25 citations,
March 2012 in “Journal of Dermatological Science” Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
23 citations,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Genetic discoveries are leading to new treatments for alopecia areata.
19 citations,
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.
14 citations,
April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
13 citations,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
13 citations,
February 2010 in “Stem Cell Reviews and Reports” Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
12 citations,
January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
9 citations,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
5 citations,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
5 citations,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
5 citations,
January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
4 citations,
May 2021 in “The American Journal of Surgical Pathology” Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
4 citations,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
2 citations,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
1 citations,
January 2023 in “Frontiers in genetics” Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
1 citations,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
1 citations,
January 2017 in “Evolutionary studies” Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
March 2024 in “Agriculture” CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
November 2008 in “Medical & surgical dermatology” A device was made in 2008 to measure hair loss severity. Other findings include: frizzy mutation in mice isn't related to Fgfr2, C/EBPx marks preadipocytes, Cyclosporin A speeds up hair growth in mice, blocking plasmin and metalloproteinases hinders healing, hyperbaric oxygen helps ischemic wound healing, amniotic membranes heal wounds better than polyurethane foam, rhVEGF165 from a fibrin matrix improves tissue flap viability and induces VEGF-R2 expression, and bFGF enhances wound healing and reduces scarring in rabbits.
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
93 citations,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
80 citations,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
47 citations,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
30 citations,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.