September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
6 citations
,
January 2018 in “Advances in experimental medicine and biology”
24 citations
,
May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
26 citations
,
September 2012 in “Cell Reports” B-Raf and C-Raf are essential for maintaining melanocyte stem cells to prevent hair graying.
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.
52 citations
,
May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
58 citations
,
February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
84 citations
,
September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
990 citations
,
October 1999 in “Development” Activated LEF/TCF complexes are crucial for hair development and cycling.
February 2024 in “Skin research and technology” The research suggests that immune cells and a specific type of cell death called ferroptosis are involved in Frontal fibrosis alopecia.
72 citations
,
January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
70 citations
,
December 2004 in “Proceedings of the National Academy of Sciences” BMP signaling affects hair color by interacting with the MC-1R pathway.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
April 2019 in “Journal of Investigative Dermatology” Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
117 citations
,
August 1999 in “Nature Genetics” 11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
50 citations
,
June 1993 in “European journal of biochemistry” Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
23 citations
,
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” NF-κB is crucial for different stages and types of hair growth in mice.
September 2019 in “Journal of Investigative Dermatology” BMPs are important for hair growth and can counteract the negative effects of androgens on hair follicle stem cells.
26 citations
,
May 2012 in “Pharmaceutical Development and Technology” PEVs effectively deliver minoxidil through skin.
21 citations
,
November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
221 citations
,
July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.