5 citations,
January 2014 in “Indian Journal of Nephrology” A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
1 citations,
November 2021 in “Translational pediatrics” Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
81 citations,
September 2009 in “Birth defects research” Different body areas in mice produce different hair types due to interactions between skin layers.
24 citations,
January 2015 in “International Journal of Trichology” Early balding in young Indian men may indicate a higher risk of metabolic syndrome and potential heart disease.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
7 citations,
December 2020 in “Endocrine-related Cancer” The over-the-counter supplement DHEA could make COVID-19 worse, especially in diabetics and people with G6PD deficiency.
Men with male pattern baldness are more likely to have unhealthy blood lipid levels, which could signal other health issues.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
2 citations,
May 2023 in “International Journal of Molecular Sciences” The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
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.
31 citations,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
7 citations,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
138 citations,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
19 citations,
October 1985 in “British Journal of Dermatology” The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
854 citations,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
82 citations,
September 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
December 2023 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
2 citations,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
November 1983 in “American Biology Teacher” Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
150 citations,
October 2010 in “The American Journal of Pathology” The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
86 citations,
May 2008 in “Cytokine & growth factor reviews” TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
75 citations,
June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
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.
15 citations,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
6 citations,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.