July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
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.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
119 citations
,
November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
January 2012 in “Methods in pharmacology and toxicology” TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
14 citations
,
May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
193 citations
,
May 2008 in “Development” Activating β-catenin can turn skin cells into hair follicles.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
467 citations
,
May 1999 in “Molecular Cell” Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
5 citations
,
January 2020 in “Research journal of pharmacy and technology” CBD may help reduce stress and pain in women with PCOS.
2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
54 citations
,
October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
January 2026 in “International Journal of Molecular Sciences” Hedgehog pathway inhibitors could be effective in treating melanoma.