S. Stauffer

发表

AGAP1, an Endosome-associated, Phosphoinositide-dependent ADP-ribosylation Factor GTPase-activating Protein That Affects Actin Cytoskeleton*

J. Takei, D. Hirsch, P. Randazzo, 2002, The Journal of Biological Chemistry.

Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

Jingmei Li, D. Easton, S. Teo, 2020, Human mutation.

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays

E. Iversen, V. Magidson, S. Stauffer, 2020, npj Genomic Medicine.

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

Suhwan Chang, S. Stauffer, S. Sharan, 2009, The Journal of clinical investigation.

Bypass of premature stop codons and generation of functional BRCA2 by exon skipping

S. Stauffer, S. Sharan, Kajal Biswas, 2020, Journal of Human Genetics.

Arf1 Dissociates from the Clathrin Adaptor GGA Prior to Being Inactivated by Arf GTPase-activating Proteins*

D. Hirsch, P. Randazzo, Z. Nie, 2002, The Journal of Biological Chemistry.

A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

W. Foulkes, N. Hamel, L. Tessarollo, 2021, Cell Death & Disease.

Differences between AGAP1, ASAP1 and Arf GAP1 in substrate recognition: interaction with the N-terminus of Arf1.

R. Premont, P. Randazzo, S. Stauffer, 2004, Cellular signalling.

Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma

F. Couch, S. Chanock, M. Yeager, 2022, Human mutation.

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

R. Byrd, B. Alter, L. Brody, 2011, Blood.

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

A. Mankodi, S. Stauffer, S. Sharan, 2021, Communications biology.

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

D. Pruss, R. Byrd, L. Tessarollo, 2012, Human molecular genetics.

Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies

Keiko Akagi, Eugen C. Buehler, Xia Ding, 2016, Nature Communications.

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

W. Foulkes, K. Offit, T. Kirchhoff, 2009, Human mutation.

Altered Gene Expression Profiles Define Pathways in Colorectal Cancer Cell Lines Affected by Celecoxib

R. Stephens, M. Yi, I. Ali, 2008, Cancer Epidemiology Biomarkers & Prevention.

Using recombineering to generate point mutations:galK-based positive-negative selection method.

Stacey Stauffer, S. Stauffer, S. Sharan, 2012, Methods in molecular biology.

Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption

Michael J. Walker, A. Stevens, A. Williamson, 2017, Cell Death & Disease.

Phosphoinositide-dependent Activation of the ADP-ribosylation Factor GTPase-activating Protein ASAP1

J. Gruschus, Trevor R. Jackson, K. Miura, 2000, The Journal of Biological Chemistry.

The Arf GTPase-activating protein ASAP1 regulates the actin cytoskeleton.

Jonathan A. Cooper, J. Andrade, K. Miura, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Label-free global serum proteomic profiling reveals novel celecoxib-modulated proteins in familial adenomatous polyposis patients.

Ming Yi, Iqbal Unnisa Ali, Peter Greenwald, 2009, Cancer genomics & proteomics.

Regulation of ASAP1 by phospholipids is dependent on the interface between the PH and Arf GAP domains.

E. Boja, J. Gruschus, P. Schuck, 2005, Cellular signalling.

The combination of trametinib and ganitumab is effective in RAS-mutated PAX-fusion negative rhabdomyosarcoma models.

M. Hall, S. Difilippantonio, M. Yohe, 2022, Clinical Cancer Research.

ARAP1: a point of convergence for Arf and Rho signaling.

J. Resau, A. Kubosaki, Yi Zheng, 2002, Molecular cell.

Bypass of premature stop codons and generation of functional BRCA2 by exon skipping

S. Stauffer, S. Sharan, K. Biswas, 2020, Journal of Human Genetics.

Preparation of myristoylated Arf1 and Arf6.

G. Thomas, P. Randazzo, S. Stauffer, 2005, Methods in enzymology.

A BAR Domain in the N Terminus of the Arf GAP ASAP1 Affects Membrane Structure and Trafficking of Epidermal Growth Factor Receptor

J. Andrade, D. Hirsch, J. Hinshaw, 2006, Current Biology.

Mutational Analysis of the Arf1•GTP/Arf GAP Interface Reveals an Arf1 Mutant that Selectively Affects the Arf GAP ASAP1

R. Premont, P. Randazzo, B. Ahvazi, 2005, Current Biology.

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

Suhwan Chang, S. Stauffer, Betty K. Martin, 2009, The Journal of clinical investigation.

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

B. Alter, S. Meyer, S. Burkett, 2011, Blood.

Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs

Sounak Sahu, S. Stauffer, Susan Reid, 2023, Cell reports methods.