26 citations,
December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
24 citations,
October 2017 in “Biomolecules” Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
20 citations,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
20 citations,
January 2012 in “Journal of Steroids & Hormonal Science” The document concludes that there are still unknowns about the effectiveness, risks, and detection of performance-enhancing drugs, and doping remains a challenge.
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.
19 citations,
October 2017 in “European Journal of Pharmaceutics and Biopharmaceutics” The gel made of minoxidil and hydroxypropyl-β-cyclodextrin improves hair growth and is good for long-term use.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
18 citations,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
18 citations,
April 2016 in “Endocrinology and Metabolism Clinics of North America” The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
13 citations,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
13 citations,
June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.
13 citations,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
11 citations,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
11 citations,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
11 citations,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
9 citations,
May 2005 in “Expert Review of Clinical Immunology” Blocking interferon-gamma might help treat various autoimmune diseases.
9 citations,
January 1997 in “Gynecological Endocrinology” The document concludes that treating androgen excess needs patience, managing expectations is important, and many drugs used are not officially approved, suggesting cosmetic options for mild cases.
8 citations,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
7 citations,
August 2017 in “PloS one” Key genes linked to hair growth and cancer were identified in hairless mice.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
7 citations,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
7 citations,
July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
6 citations,
January 2017 in “Advances in Experimental Medicine and Biology” Runx genes are important for stem cell regulation and their roles in aging and disease need more research.
6 citations,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
5 citations,
January 2022 in “PloS one” Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
5 citations,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.