29 citations,
October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
29 citations,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
23 citations,
January 2011 in “International Journal of Immunopathology and Pharmacology” Minoxidil 2% effectively treats Monilethrix without side effects.
20 citations,
June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
9 citations,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
3 citations,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
2 citations,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
The treatment was ineffective in humans.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
479 citations,
January 2005 in “BioEssays” Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
308 citations,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
120 citations,
February 2009 in “Apoptosis” Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
117 citations,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
103 citations,
June 2018 in “International Journal of Molecular Sciences” FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
92 citations,
December 2016 in “Scientific Reports” Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
89 citations,
November 2017 in “Journal of Cellular Physiology” The Wnt/β-catenin pathway is important for tissue development and has potential in regenerative medicine, but requires more research for therapeutic use.
85 citations,
September 2013 in “International Journal of Molecular Sciences” Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
82 citations,
October 2019 in “Frontiers in Immunology” Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
81 citations,
May 2007 in “Fertility and Sterility” Testosterone therapy seems safe for postmenopausal women for a few years, but more research is needed for long-term effects.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
39 citations,
April 2020 in “IntechOpen eBooks” Drug repurposing is a cost-effective way to find new uses for existing drugs, speeding up treatment development.
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.
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.
27 citations,
April 2020 in “Molecular Biology and Evolution” Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
25 citations,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
25 citations,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.