Scholars@Duke
Anne Frances Buckley

Anne Frances Buckley

Associate Professor of Pathology
Pathology
anne.buckley@duke.edu
Dept of Pathology, BOX_3712, Durham, NC 27710

Selected Publications

Cytostatic hypothermia and its impact on glioblastoma and survival.

Journal Article Sci Adv · November 25, 2022 Patients with glioblastoma (GBM) have limited options and require novel approaches to treatment. Here, we studied and deployed nonfreezing "cytostatic" hypothermia to stunt GBM growth. This growth-halting method contrasts with ablative, cryogenic hypotherm ... Full text Link to item Cite

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Journal Article Brain · August 27, 2022 Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants have ... Full text Link to item Cite

Case Report: Unusual Aggregation of Different Glomerulopathies in a Family Resolved by Genetic Testing and Reverse Phenotyping.

Journal Article Front Pediatr · 2022 Glomerular diseases (GDs) are a major cause of chronic kidney disease in children. The conventional approach to diagnosis of GDs includes clinical evaluation and, in most cases, kidney biopsy to make a definitive diagnosis. However, in many cases, clinical ... Full text Link to item Cite

Resolution of radiation necrosis with bevacizumab following radiation therapy for primary CNS lymphoma.

Journal Article Oncotarget · 2022 IMPORTANCE: Radiation necrosis (RN) is a rare but serious adverse effect following treatment with radiation therapy. No standard of care exists for the management of RN, and efforts to prevent and treat RN are limited by a lack of insight into the pathomec ... Full text Link to item Cite

Successful Neonatal, Intraoperative Neuromonitoring in the Surgical Correction of a Thoracic Dermal Sinus Tract: Technical Note.

Journal Article Pediatr Neurosurg · 2022 INTRODUCTION: Intraoperative neuromonitoring (IONM) is commonly used during surgery of the spine and spinal cord for early surveillance of iatrogenic injury to the central and peripheral nervous system. However, for infants and young children under 3 years ... Full text Link to item Cite

Blockade of the natriuretic peptide clearance receptor attenuates proteinuria in a mouse model of focal segmental glomerulosclerosis.

Journal Article Physiol Rep · November 2021 Glomerular podocytes play a key role in proteinuric diseases. Accumulating evidence suggests that cGMP signaling has podocyte protective effects. The major source of cGMP generation in podocytes is natriuretic peptides. The natriuretic peptide clearance re ... Full text Link to item Cite

Multisite Quality Improvement Study of a Patient-Pathologist Consultation Program.

Journal Article Am J Clin Pathol · May 18, 2021 OBJECTIVES: The aim of this multisite quality improvement study was to evaluate patients' experiences with the patient-centered pathology (PCP) consultation program and to determine whether PCP enhanced their care experience. METHODS: Patients were invited ... Full text Link to item Cite

Eosinophilic globules in a classic ependymoma: evidence of a possible secretory role.

Journal Article Ultrastruct Pathol · November 20, 2020 A number of neoplasms of the central nervous system can demonstrate diffuse eosinophilic globules, known to be secretory products of the corresponding cell type, but they have not been a salient feature in descriptions of classic ependymoma. Here, we prese ... Full text Link to item Cite

Skeletal Muscle Is an Antigen Reservoir in Integrase-Defective Lentiviral Vector-Induced Long-Term Immunity.

Journal Article Mol Ther Methods Clin Dev · June 12, 2020 We previously developed integrase-defective lentiviral vectors (IDLVs) as an antigen delivery system for inducing strong and prolonged immunity in animal models. Here, we examined the association between persistence of antigen expression and durability of ... Full text Link to item Cite

Irgm1-deficiency leads to myeloid dysfunction in colon lamina propria and susceptibility to the intestinal pathogen Citrobacter rodentium.

Journal Article PLoS Pathog · May 2020 IRGM and its mouse orthologue Irgm1 are dynamin-like proteins that regulate vesicular remodeling, intracellular microbial killing, and pathogen immunity. IRGM dysfunction is linked to inflammatory bowel disease (IBD), and while it is thought that defective ... Full text Link to item Cite

Sudden Unexpected Death in a Child From an Anaplastic Ependymoma.

Journal Article Am J Forensic Med Pathol · September 2019 Primary central nervous system tumors are an extremely rare cause of sudden, unexpected death in children as most patients develop symptoms because of increased intracranial pressure and seek medical attention. Rarely, a forensic pathologist may encounter ... Full text Link to item Cite

Knockout of TRPC6 promotes insulin resistance and exacerbates glomerular injury in Akita mice.

Journal Article Kidney Int · February 2019 Gain-of-function mutations in TRPC6 cause familial focal segmental glomerulosclerosis, and TRPC6 is upregulated in glomerular diseases including diabetic kidney disease. We studied the effect of systemic TRPC6 knockout in the Akita model of type 1 diabetes ... Full text Link to item Cite

MULTIPLE PITUITARY ADENOMAS WITH FUNCTIONAL FOLLICLE-STIMULATING HORMONE SECRETION LEADING TO OVARIAN HYPERSTIMULATION SYNDROME.

Journal Article AACE Clin Case Rep · 2019 OBJECTIVE: To present a rare case of multiple pituitary adenomas with a functional follicle-stimulating hormone component leading to ovarian hyperstimulation syndrome. METHODS: We present the clinical, laboratory, imaging, and pathologic findings along wit ... Full text Link to item Cite

A Diffuse Leptomeningeal Glioneuronal Tumor Without Diffuse Leptomeningeal Involvement: Detailed Molecular and Clinical Characterization.

Journal Article J Neuropathol Exp Neurol · September 1, 2018 Prior to their provisional WHO classification as a distinct entity in 2016, diffuse leptomeningeal glioneuronal tumors (DLGNT) were often regarded as diffuse leptomeningeal presentations of oligodendrogliomas or extraventricular neurocytomas. Their classif ... Full text Link to item Cite

Regulation of cofilin phosphorylation in glomerular podocytes by testis specific kinase 1 (TESK1).

Journal Article Sci Rep · August 16, 2018 Expression of a constitutively active Rho A (V14Rho) in podocytes in vivo induces albuminuria and foot process (FP) effacement. These effects may be mediated by the Rho A effector Rho kinase (ROK); but inhibition of ROK with Y27632 failed to attenuate albu ... Full text Link to item Cite

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.

Journal Article Cold Spring Harb Mol Case Stud · November 2017 GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterio ... Full text Link to item Cite

PRKAG2 mutations presenting in infancy.

Journal Article Journal of inherited metabolic disease · November 2017 PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations in PRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system ... Full text Cite

Podocyte-specific knockout of cyclooxygenase 2 exacerbates diabetic kidney disease.

Journal Article Am J Physiol Renal Physiol · August 1, 2017 Enhanced expression of cyclooxygenase 2 (COX2) in podocytes contributes to glomerular injury in diabetic kidney disease, but some basal level of podocyte COX2 expression might be required to promote podocyte attachment and/or survival. To investigate the r ... Full text Link to item Cite

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Journal Article JIMD Rep · 2017 Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructok ... Full text Link to item Cite

PRKAG2 as a mimicker of Pompe disease

Conference Molecular Genetics and Metabolism · January 2017 Full text Cite

The fornix provides multiple biomarkers to characterize circuit disruption in a mouse model of Alzheimer's disease.

Journal Article Neuroimage · November 15, 2016 Multivariate biomarkers are needed for detecting Alzheimer's disease (AD), understanding its etiology, and quantifying the effect of therapies. Mouse models provide opportunities to study characteristics of AD in well-controlled environments that can help ... Full text Link to item Cite

C-C Motif Chemokine 5 Attenuates Angiotensin II-Dependent Kidney Injury by Limiting Renal Macrophage Infiltration.

Journal Article Am J Pathol · November 2016 Inappropriate activation of the renin angiotensin system (RAS) is a key contributor to the pathogenesis of essential hypertension. During RAS activation, infiltration of immune cells into the kidney exacerbates hypertension and renal injury. However, the m ... Full text Open Access Link to item Cite

Distinct routes to metastasis: plasticity-dependent and plasticity-independent pathways.

Journal Article Oncogene · August 18, 2016 The cascade that culminates in macrometastases is thought to be mediated by phenotypic plasticity, including epithelial-mesenchymal and mesenchymal-epithelial transitions (EMT and MET). Although there is substantial support for the role of EMT in driving c ... Full text Open Access Link to item Cite

Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

Rhabdomyomatous mesenchymal hamartoma presenting as a sacral skin tag in two neonates with spinal dysraphism.

Journal Article J Cutan Pathol · October 2015 Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital malformation involving the dermis and subcutaneous tissue, of which there were 62 reported cases through 2014. We report RMH in two neonates presenting as a sacral skin tag. In both cases, ma ... Full text Link to item Cite

Gq signaling causes glomerular injury by activating TRPC6.

Journal Article J Clin Invest · May 2015 Familial forms of focal segmental glomerulosclerosis (FSGS) have been linked to gain-of-function mutations in the gene encoding the transient receptor potential channel C6 (TRPC6). GPCRs coupled to Gq signaling activate TRPC6, suggesting that Gq-dependent ... Full text Link to item Cite

Radioprotection of the brain white matter by Mn(III) n-Butoxyethylpyridylporphyrin-based superoxide dismutase mimic MnTnBuOE-2-PyP5+.

Journal Article Mol Cancer Ther · January 2015 Cranial irradiation is a standard therapy for primary and metastatic brain tumors. A major drawback of radiotherapy (RT), however, is long-term cognitive loss that affects quality of life. Radiation-induced oxidative stress in normal brain tissue is though ... Full text Link to item Cite

Abstract SS02-02: A long walk from FGFR2 alternative splicing to cancer progression

Other Cancer Epidemiology, Biomarkers & Prevention · November 1, 2014 AbstractPreviously, our group developed fluorescence-based alternative splicing reporters of epithelial plasticity to visualize phenotypic transitions in real time in vivo (Oltean et al., 2008; Oltean et al. ... Full text Cite

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Journal Article FASEB J · May 2014 Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previo ... Full text Open Access Link to item Cite

Type 1 angiotensin receptors on macrophages ameliorate IL-1 receptor-mediated kidney fibrosis.

Journal Article J Clin Invest · May 2014 In a wide array of kidney diseases, type 1 angiotensin (AT1) receptors are present on the immune cells that infiltrate the renal interstitium. Here, we examined the actions of AT1 receptors on macrophages in progressive renal fibrosis and found that macrop ... Full text Link to item Cite

Augmenting podocyte injury promotes advanced diabetic kidney disease in Akita mice.

Journal Article Biochem Biophys Res Commun · February 21, 2014 To determine if augmenting podocyte injury promotes the development of advanced diabetic nephropathy (DN), we created mice that expressed the enzyme cytosine deaminase (CD) specifically in podocytes of diabetic Akita mice (Akita-CD mice). In these mice, tr ... Full text Link to item Cite

Skeletal muscle microvasculature in the diagnosis of neuromuscular disease.

Journal Article J Neuropathol Exp Neurol · October 2013 Blood vessels are often overlooked in analyses of skeletal muscle biopsies. However, there are many vascular features in skeletal muscle biopsies that, when interpreted in the context of other histologic patterns and clinical history, provide useful inform ... Full text Link to item Cite

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Journal Article Orphanet J Rare Dis · June 20, 2013 BACKGROUND: Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading to tissue damage is caused by ... Full text Open Access Link to item Cite

An animal model of MYC-driven medulloblastoma.

Journal Article Cancer Cell · February 14, 2012 Featured Publication Medulloblastoma (MB) is the most common malignant brain tumor in children. Patients whose tumors exhibit overexpression or amplification of the MYC oncogene (c-MYC) usually have an extremely poor prognosis, but there are no animal models of this subtype of ... Full text Link to item Cite

Biomarker discovery in central nervous system neoplasms: Past, present and future

Chapter · January 1, 2012 Brain tumor biomarkers have long been used as diagnostic tools; they are now finally being brought to bear as therapeutic elements in the fight against brain cancer. Because of the heterogeneity of glial brain tumors, it is clear that no one marker will ev ... Full text Cite

Radioimmunotargeting of malignant glioma by monoclonal antibody D2C7 reactive against both wild-type and variant III mutant epidermal growth factor receptors.

Journal Article Nucl Med Biol · January 2012 Featured Publication INTRODUCTION: Malignant glioma remains a significant therapeutic challenge, and immunotherapeutics might be a beneficial approach for these patients. A monoclonal antibody (MAb) specific for multiple molecular targets could expand the treatable patient pop ... Full text Link to item Cite

Fluctuating response of a cystic vestibular schwannoma to radiosurgery: case report.

Journal Article Neurosurgery · May 2008 Featured Publication OBJECTIVE: A vestibular schwannoma (VS) is a benign tumor of the VIIIth cranial nerve that can often be treated by microsurgery or radiosurgery and demonstrates high tumor control rates. Radiosurgery is typically performed as gamma knife surgery (GKS), alt ... Full text Link to item Cite

Epidermal growth factor receptor expression and gene copy number in conventional hepatocellular carcinoma.

Journal Article Am J Clin Pathol · February 2008 Featured Publication Epidermal growth factor receptor (EGFR) is frequently overexpressed in hepatocellular carcinoma, but its relationship with EGFR gene copy number has not been studied. This study examined EGFR expression and gene copy number in hepatocellular carcinoma and ... Full text Link to item Cite

Comparison of the Dako EGFR pharmDx kit and Zymed EGFR antibody for assessment of EGFR status in colorectal adenocarcinoma.

Journal Article Appl Immunohistochem Mol Morphol · September 2007 Featured Publication Immunohistochemistry is widely used to assess epidermal growth factor receptor (EGFR) expression on colorectal carcinomas to select patients for treatment with cetuximab, an anti-EGFR antibody. The data comparing different commercial EGFR antibodies is lim ... Full text Link to item Cite

Epidermal growth factor receptor expression and gene copy number in fibrolamellar hepatocellular carcinoma.

Journal Article Hum Pathol · April 2006 Featured Publication Increased expression of epidermal growth factor receptor (EGFR), a transmembrane tyrosine kinase, is associated with tumor progression in many carcinomas. Epidermal growth factor receptor inhibitors have shown promise in treating some of these tumors. Fibr ... Full text Link to item Cite

Transcription factor LKLF is sufficient to program T cell quiescence via a c-Myc-dependent pathway.

Journal Article Nat Immunol · August 2001 Featured Publication T lymphocytes circulate in a quiescent state until they encounter cognate antigen bound to the surface of an antigen-presenting cell. The molecular pathways that regulate T cell quiescence remain largely unknown. Here we show that forced expression of the ... Full text Link to item Cite