260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
1 citations
,
March 2011 in “Infertility” Hormone imbalances from the pituitary, thyroid, and adrenal glands can cause infertility, but treating these disorders can improve fertility.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
1 citations
,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
186 citations
,
December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
36 citations
,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
86 citations
,
October 2017 in “Translational pediatrics” Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
10 citations
,
May 2018 in “Neuropharmacology” Drugs for hormone-related conditions might help treat mental disorders but could have serious side effects.
72 citations
,
January 2011 in “Current Pharmaceutical Design” S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
3 citations
,
January 2013 Hypothyroidism in dogs is usually caused by immune system issues or gland atrophy, affects middle-aged purebreds most, and is treatable with medication.
70 citations
,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
18 citations
,
January 2004 in “Dermatologic Clinics” Skin problems in older people can indicate hormonal diseases, nutritional deficiencies, or conditions like diabetes, menopause, and HIV.
58 citations
,
April 2017 in “The Journal of Steroid Biochemistry and Molecular Biology” Post-finasteride patients show changed neuroactive steroid levels, possibly causing erectile dysfunction and depression.
38 citations
,
December 2012 in “Journal of Cutaneous Pathology” EVG staining is a valuable, simple, and cost-effective method for diagnosing various skin conditions in dermatopathology.
47 citations
,
November 2012 in “Expert Opinion on Therapeutic Patents” The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
21 citations
,
January 2020 in “General and Comparative Endocrinology” Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
218 citations
,
December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
1 citations
,
July 2023 in “Frontiers in Immunology” Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
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.
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.
38 citations
,
October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
18 citations
,
March 2020 in “Frontiers in Neuroendocrinology” The enzymes 5α-reductase and 3α/β-hydroxysteroid oxidoreductase help create brain-active substances from progesterone and testosterone, which could be used for treatment, but more research is needed to ensure their safety and effectiveness.