10 citations,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
61 citations,
September 2010 in “Genomics” The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
August 2024 in “Current Protocols” The C3H/HeJ mouse model is useful for studying and testing treatments for alopecia areata.
69 citations,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
3 citations,
March 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Zebrafish are useful for studying and developing treatments for human skin diseases.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
12 citations,
August 2022 in “Biochemical Journal” Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.
June 2020 in “Journal of Investigative Dermatology” The symposium highlighted the importance of genetics in understanding and treating complex skin diseases.
2 citations,
June 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Epigenetic factors play a crucial role in skin health and disease.
48 citations,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
June 2006 in “Experimental dermatology” The document concludes that while finding animal models for the skin disease Hidradenitis suppurativa is challenging, certain mouse mutations may provide useful insights for research and drug testing.
717 citations,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
44 citations,
April 2012 in “American Journal of Clinical Dermatology” Scarring alopecias are complex hair loss disorders that require early treatment to prevent permanent hair loss.
391 citations,
January 2010 in “Journal of The American Academy of Dermatology” Half of people with Alopecia Areata may see hair regrowth within a year without treatment, but recovery is unpredictable.
41 citations,
February 2001 in “Current pharmaceutical design” Current and future treatments for alopecia areata focus on immunosuppression, immunomodulation, and protecting hair follicles.
25 citations,
May 2017 in “InTech eBooks” Catalytic antibodies are early indicators and active participants in the development of systemic lupus erythematosus.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
9 citations,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
344 citations,
May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
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.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
57 citations,
March 2018 in “International Journal of Molecular Sciences” The extracellular matrix is crucial for controlling skin stem cell behavior and health.
46 citations,
February 2016 in “Experimental Dermatology” Genes play a significant role in male-pattern baldness, and understanding them could lead to new treatments and insights into related health issues.
18 citations,
October 2014 in “Experimental Dermatology” Local skin glucocorticoid production is crucial for healthy skin, and its disruption can lead to skin diseases.
17 citations,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
10 citations,
March 2014 in “Scandinavian journal of clinical and laboratory investigation” Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.
7 citations,
November 2018 in “British Journal of Dermatology” Alopecia areata is caused by immune system issues, and JAK inhibitors might help treat it.