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.
40 citations,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
39 citations,
January 2016 in “PubMed” Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
36 citations,
January 2004 in “European journal of cell biology” Without keratin 10, there's more growth and development of oil-producing skin cells.
32 citations,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
25 citations,
September 2018 in “Scientific Reports” Morroniside may help hair grow and stay in its growth phase by affecting certain cell signals.
23 citations,
September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
22 citations,
April 2020 in “Scientific reports” Changthangi goats have specific genes that help produce Pashmina wool.
22 citations,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
22 citations,
November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
18 citations,
September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
18 citations,
April 2002 in “Journal of cutaneous pathology” Tiny infundibular cysts are the main lesions in chloracne, not comedones.
18 citations,
July 2001 in “Australian veterinary journal” A cat with skin bumps and itching had high blood fats and skin infections, which improved with diet and medication changes.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
17 citations,
August 2014 in “The Anatomical Record” Scaffoldin helps form hard skin structures in chicken embryos.
17 citations,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
17 citations,
January 2003 in “Skinmed” Athletes can experience various skin injuries from physical activity and environmental factors, and performance-enhancing drugs can also negatively affect their skin.
16 citations,
September 2018 in “Scientific reports” Scientists created keratinocyte cell lines from human hair that can differentiate similarly to normal skin cells, offering a new way to study skin biology and diseases.
13 citations,
January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
12 citations,
August 2022 in “Biochemical Journal” Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.
10 citations,
January 2010 in “International journal of trichology” Keratin-associated proteins are part of the developing hair fiber cuticle.
10 citations,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
8 citations,
January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
8 citations,
November 2015 in “The American journal of dermatopathology/American journal of dermatopathology” Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
8 citations,
July 2004 in “Journal of morphology” Marsupial hair structure and keratin distribution are similar to placental mammals.
7 citations,
November 2014 in “Histochemistry and Cell Biology” The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
7 citations,
December 2011 in “Annals of anatomy” Involucrin helps strengthen the inner parts of human hair.
6 citations,
July 2017 in “Clinical and Experimental Dermatology” Four new cases confirmed the unique features of follicular porokeratosis.