38 citations
,
January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.
43 citations
,
April 1996 in “Journal of Investigative Dermatology” 287 citations
,
July 2001 in “Journal of Cell Science” The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
Mutations in specific genes cause different types of ectodermal dysplasias.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
October 2024 in “Frontiers in Oncology” Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
49 citations
,
August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
58 citations
,
July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
25 citations
,
September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
KRTAP6 genes affect wool quality in sheep.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.