1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
1 citations,
February 2009 in “Journal of Investigative Dermatology” VEGF helps squamous cell carcinoma grow in ways beyond just blood vessel formation.
[object Object] November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
166 citations,
November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
46 citations,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
[object Object] 22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
6 citations,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
5 citations,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
4 citations,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
29 citations,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
71 citations,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
63 citations,
May 2009 in “Dermato-endocrinology” Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
10 citations,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
81 citations,
February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
78 citations,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
1 citations,
August 2022 in “Biomedicines” Dutasteride, usually used for prostate issues and hair loss, could potentially treat Amyotrophic Lateral Sclerosis (ALS) due to its neuroprotective, antioxidant, and anti-inflammatory properties, but more testing is needed.
1 citations,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
1 citations,
January 2022 in “European Journal of Pharmacology” Riboflavin 5′-phosphate (FMN) shows potential for treating androgen-related conditions but may be limited in treating prostate cancer.
October 2022 in “BMC genomics” RNA editing significantly affects hair growth and follicle cycling in the Tianzhu white yak.
40 citations,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
31 citations,
July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
34 citations,
July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
11 citations,
March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.