3 citations,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
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.
109 citations,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
19 citations,
July 1994 in “Journal of Dermatological Science” Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
9 citations,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
10 citations,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
July 2016 in “American Journal of Dermatopathology” The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
1 citations,
October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
April 2024 in “Journal of translational medicine” Melanocytes are important for normal body functions and have potential uses in regenerative medicine and disease treatment.
6 citations,
May 2020 in “Scientific reports” Researchers identified genes and proteins that may influence wool thickness in sheep.
1 citations,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
64 citations,
January 2010 in “The FASEB Journal” Prolactin affects the production of different keratins in human hair, which could lead to new treatments for skin and hair disorders.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific immune response helps control mite populations on the skin, maintaining healthy hair follicles.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
6 citations,
October 2022 in “Journal of cell science” Keratin genes change gradually during skin cell development and should be used carefully as biomarkers.
1 citations,
July 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Keratin gene expression helps understand different types of skin cells and their development, and should be used carefully as biological markers.
174 citations,
November 2016 in “Cell stem cell” Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
14 citations,
April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
2 citations,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
4 citations,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
1 citations,
February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
13 citations,
May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
18 citations,
August 2012 in “Journal of The American Academy of Dermatology” Estrogen therapy helped regrow hair in a bald man.
3 citations,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The research reveals how early embryonic mouse skin develops from simple to complex structures, identifying various cell types and their roles in this process.
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.