November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study developed a mouse model for Alopecia Areata that responds to treatment, useful for future research.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
1 citations
,
October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
18 citations
,
August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
11 citations
,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
99 citations
,
February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
JAK inhibitors show promise in treating moderate to severe alopecia areata.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
2 citations
,
May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
July 2024 in “Journal of Investigative Dermatology” June 2021 in “DOAJ (DOAJ: Directory of Open Access Journals)” JAK inhibitors show promise for treating alopecia areata but their effectiveness and safety are still debated.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
26 citations
,
May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
September 1997 in “Clinical and Experimental Dermatology” 4 citations
,
February 2018 in “World journal of surgical oncology” A young woman with kidney cancer experienced rare hair loss from a cancer drug and unusual cancer spread, suggesting early drug treatment might reduce spread and prolong survival.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
November 2025 in “Journal of the European Academy of Dermatology and Venereology” JAK inhibitors may reduce depression in people with alopecia areata.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
November 2020 in “Journal of The American Academy of Dermatology” Oral JAK inhibitors help regrow hair in alopecia patients.
Higher TGF-β signaling may increase skin cancer risk in organ transplant recipients.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.