January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
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.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
48 citations
,
August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
21 citations
,
August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
The naked mutation in mice causes hair loss and helps identify keratin genes.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
5 citations
,
July 1999 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Proteolytic enzymes damage hair follicles by detaching stem cells.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
20 citations
,
July 2017 in “Journal of Investigative Dermatology” IL-1 receptor absence in mice leads to skin cysts and changes in immune response after UVB exposure.
25 citations
,
May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
33 citations
,
July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
23 citations
,
July 2022 in “Nature Cell Biology” Targeting THY1 can improve skin repair and healing.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
36 citations
,
June 2021 in “Experimental & Molecular Medicine” Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.