62 citations
,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
62 citations
,
April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
61 citations
,
October 2013 in “PLoS ONE” Boosting Wnt signaling improves skin wound healing.
60 citations
,
May 2015 in “Archives of dermatological research” PPAR agonists show promise for skin conditions but need more research before being a main treatment.
60 citations
,
February 2013 in “Cell reports” The balance between androgen receptor and p53 is crucial for sebaceous gland differentiation.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
59 citations
,
June 2022 in “Frontiers in medicine” There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
59 citations
,
July 2015 in “Journal of Immunology” Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
59 citations
,
November 2010 in “Circulation Research” Wnt signaling may be linked to heart diseases in aging and could be a target for future treatments.
58 citations
,
February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research ACNE
58 citations
,
January 1997 in “Dermatologic Clinics” Acne significantly affects mental health and quality of life, with research suggesting hormonal and genetic factors in its development and emphasizing early treatment to prevent scarring.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
56 citations
,
February 2010 in “PLOS ONE” Blocking Wnt signaling in young mice causes thymus shrinkage and cell loss, but recovery is possible when the block is removed.
54 citations
,
October 2023 in “Oncogene” p63 is essential for controlling epithelial stem cells and tissue health.
53 citations
,
April 2021 in “Cell Host & Microbe” Skin bacteria, specifically Staphylococcus aureus, help in wound healing and hair growth by using IL-1β signaling. Using antibiotics on skin wounds can slow down this natural healing process.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
53 citations
,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
53 citations
,
May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
53 citations
,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Reduced AR gene methylation may cause early pubic hair growth in girls.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
52 citations
,
May 2015 in “PLOS Genetics” miR-22, a type of microRNA, controls hair growth and its overproduction can cause hair loss, while its absence can speed up hair growth.
52 citations
,
October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
51 citations
,
May 2021 in “Nature Communications” High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
48 citations
,
July 2008 in “Acta Biochimica et Biophysica Sinica” Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
47 citations
,
June 2019 in “Nature Communications” Noncoding dsRNA boosts hair growth by activating TLR3 and increasing retinoic acid.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.