April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” The gene causing hair loss and heart issues in rough coat mice is still unknown.
6 citations
,
October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
1 citations
,
September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
88 citations
,
April 2012 in “Journal of Investigative Dermatology” Blocking TRPV3 may help treat itch in dry skin conditions.
4 citations
,
January 1994 in “Current Opinion in Endocrinology & Diabetes” PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
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.
222 citations
,
August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
52 citations
,
July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
34 citations
,
August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
9 citations
,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
9 citations
,
June 2022 in “Microorganisms” We need safe, affordable drugs to fight coronaviruses effectively.
9 citations
,
October 2014 Vitamin D receptor helps prevent skin tumors.
6 citations
,
December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
2 citations
,
September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.