May 2023 in “Journal of complementary medicine & alternative healthcare” Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
46 citations,
February 2016 in “Experimental Dermatology” Genes play a significant role in male-pattern baldness, and understanding them could lead to new treatments and insights into related health issues.
April 2023 in “Medizinische Genetik” Male-pattern hair loss is largely influenced by genetics, with key genes identified.
29 citations,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
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.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
40 citations,
October 2012 in “Dermatologic clinics” More research is needed to understand the genetic causes of Alopecia areata to develop better treatments.
May 2008 in “Hair transplant forum international” A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
11 citations,
November 2012 in “Seminars in Cutaneous Medicine and Surgery” Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
1415 citations,
October 2007 in “European Journal of Epidemiology” The Rotterdam Study investigates diseases in older adults and has produced many research findings.
30 citations,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
April 2023 in “Medizinische Genetik” New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
19 citations,
April 2015 in “Developmental Dynamics” The conclusion is that skin and hair patterns are formed by a mix of cell activities, molecular signals, and environmental factors.
3 citations,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
September 2019 in “Journal of Investigative Dermatology” People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
September 2019 in “Journal of Investigative Dermatology” Specialized ribosomes affect aging in human skin cells.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
15 citations,
January 2014 in “Anais Brasileiros de Dermatologia” Lupus treatment requires a combination of drugs and therapies, with research needed for new options.
4 citations,
November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
9 citations,
March 2020 in “Gene” Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
144 citations,
September 2006 in “Clinics in Dermatology” Lupus affects the body and skin, causing joint pain and skin issues that can be treated with steroids and antimalarial drugs.
23 citations,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.