56 citations
,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
36 citations
,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
26 citations
,
December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
14 citations
,
October 2021 in “Dermatology and Therapy” UV exposure accelerates skin aging by altering elastin, leading to wrinkles.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
30 citations
,
April 2010 in “Cell Cycle” The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
5 citations
,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
178 citations
,
October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
174 citations
,
November 2016 in “Cell stem cell” Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
145 citations
,
May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
86 citations
,
May 2008 in “Cytokine & growth factor reviews” TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
54 citations
,
October 2023 in “Oncogene” p63 is essential for controlling epithelial stem cells and tissue health.
51 citations
,
June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
45 citations
,
January 2020 in “International Journal of Molecular Sciences” Some natural compounds may help overcome drug resistance in certain cancers, but more research is needed.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
25 citations
,
November 2014 in “Ageing Research Reviews” Skin aging is caused by stem cell damage and can potentially be delayed with treatments like antioxidants and stem cell therapy.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
21 citations
,
June 2016 in “Genesis” Researchers identified specific genes that are important for mouse skin cell development and healing.
20 citations
,
January 2013 in “Cell & Bioscience” Understanding how epigenetic regulation affects stem cells is key to cancer insights and new treatments.
19 citations
,
July 2018 in “Mechanisms of Ageing and Development” Eating less can slow aging and help keep stem cells healthy by cleaning out damaged cell parts.
18 citations
,
March 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Estrogen increases blood vessel growth factor production, while testosterone blocks this increase.
13 citations
,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” Vitamin D receptor helps control hair growth genes in skin cells.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
12 citations
,
December 2012 in “Current Drug Targets” The Androgen Receptor could be a target for treating diseases like cancer, but more research is needed to confirm the effectiveness of potential treatments.
7 citations
,
August 2017 in “PloS one” Key genes linked to hair growth and cancer were identified in hairless mice.
6 citations
,
October 2017 in “Oncotarget” Hairless mice are more vulnerable to Listeria infection, but gut microbiota can help reduce damage.