Somatic activating BRAF variants cause isolated lymphatic malformations

Autor: Kaitlyn Zenner, Dana M. Jensen, Victoria Dmyterko, Giridhar M. Shivaram, Candace T. Myers, Cate R. Paschal, Erin R. Rudzinski, Minh-Hang M. Pham, V. Chi Cheng, Scott C. Manning, Randall A. Bly, Sheila Ganti, Jonathan A. Perkins, James T. Bennett

Publikováno v: HGG Advances, Vol 3, Iss 2, Pp 100101- (2022)

Summary: Somatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), have been previously detected in ∼80% of lymphatic malformations (LMs).1,2 We report the presence of somatic

Externí odkaz: https://doaj.org/article/2fb69ded718f4219a8ac5c125d17cbcd

Upregulated microRNA-21 drives proliferation of lymphatic malformation endothelial cells by inhibiting PDCD4

Autor: Ravi W. Sun, Haihong Zhang, Syed J. Mehdi, Gresham T. Richter, Hayden H. Bowman, Jessica Sifford, Chelsea Smith, Alexander K. Burnett, Alexander Layman, Charity L. Washam, Stephanie D. Byrum, James T. Bennett, Dana M. Jensen, Victoria Dmyterko, Jonathan A. Perkins, Carrie J. Shawber, June K. Wu, Graham M. Strub

Publikováno v: Journal of Investigative Dermatology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a23419d51b95dea47e53b43ee38e2368
https://doi.org/10.1016/j.jid.2023.04.007

Somatic activating

Autor: Kaitlyn, Zenner, Dana M, Jensen, Victoria, Dmyterko, Giridhar M, Shivaram, Candace T, Myers, Cate R, Paschal, Erin R, Rudzinski, Minh-Hang M, Pham, V Chi, Cheng, Scott C, Manning, Randall A, Bly, Sheila, Ganti, Jonathan A, Perkins, James T, Bennett

Publikováno v: HGG advances. 3(2)

Somatic activating variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::48ee567b2cc62d36d138e7fc7347a702
https://pubmed.ncbi.nlm.nih.gov/35373151

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Autor: Ehsan Ghayoor Karimiani, Laura E. Kuil, Tjakko J. van Ham, Irene J. Chang, Robert F. Hevner, Reza Maroofian, C. Dirk Keene, Dana M. Jensen, Lee Astle, Caitlin S. Latimer, Herma C. van der Linde, Giridhar M. Shivaram, Nynke Oosterhof, Jeroen Demmers, Erica Young, Emily Loter, Ray A. M. Daza, James T. Bennett

Publikováno v: American Journal of Human Genetics, 104(5), 936-947. Cell Press
American Journal of Human Genetics, 936-947. CELL PRESS
STARTPAGE=936;ENDPAGE=947;ISSN=0002-9297;TITLE=American Journal of Human Genetics

Microglia are CNS-resident macrophages that scavenge debris and regulate immune responses. Proliferation and development of macrophages, including microglia, requires Colony Stimulating Factor 1 Receptor (CSF1R), a gene previously associated with a d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7691d605562e8ec60c91756d238346
https://research.rug.nl/en/publications/88cf7183-11a2-4b12-a5cf-8996726812b7

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

Autor: James T. Bennett, Dana M. Jensen, Heather M. Byers, Ian A. Glass

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178:374-378

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by hamartomatous growths in the brain, kidneys, lungs, skin, heart, and retina. TSC is caused by loss of function mutations in one of two tumor suppressor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b65b35d923c9dea0c70eff509dc51099
https://doi.org/10.1002/ajmg.c.31656