260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
188 citations,
May 2009 in “Plant physiology” Researchers found 19 genes important for root hair growth in a plant called Arabidopsis.
20 citations,
September 2010 in “Cell Cycle” Mice can regenerate ear tissue without the p53 protein.
7 citations,
January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
2 citations,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
March 2024 in “Research Square (Research Square)” Twist2 is essential for proper skin healing and hair growth in developing mice.
February 2023 in “Research Square (Research Square)” Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
66 citations,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
94 citations,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
55 citations,
November 2010 in “Development” Hair follicles in mutant mice self-organize into ordered patterns within a week.
11 citations,
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
84 citations,
June 2010 in “The Plant Cell” Phospholipase A2 is necessary for the correct placement of PIN proteins in plant roots, affecting root growth.
September 2016 in “Journal of Dermatological Science” The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
19 citations,
November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
81 citations,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
31 citations,
July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
28 citations,
December 2008 in “Laboratory investigation” Activin activation in skin cells speeds up wound healing without affecting scar quality.
23 citations,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
18 citations,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
14 citations,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
11 citations,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
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.
7 citations,
September 2017 in “Scientific Reports” Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
74 citations,
June 2018 in “Cell death and disease” Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.