14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
38 citations
,
June 2015 in “Expert Opinion on Therapeutic Targets” Blocking the prolactin receptor might help treat various diseases, but more research is needed.
10 citations
,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
4 citations
,
July 2005 in “International Journal of Dermatology” Topical PUVA and tacrolimus ointment can effectively and safely treat infant alopecia universalis.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
25 citations
,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
14 citations
,
November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
105 citations
,
August 2010 in “Pharmacology & therapeutics” Formyl-peptide receptor agonists could be new anti-inflammatory drugs.
13 citations
,
January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
March 2016 in “West Indian medical journal” There is no significant link between alopecia areata and the PON1 enzyme polymorphisms studied.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
7 citations
,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
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.
1 citations
,
January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
70 citations
,
March 2008 in “Mechanisms of Ageing and Development” Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
67 citations
,
December 2008 in “Developmental Biology” Msx2 and Foxn1 are both crucial for hair growth and health.
32 citations
,
February 2017 in “Oncotarget” Cellular senescence has both cancer-blocking and cancer-promoting effects, and targeting senescent cells may improve health and lifespan.
24 citations
,
May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
16 citations
,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
October 2025 in “Communications Medicine” Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
November 2024 in “Communities in ADDI (University of the Basque Country)”
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
Wild African goats have genetic adaptations for surviving harsh desert conditions.
The document tests knowledge and decision-making in hematology through multiple-choice questions.