Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Brenden Chen"'
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42598 (2012)
Cross-feedback activation of MAPK and AKT pathways is implicated as a resistance mechanism for cancer therapeutic agents targeting either RAF/MEK or PI3K/AKT/mTOR. It is thus important to have a better understanding of the molecular resistance mechan
Externí odkaz:
https://doaj.org/article/f977105d31fa4f8f9f44e379c7007545
Autor:
Jérôme Lamoril, Dimitri Tchernitchko, Robert J. Desnick, Charles J. Parker, Hervé Puy, Laurent Gouya, Brenden Chen, Zoubida Karim, Gaël Nicolas, Colin P. Farrell, John D. Phillips
Publikováno v:
Blood Advances
Blood Advances, The American Society of Hematology, 2021, ⟨10.1182/bloodadvances.2021005484⟩
Blood Advances, The American Society of Hematology, 2021, ⟨10.1182/bloodadvances.2021005484⟩
The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among firs
Publikováno v:
Mol Genet Metab
Acute Intermittent Porphyria (AIP), an autosomal dominant hepatic disorder, results from hydroxymethylbilane synthase (HMBS) mutations that decrease the encoded enzymatic activity, thereby predisposing patients to life-threatening acute neurovisceral
Autor:
Peter Ansell, Karina Dahl Steffensen, Kathleen N. Moore, Aikou Okamoto, Christine K. Ratajczak, Danielle Sullivan, Robert L. Coleman, Minh H. Dinh, Brenden Chen, Scott H. Kaufmann, Bruce A. Bach, Elizabeth M. Swisher, Michael A. Bookman
Publikováno v:
Swisher, E, Kaufmann, S, Okamoto, A, Steffensen, K, Bookman, M, Moore, K, Sullivan, D, Bach, B, Ratajczak, C, Chen, B, Dinh, M, Ansell, P & Coleman, R 2021, ' Characterization of patients with BRCA mutated ovarian cancer who are eligible versus not eligible for PARP inhibitor maintenance therapy: exploratory analysis of the VELIA study ', Gynecologic Oncology, vol. 162, no. Suppl. 1, pp. S106-S107 . https://doi.org/10.1016/S0090-8258(21)00846-5
Objectives: Previous phase 3 trials of front-line maintenance with the PARP inhibitors (PARPi) olaparib and niraparib only included patients (pts) with complete (CR) or partial (PR) response following front-line chemotherapy (CT); both agents were ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d5f71e65265838f2a5eddbbaef9d45
https://portal.findresearcher.sdu.dk/da/publications/05d497fe-54cd-4876-920b-a4892131e8dd
https://portal.findresearcher.sdu.dk/da/publications/05d497fe-54cd-4876-920b-a4892131e8dd
Autor:
Robert J. Desnick, Makiko Yasuda, Winfried Edelmann, Jinglan Zhang, Lin Gan, Chunli Yu, John D. Phillips, Daniela D. Pollak, Stefanie Berger, Brenden Chen, Miguel A Gama-Sosa
Publikováno v:
Hum Mol Genet
Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, wh
Autor:
Constanza Solis-Villa, Brenden Chen, Robert J. Desnick, Makiko Yasuda, Irina Nazarenko, Manisha Balwani, Angelika Erwin, John D. Phillips
Publikováno v:
Journal of Inherited Metabolic Disease. 42:186-194
Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis.
Publikováno v:
Journal of Medical Genetics. 55:261-268
BackgroundFabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 ‘Classic’ and the Type 2 ‘Later-Onset’ phenotypes. To identify pre
Publikováno v:
Journal of Human Genetics. 63:257-261
The focal facial dermal dysplasias (FFDDs) are a group of rare inherited developmental disorders characterized by congenital scar-like atrophic lesions in the bitemporal (FFDD1, 2, and 3) or preauricular (FFDD4) areas. FFDD4 is an autosomal-recessive
Autor:
Robert J. Desnick, Aneel K. Aggarwal, Anne Slavotinek, Brenden Chen, Lisa Edelmann, Beom Hee Lee
Publikováno v:
Journal of Medical Genetics. 54:585-590
Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are diffe
Autor:
Preeti Singh, Manisha Balwani, Anju Seth, Robert J. Desnick, Makiko Yasuda, Brenden Chen, Dana Doheny, Hetanshi Naik, Ekta Debnath
Publikováno v:
Molecular Genetics and Metabolism. 119:295-299
Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in