210 citations,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
60 citations,
July 2018 in “Circulation” Low testosterone can cause a heart rhythm problem in men, but fixing it can prevent the issue.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
15 citations,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
2 citations,
March 2022 in “Journal of Personalized Medicine” Personalized medicine is important for treating skin disorders, with new treatments and connections to hormones and genetics being explored.
April 2024 in “Frontiers in endocrinology (Lausanne)” Melatonin improved secondary hair growth in goats but didn't affect primary hair density or litter size.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
January 2021 in “Research Square (Research Square)” STAT3 reduces FST gene activity and cell growth, affecting hair development and wool quality.
January 2020 in “JAAD case reports” Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
180 citations,
January 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D Receptor is crucial for normal skin and hair growth.
139 citations,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
26 citations,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
13 citations,
September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
9 citations,
May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
2 citations,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
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.
August 2024 in “Archives of Dermatological Research” Certain genetic variants and pathways are linked to hair loss.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
101 citations,
September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
91 citations,
December 2000 in “The journal of cell biology/The Journal of cell biology” Scientists successfully created mouse hair proteins in the lab, which are stable and similar to natural hair.
85 citations,
January 2018 in “Cell stem cell” Different signals work together to change gene activity and guide hair follicle stem cells to become specific cell types.
73 citations,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
68 citations,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
50 citations,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
43 citations,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.