136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
115 citations,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
104 citations,
May 2003 in “Endocrinology” Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
100 citations,
September 2017 in “Molecular and Cellular Endocrinology” Male hormones and their receptors play a key role in hair loss and skin health, with potential new treatments being explored.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
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.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
78 citations,
October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
75 citations,
March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
66 citations,
July 2007 in “Journal of Molecular Medicine” Stress increases certain chemicals in the skin and nerves, which might worsen skin conditions.
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.
50 citations,
July 1996 in “Cell” Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.
49 citations,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
47 citations,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
44 citations,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
39 citations,
April 2020 in “Clinical, Cosmetic and Investigational Dermatology” Asian hair is generally straight and thick, with unique disorders and properties, and more research is needed to understand it fully.
38 citations,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
34 citations,
April 2014 in “Psychopharmacology” Stress and alcohol affect brain chemicals differently in rats, mice, and humans, influenced by genetic differences.
31 citations,
April 2019 in “Cell reports” Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.
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.
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.
28 citations,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
27 citations,
August 2006 in “Laboratory Investigation” SCF and ET-1 together significantly increase skin pigmentation and melanin production.
26 citations,
May 2019 in “PLOS ONE” Hair loss patients have different microbes in hair follicles, possibly affecting hair loss.
18 citations,
April 2013 in “PLOS ONE” Mice with autoimmune hair loss showed signs of heart problems.
17 citations,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.