April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
April 2016 in “Journal of Investigative Dermatology” Wnt ligands, produced by dermal papilla cells, are essential for adult hair growth and regeneration.
158 citations
,
December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
56 citations
,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
1 citations
,
July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
1 citations
,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
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.
36 citations
,
September 2015 in “Forensic Science International: Genetics” Certain DNA variants can predict straight hair in Europeans but are not highly specific.
January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” AgK114 protein helps in hamster skin injury recovery.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
8 citations
,
February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.