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.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
140 citations
,
March 2013 in “The journal of immunology/The Journal of immunology” Memory regulatory T cells need IL-7, not IL-2, to stay in peripheral tissues.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
64 citations
,
January 2010 in “The FASEB Journal” Prolactin affects the production of different keratins in human hair, which could lead to new treatments for skin and hair disorders.
48 citations
,
February 2013 in “Molecular and Cellular Endocrinology” The protein StAR is found in 17 different organs and can affect hair loss and brain functions, but its full role is not yet fully understood.
30 citations
,
July 2019 in “PloS one” Patients with Alopecia areata have fewer specific immune cells that normally regulate the immune system, which may contribute to the condition.
17 citations
,
June 2019 in “The journal of immunology/The Journal of immunology” A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
14 citations
,
April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
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.
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.
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.
8 citations
,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
57 citations
,
March 2018 in “International Journal of Molecular Sciences” The extracellular matrix is crucial for controlling skin stem cell behavior and health.
56 citations
,
February 2012 in “Cell Cycle” MicroRNAs are crucial for controlling skin development and healing by regulating genes.
46 citations
,
May 2012 in “Molecular and Cellular Endocrinology” Human skin produces sex hormones like estrogen and testosterone, influenced by ARO and StAR, which may affect skin elasticity and hair growth.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
13 citations
,
September 2018 in “Scientific Reports” The research found that a complex gene network, controlled by microRNAs, is important for hair growth in cashmere goats.
7 citations
,
July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
3 citations
,
June 2017 in “Methods” Researchers created a model to understand heart aging, highlighting the role of microRNAs and identifying key genes and pathways involved.
1 citations
,
December 2016 Researchers created a model to understand heart aging, highlighting key genes and pathways, and suggesting miR-208a as a potential heart attack biomarker.
August 2016 in “Journal of Investigative Dermatology” The research found that certain microRNAs are important for human hair growth and health.
January 2016 in “Human & Experimental Toxicology” A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.
196 citations
,
May 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Sebocytes play a key role in controlling androgen levels in human skin.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.