8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
[object Object] CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
32 citations,
July 2018 in “FEBS letters” A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
305 citations,
March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
258 citations,
July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
172 citations,
March 2019 in “The EMBO Journal” FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
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.
124 citations,
January 2012 in “Journal of Allergy and Clinical Immunology” Endocannabinoids help control mast cell activity in human skin.
107 citations,
April 2014 in “The Plant cell” The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
101 citations,
July 1998 in “Journal of Investigative Dermatology” UVB exposure in human skin causes macrophages to produce more IL-10 and less IL-12, leading to immunosuppression.
57 citations,
April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
56 citations,
April 2019 in “The Plant Journal” Cyclic nucleotide-gated channels are crucial for proper root hair growth and calcium balance in plants.
55 citations,
December 2021 in “BMC Veterinary Research” Certain genes in Iranian sheep are linked to wool production and heat adaptation.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
26 citations,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
23 citations,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Genetic discoveries are leading to new treatments for alopecia areata.
22 citations,
July 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
20 citations,
October 2017 in “Stem Cell Reports” Alkaline Ceramidase 1 prevents early hair loss in mice by keeping hair follicle stem cells balanced.
16 citations,
January 2018 in “Advances in experimental medicine and biology” Hair and wool have diverse keratins and keratin-associated proteins.
9 citations,
December 2021 in “Androgens” Androgens like testosterone may help treat traumatic brain injury by reducing mitochondrial stress and inflammation.
9 citations,
October 2017 in “Frontiers in plant science” The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.
June 2024 in “Skin Research and Technology” hsa-miR-193a-5p may help diagnose and treat alopecia areata.
February 2024 in “International journal of molecular sciences” UV exposure reduced hair shine in mice, but minoxidil helped restore it.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
[object Object] May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
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,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.