119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
January 2018 in “Stem cell biology and regenerative medicine” The nucleus is key in controlling skin growth and repair by coordinating signals, gene regulators, and epigenetic changes.
June 2018 in “Journal of Dermatological Science” UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
48 citations,
May 1991 in “The journal of investigative dermatology/Journal of investigative dermatology” Trichohyalin is also found in the outer layers of normal human skin.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
August 2019 in “Journal of Investigative Dermatology” Skin may help in getting rid of excess iron through the process of skin cell renewal.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
170 citations,
July 2012 in “Journal of Investigative Dermatology” Wnt ligands are crucial for hair growth and repair.
137 citations,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
137 citations,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
70 citations,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
54 citations,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
28 citations,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
19 citations,
September 2014 in “British Journal of Dermatology” Minoxidil foam 5% effectively treats hair loss in both frontal and vertex scalp regions.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
17 citations,
June 2012 in “Journal of experimental zoology. Part B, Molecular and developmental evolution” Hair in mammals likely evolved from glandular structures, not scales.
9 citations,
January 2017 in “Elsevier eBooks” Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
January 2024 in “Burns and trauma” The skin microbiome helps heal wounds and can be targeted to improve healing.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
January 2014 in “Journal of Investigative Dermatology” Proteins like aPKC and PDGF-AA, substances like adenosine and ATP, and adipose-derived stem cells all play important roles in hair growth and health, and could potentially be used to treat hair loss and skin conditions.
January 2020 in “Cosmetics” Ecklonia cava extract may protect the scalp from pollution and improve its health.