81 citations,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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.
77 citations,
February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
53 citations,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
49 citations,
October 2009 in “Cancer research” Disrupting Stat3 in hair follicle stem cells greatly reduces skin tumor formation.
44 citations,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
33 citations,
October 2013 in “Journal of The American Academy of Dermatology” Pioglitazone usually doesn't effectively treat or cure lichen planopilaris.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
29 citations,
July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
20 citations,
March 2013 in “Journal of Lipid Research” The research explains how a human enzyme binds and processes its substrate, which could relate to its role in biological functions and hair loss.
17 citations,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
13 citations,
January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
5 citations,
September 2002 in “Archives of Dermatology” Dermatologists diagnose and manage melanoma more effectively than general practitioners.
2 citations,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
1 citations,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
October 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” Post-implantation erythema is a red skin condition after medical device implantation that sometimes goes away on its own.
October 2007 in “Journal of Investigative Dermatology” The document suggests a bacteria plays a significant role in acne rosacea and that white hair can regain color after transplant, meriting more research on reversing grey hair.
June 2019 in “Stem Cell Research” Scientists created MUSIi010-A, a stem cell line from a balding man's scalp, to study hair loss and develop potential treatments.
3 citations,
June 2021 in “Frontiers in genetics” The protein STAT3 slows down cell growth by blocking the FST gene, which affects hair development in sheep.
3 citations,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.