49 citations,
June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
49 citations,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
31 citations,
July 2012 in “Journal of Lipid Research” ACBP is crucial for healthy skin in mice.
30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
7 citations,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
6 citations,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
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.
3 citations,
July 2023 in “International journal of molecular sciences” Stress may contribute to hair loss in alopecia areata by affecting immune responses and cell death in hair follicles.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
1 citations,
April 2024 in “Science Advances” Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
277 citations,
February 2013 in “Science Signaling” Mitochondrial reactive oxygen species are essential for skin and hair development.
166 citations,
November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
143 citations,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
56 citations,
March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
41 citations,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
36 citations,
October 2021 in “Frontiers in Endocrinology” Insulin resistance and high male hormone levels are major causes of Polycystic Ovary Syndrome.
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.
20 citations,
October 2017 in “Stem Cell Reports” Alkaline Ceramidase 1 prevents early hair loss in mice by keeping hair follicle stem cells balanced.