1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
156 citations,
August 2016 in “Journal of controlled release” Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
April 2018 in “Journal of Investigative Dermatology” Older hair follicle stem cells have a reduced ability to renew themselves, leading to more hair loss.
25 citations,
June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
95 citations,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
6 citations,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
125 citations,
September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
14 citations,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
8 citations,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
188 citations,
May 2009 in “Plant physiology” Researchers found 19 genes important for root hair growth in a plant called Arabidopsis.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
405 citations,
May 2007 in “Journal of The American Academy of Dermatology” Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
7 citations,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
7 citations,
March 2017 in “Medical Hypotheses” Aquaporins could be new drug targets for treating polycystic ovary syndrome.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
73 citations,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
11 citations,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
70 citations,
October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
3 citations,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
February 2020 in “Biophysical journal” Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
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.
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.