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.
1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2024 in “International Journal of Advanced Research” Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
6 citations,
February 2019 in “JAAD case reports” Acitretin helped improve hand mobility and skin condition in a patient.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
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.
1 citations,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
Understanding genetics is crucial for treating heart and skin diseases.
106 citations,
October 2016 in “Cell Stem Cell” PDGFA/AKT signaling is important for the growth and maintenance of certain skin fat cells.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
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.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
8 citations,
August 1997 in “Australasian Journal of Dermatology” Most HIV patients develop skin symptoms that can indicate the stage of their disease.
6 citations,
April 2013 in “Journal of Investigative Dermatology” Spironolactone might lower the chance of getting rosacea.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
The document is a detailed guide on skin conditions and treatments for dermatologists.
January 2017 in “Springer eBooks” The document explains various skin conditions and their treatments.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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.
24 citations,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
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.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
186 citations,
December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.