47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
January 2016 in “Research Explorer (The University of Manchester)” Activating the Eda/Edar pathway improves wound healing by enhancing hair follicle growth.
17 citations
,
December 2006 in “Gene Expression Patterns” Scube3 gene affects mouse embryo growth in multiple areas, but needs more research.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
55 citations
,
September 2014 in “Development” Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
April 2026 in “Amino Acids” Polyamines are crucial for skin tumor development, and inhibiting them can prevent tumors.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
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.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
117 citations
,
August 1999 in “Nature Genetics” 13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
32 citations
,
September 2003 in “European journal of oral sciences” People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
July 2022 in “Dermatology practical & conceptual” Henna ointment may help reduce itching and improve wound healing in patients with epidermolysis bullosa.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
February 2009 in “Journal of Investigative Dermatology” EGFR is essential for organized skin nerve growth and branching.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
February 2026 in “Applied Biosciences” The study found potential new DNA patterns in fertility genes, but further testing is needed.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
5 citations
,
October 2023 in “Forests” Ginkgo biloba has high genetic diversity, useful for future breeding.
August 2016 in “Journal of Investigative Dermatology” The enzyme CD73 helps control human hair growth and could be targeted to treat hair growth disorders.
9 citations
,
July 2020 in “Cell Proliferation” Epiregulin can help hair grow and may be useful for treating hair loss.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.