54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
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.
54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
53 citations
,
May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
53 citations
,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Reduced AR gene methylation may cause early pubic hair growth in girls.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
47 citations
,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
46 citations
,
May 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
45 citations
,
November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
39 citations
,
May 2011 in “Human Immunology” Genetics play a role in acne, but how exactly they contribute is not fully understood.
39 citations
,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
39 citations
,
March 2008 in “Growth hormone & IGF research” Raspberry ketone may help grow hair and improve skin elasticity.
34 citations
,
October 2017 in “Archivos Argentinos De Pediatria” Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.
34 citations
,
April 2014 in “Psychopharmacology” Stress and alcohol affect brain chemicals differently in rats, mice, and humans, influenced by genetic differences.
33 citations
,
April 2011 in “Journal of Veterinary Internal Medicine” Long-term fluticasone treatment does not harm the immune system in horses with heaves.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
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.
29 citations
,
March 2011 in “The Journal of Nutritional Biochemistry” Eating isoflavone can help mice grow hair by increasing a growth factor.
28 citations
,
May 2017 in “Molecular ecology” Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
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.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
25 citations
,
October 2018 in “PloS one” Key genes regulate hair follicle phase changes in Inner Mongolia cashmere goats.
25 citations
,
July 2013 in “Environmental Toxicology and Chemistry” Spironolactone harms fish reproduction and is more potent in fish than invertebrates, needing environmental monitoring.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.