January 2014 in “Pathology” RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
January 2014 in “Pathology” Early subungual melanoma might be treated with less aggressive surgery because it invades the skin under the nail more slowly.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
23 citations,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
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.
44 citations,
September 2014 in “Cell Death & Differentiation” Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
87 citations,
July 2012 in “Expert Review of Clinical Immunology” Pregnancy can increase lupus activity, but careful planning and treatment can improve outcomes.
29 citations,
September 2012 in “Dermatologic Clinics” Hair disorders are caused by a complex mix of biology, genetics, hormones, and environmental factors, affecting hair growth and leading to conditions like alopecia.
19 citations,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
16 citations,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
4 citations,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
120 citations,
February 2009 in “Apoptosis” Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
16 citations,
December 2006 in “Expert Review of Dermatology” Hair follicles are essential for skin health, aiding in hair growth, wound healing, and immune function.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific enzyme is essential for proper hair follicle stem cell development and healthy skin.
January 2009 in “Springer eBooks” The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
2 citations,
January 2022 in “Stem cell biology and regenerative medicine” Extracellular vesicles, including exosomes from certain cells, can stimulate hair growth.
7 citations,
May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
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.
22 citations,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
11 citations,
July 2016 in “Current Opinion in Cell Biology” New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
99 citations,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
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,
May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
1 citations,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
33 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.