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.
7 citations,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
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.
38 citations,
May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
12 citations,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
451 citations,
March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
5 citations,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
9 citations,
September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
13 citations,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
58 citations,
December 2018 in “Nature Communications” Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
4 citations,
December 2012 in “Human Biology” The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
1 citations,
May 2023 in “Frontiers in Endocrinology” Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
174 citations,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
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.
67 citations,
April 1988 in “The Journal of Clinical Endocrinology & Metabolism” A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
41 citations,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
37 citations,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
22 citations,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
18 citations,
August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
17 citations,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
4 citations,
May 2021 in “Journal of The American Academy of Dermatology” There's no significant genetic link between male pattern baldness and COVID-19.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
1 citations,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.