75 citations
,
November 2016 in “Medicines” Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.
62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
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
,
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
,
July 2013 in “Pharmacological Reviews” Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
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.
44 citations
,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
42 citations
,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
42 citations
,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
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.
39 citations
,
May 2011 in “European Journal of Clinical Investigation” Hirsutism can be caused by various conditions besides PCOS, and it's important to treat the underlying issue and manage symptoms with medication and cosmetic approaches.
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
36 citations
,
January 2017 in “Journal of Obstetrics and Gynaecology Research” The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
32 citations
,
February 2014 in “Psychopharmacology” Dutasteride makes alcohol less sedating and may lead to less drinking in men.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
30 citations
,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
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.
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
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
27 citations
,
August 2010 in “Clinics in Dermatology” Hepatitis C virus can cause skin diseases and dermatologists play a crucial role in identifying these conditions.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.