78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
3 citations
,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
13 citations
,
July 2017 in “Biopolymers” Recombinant keratins can form useful structures for medical applications, overcoming natural keratin limitations.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
686 citations
,
February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
19 citations
,
December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
12 citations
,
December 2022 in “Frontiers in Bioscience-Landmark” The role of certain genes in skin cell development may be linked to psoriasis, but the connection is unclear.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
5 citations
,
December 1996 in “Biochemical and Biophysical Research Communications” Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests that changes in immune system receptors and their interaction with a cell component may be important in the development of a type of hair loss condition.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
234 citations
,
April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
95 citations
,
September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
September 2018 in “Journal of Experimental & Biomedical Sciences” DK peptides can reduce hair loss by inhibiting the 5α-reductase enzyme and have antioxidant effects.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
31 citations
,
October 2010 in “Progress in lipid research” LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
A KRT32 gene variant causes loose anagen hair syndrome.