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.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
25 citations
,
June 2017 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” VDR regulation varies by tissue and is crucial for its biological functions.
1 citations
,
March 2014 in “TURKDERM” Understanding hair follicles can lead to new treatments for hair loss and skin tumors.
April 2018 in “Journal of Investigative Dermatology” Older hair follicle stem cells have a reduced ability to renew themselves, leading to more hair loss.
134 citations
,
January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
September 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
176 citations
,
February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.
76 citations
,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
19 citations
,
August 2012 in “Cell death and differentiation” Intu gene is crucial for hair follicle formation by helping keratinocytes differentiate through primary cilia.
8 citations
,
May 2013 in “Journal of Investigative Dermatology” Different problems with hair stem cell renewal can lead to hair loss.
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.
51 citations
,
January 2003 in “Hormone Research in Paediatrics” Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
40 citations
,
November 2009 in “Experimental Dermatology” The mineralocorticoid receptor may play a role in skin and hair health and could be a new target for treating related disorders.
27 citations
,
August 2014 in “Wiley interdisciplinary reviews. Developmental biology” The skin and thymus develop similarly to protect and support immunity.
27 citations
,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
16 citations
,
January 2003 in “Nuclear Receptor Signaling” Androgens and SARMs play a role in body mass, frailty, skin health, and hair growth, and are used in treating prostate cancer, acne, and hair loss, with potential for new uses and improved versions in the future.
7 citations
,
December 2004 in “Medicine” Knowing how skin works and its diseases helps doctors diagnose and treat skin conditions better.
February 2020 in “Biophysical journal” Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
128 citations
,
March 2006 in “American Journal of Pathology” Prolactin contributes to hair loss by promoting hair follicle shrinkage and cell death.
116 citations
,
May 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Hair grows faster in the morning and is more vulnerable to damage from radiation due to the internal clock in hair follicle cells.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
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.