4 citations,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
May 2024 in “Clinical Cosmetic and Investigational Dermatology” Manipulating cell cleanup processes could help treat hair loss.
66 citations,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
52 citations,
October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
36 citations,
October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
22 citations,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
25 citations,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
24 citations,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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.
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.
27 citations,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
10 citations,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
23 citations,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
25 citations,
November 2014 in “British Journal of Dermatology” Certain transporters are found in human hair follicles and may affect hair growth and loss.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
11 citations,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.