15 citations,
August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
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.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
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.
414 citations,
August 2005 in “Nature” Activating TERT in mice skin boosts hair growth by waking up hair follicle stem cells.
218 citations,
September 2012 in “Gastroenterology” Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
160 citations,
April 2008 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” DHT in the human prostate is produced through multiple pathways, not just from testosterone.
94 citations,
April 2018 in “Nature Genetics” New genetic locations explain much of hair color variation in Europeans.
68 citations,
April 2014 in “Journal of Investigative Dermatology” Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
49 citations,
June 2019 in “eLife” Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
44 citations,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
41 citations,
February 2021 in “Translational research” Non-coding RNAs could help detect and treat radiation damage.
30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
18 citations,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
10 citations,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
9 citations,
August 2021 in “International journal of molecular sciences” PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
7 citations,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
6 citations,
April 2019 in “Nutrients” Biotin is important for keeping zinc levels balanced in the skin and its lack can cause hair loss.
6 citations,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
5 citations,
November 2022 in “Animal Genetics” Genomic research can help improve the quality and production of natural fibers in animals.
4 citations,
January 2023 in “Frontiers in Immunology” Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
3 citations,
March 2023 in “International journal of molecular sciences” Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
3 citations,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
1 citations,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
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.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
August 2023 in “International Journal of Molecular Sciences” Liposomes show promise for delivering CRISPR for gene editing but face challenges like delivery efficiency and safety concerns.
June 2022 in “Authorea (Authorea)” Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.