Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
16 citations,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
7 citations,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
17 citations,
March 2012 in “The Journal of Pathology” In vivo lineage labelling is better than in vitro methods for identifying and understanding stem cells.
13 citations,
February 2010 in “Stem Cell Reviews and Reports” Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
15 citations,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
27 citations,
April 2020 in “Molecular Biology and Evolution” Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
1 citations,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
14 citations,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
44 citations,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
210 citations,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
9 citations,
October 2008 in “Mutation research” N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
76 citations,
June 2018 in “EMBO Reports” YAP and TAZ proteins are necessary for the development of two types of skin cancer.
24 citations,
January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
5 citations,
January 2022 in “PloS one” Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
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.
27 citations,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.