75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
74 citations,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
70 citations,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
68 citations,
November 2012 in “Journal of Investigative Dermatology” Prostaglandin D2 blocks new hair growth after skin injury through the Gpr44 receptor.
66 citations,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
62 citations,
August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
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.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
52 citations,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
50 citations,
March 2021 in “Journal of investigational allergology & clinical immunology” Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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.
45 citations,
January 2020 in “International Journal of Molecular Sciences” Some natural compounds may help overcome drug resistance in certain cancers, but more research is needed.
44 citations,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
42 citations,
October 2011 in “Seminars in Cell & Developmental Biology” Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
36 citations,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
35 citations,
May 2015 in “Thrombosis Research” Prostaglandin E2 affects human platelet activity in complex ways that could lead to personalized heart disease treatments.
33 citations,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
32 citations,
May 2018 in “Cell Cycle” Melatonin helps Cashmere goats grow more hair by affecting certain genes and cell pathways.
32 citations,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
31 citations,
April 2019 in “Cell reports” Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
29 citations,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
29 citations,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
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.
26 citations,
December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.