Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anne L Estep"'
Publikováno v:
PLoS ONE, Vol 2, Iss 12, p e1279 (2007)
Among gynecologic cancers, ovarian cancer is the second most common and has the highest death rate. Cancer is a genetic disorder and arises due to the accumulation of somatic mutations in critical genes. An understanding of the genetic basis of ovari
Externí odkaz:
https://doaj.org/article/df2ee54699f74eb3bbd9e3d12891f685
Publikováno v:
American Journal of Medical Genetics Part A. :8-16
Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop neoplasia. Based on similarities with o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60e84f25fb0e8190643bb90fd6ae251c
https://doi.org/10.1002/ajmg.a.31078
https://doi.org/10.1002/ajmg.a.31078
Autor:
C. H. Bolt, Katherine A. Rauen, Anne L. Estep, C. Bunag, R. C. Rogers, K. J. Champion, David B. Everman, Julie R. Jones
Publikováno v:
Clinical genetics. 79(5)
BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio-facio-cutaneous (CFC) s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7577115fe27de1f0c42b88932580cf4c
https://pubmed.ncbi.nlm.nih.gov/20735442
https://pubmed.ncbi.nlm.nih.gov/20735442
Autor:
Yves Lacassie, Sherri J. Bale, William E. Tidyman, Srirangan Sampath, Henry M. Peltier, Anne L. Estep, Katherine A. Rauen
Publikováno v:
American journal of medical genetics. Part A. (4)
Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1, or MEK2. CFC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::792ad089f488907002beedf60afd4df8
https://pubmed.ncbi.nlm.nih.gov/20358587
https://pubmed.ncbi.nlm.nih.gov/20358587
Publikováno v:
Anastasaki, C, Estep, A L, Marais, R, Rauen, K A & Patton, E E 2009, ' Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors ', Human Molecular Genetics, vol. 18, no. 14, pp. 2543-2554 . https://doi.org/10.1093/hmg/ddp186
Human Molecular Genetics
Human Molecular Genetics
The Ras/MAPK pathway is critical for human development and plays a central role in the formation and progression of most cancers. Children born with germ-line mutations in BRAF, MEK1 or MEK2 develop cardio-facio-cutaneous (CFC) syndrome, an autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb3b944144f47332cc098c5d7ac06dcf
https://www.pure.ed.ac.uk/ws/files/8754647/Kinase_activating_and_kinase_impaired_cardio_facio_cutaneous_syndrome_alleles_have_activity_during_zebrafish_development_and_are_sensitive_to_small_molecule_inhibitors.pdf
https://www.pure.ed.ac.uk/ws/files/8754647/Kinase_activating_and_kinase_impaired_cardio_facio_cutaneous_syndrome_alleles_have_activity_during_zebrafish_development_and_are_sensitive_to_small_molecule_inhibitors.pdf
Publikováno v:
Journal of Investigative Medicine. 54:S101.1-S101
Costello syndrome (CS; MIM 214080) is a rare multiple congenital anomaly disorder in which individuals have characteristic dysmorphic craniofacial features, cardiac abnormalities, ectodermal and musculoskeletal anomalies, endocrinopathy, developmenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b54d8cd933b8c42bf1c24fa37122fddc
https://doi.org/10.2310/6650.2005.x0004.122
https://doi.org/10.2310/6650.2005.x0004.122