25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
14 citations,
July 2019 in “Experimental and Molecular Medicine” Nanog gene boosts stem cells, helps hair growth, and may treat hair loss.
6 citations,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
6 citations,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
6 citations,
January 2010 in “Neoplasma” Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
6 citations,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
5 citations,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
2 citations,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
1 citations,
September 2023 in “Genes” DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations,
July 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Keratin gene expression helps understand different types of skin cells and their development, and should be used carefully as biological markers.
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
September 2022 in “Canadian journal of animal science” Certain gene variations are linked to the thickness of cashmere goat hair.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
96 citations,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
62 citations,
April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
25 citations,
September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.