80 citations,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
7 citations,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
64 citations,
November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
22 citations,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
40 citations,
June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” FA2H is essential for normal fur and sebum production in mice.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
451 citations,
March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
223 citations,
September 2018 in “Rheumatology” JAK inhibitors are effective in treating various immune-related diseases, not just rheumatoid arthritis.
165 citations,
June 2007 in “European Journal of Cell Biology” Hair follicle stem cells are key for hair and skin regeneration, can be reprogrammed, and have potential therapeutic uses, but also carry a risk of cancer.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
25 citations,
May 2003 in “Expert Opinion on Therapeutic Patents” Steroid Sulfatase inhibitors show promise in treating hormone-dependent disorders like cancers, hair loss, and acne, with 667COUMATE being a potential candidate for breast cancer treatment trials.
5 citations,
March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
3 citations,
November 2022 in “Frontiers in molecular biosciences” Plasmalogens activate a channel in cells that may stimulate hair growth.
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.
15 citations,
July 2021 in “Bosnian Journal of Basic Medical Sciences” Stem cell therapy is promising for treating various health conditions, but more research is needed to understand its full potential and address challenges.
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.
111 citations,
August 2002 in “Journal of Medicinal Chemistry” New compounds were made that block an enzyme linked to breast cancer better than existing treatments.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
9 citations,
March 2011 in “Current Pharmaceutical Biotechnology” Stem cell therapies show promise for treating various diseases but face challenges in clinical use and require better monitoring techniques.
1 citations,
March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
February 2024 in “Journal of Geochemical Exploration” Selenium levels in soil, crops, and human hair in Northwest China are within safe limits.