3 citations
,
October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
11 citations
,
October 2002 in “The Journal of Clinical Endocrinology & Metabolism” Enzyme activities do not cause early pubic hair in these girls.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
21 citations
,
August 2002 in “British Journal of Ophthalmology” A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
January 2026 in “Nature Reviews Urology” 16 citations
,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
56 citations
,
December 2002 in “The Journal of Clinical Endocrinology & Metabolism” Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
31 citations
,
December 1997 in “Developmental Medicine & Child Neurology” Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking CCR5 can prevent and improve hair loss in alopecia areata.
2 citations
,
October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
1 citations
,
May 2007 in “PubMed” Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
The woman's skin and health issues were due to a severe zinc deficiency.