016 in “Medicine” Wnt/β-catenin and TGF-β pathways affect hair loss, and activating Wnt/β-catenin could be a potential treatment.
4 citations
,
February 2016 in “Clinical Pharmacology & Therapeutics” Hair follicle samples effectively show how well the drug MK-0752 targets and engages with the Notch pathway.
1 citations
,
April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
7 citations
,
January 2009 in “BMJ Case Reports” Gefitinib can cause slower, finer, brittle, and curly scalp hair.
134 citations
,
January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
2 citations
,
May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
49 citations
,
August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.