Sandro Santagata, MD
Neuropathology, Department of Pathology
Assistant Professor of Pathology, Harvard Medical School
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Sandro Santagata, MD
Neuropathology, Department of Pathology
Assistant Professor of Pathology, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Neuroscience
Amherst College
1993
Graduate School
PhD, Molecular Basis of Disease
Mount Sinai Medical School
2002
New York
NY
Medical School
Mount Sinai Medical School
2002
New York
NY
Internship
Mount Sinai Medical School
2003
New York
NY
Residency
Anatomic Pathology
Brigham and Women's Hospital
2005
Boston
MA
Fellowship
Neuropathology
Brigham and Women's Hospital
2007
Boston
MA
Certifications
American Board of Pathology (Neuropathology)
Publications
Imlunestrant a next-generation oral SERD overcomes ESR1 mutant resistance in estrogen receptor-positive breast cancer. View Abstract
ZNFX1 Functions as a Master Regulator of Epigenetically Induced Pathogen Mimicry and Inflammasome Signaling in Cancer. View Abstract
Sharing data from the Human Tumor Atlas Network through standards, infrastructure and community engagement. View Abstract
Transplantation of human kidney organoids elicited a robust allogeneic response in a humanized mouse model. View Abstract
Phase I Study of Adavosertib with Radiotherapy and Temozolomide in Newly Diagnosed Glioblastoma and Intratumoral Drug Levels in Recurrent Glioblastoma. View Abstract
Multiomic analysis identifies suppressive myeloid cell populations in human TB granulomas. View Abstract
Papillary Craniopharyngioma: An Integrative and Comprehensive Review. View Abstract
A window-of-opportunity trial reveals mechanisms of response and resistance to navtemadlin in patients with recurrent glioblastoma. View Abstract
cIMPACT-NOW update 8: Clarifications on molecular risk parameters and recommendations for WHO grading of meningiomas. View Abstract
Contemporary prognostic signatures and refined risk stratification of gliomas: An analysis of 4400 tumors. View Abstract
Multimodal Spatial Profiling Reveals Immune Suppression and Microenvironment Remodeling in Fallopian Tube Precursors to High-Grade Serous Ovarian Carcinoma. View Abstract
Skin immune-mesenchymal interplay within tertiary lymphoid structures promotes autoimmune pathogenesis in hidradenitis suppurativa. View Abstract
Pilot Trial of Perampanel on Peritumoral Hyperexcitability in Newly Diagnosed High-grade Glioma. View Abstract
Epigenetic and Oncogenic Inhibitors Cooperatively Drive Differentiation and Kill KRAS-Mutant Colorectal Cancers. View Abstract
Ovarian cancer-derived IL-4 promotes immunotherapy resistance. View Abstract
Quality control for single-cell analysis of high-plex tissue profiles using CyLinter. View Abstract
ZNFX1 is a Novel Master Regulator in Epigenetically-induced Pathogen Mimicry and Inflammasome Signaling in Cancer. View Abstract
AKT and EZH2 inhibitors kill TNBCs by hijacking mechanisms of involution. View Abstract
Multimodal Spatial Profiling Reveals Immune Suppression and Microenvironment Remodeling in Fallopian Tube Precursors to High-Grade Serous Ovarian Carcinoma. View Abstract
Integrating spatial profiles and cancer genomics to identify immune-infiltrated mismatch repair proficient colorectal cancers. View Abstract
Sharing Data from the Human Tumor Atlas Network through Standards, Infrastructure, and Community Engagement. View Abstract
Pure estrogen receptor antagonists potentiate capecitabine activity in ESR1-mutant breast cancer. View Abstract
Pilot trial of perampanel on peritumoral hyperexcitability and clinical outcomes in newly diagnosed high-grade glioma. View Abstract
STMND1 is a phylogenetically ancient stathmin which localizes to motile cilia and exhibits nuclear translocation that is inhibited when soluble tubulin concentration increases. View Abstract
Phase II Study of Eribulin plus Pembrolizumab in Metastatic Soft-tissue Sarcomas: Clinical Outcomes and Biological Correlates. View Abstract
Multiplexed 3D Analysis of Immune States and Niches in Human Tissue. View Abstract
NAB2::STAT6 fusions and genome-wide DNA methylation profiling: Predictors of patient outcomes in meningeal solitary fibrous tumors. View Abstract
Quality Control for Single Cell Analysis of High-plex Tissue Profiles using CyLinter. View Abstract
Systematic characterization of antibody-drug conjugate targets in central nervous system tumors. View Abstract
Integrating Systemic Therapies into the Multimodality Therapy of Patients with Craniopharyngioma. View Abstract
Cell state dependent effects of Bmal1 on melanoma immunity and tumorigenicity. View Abstract
Genomic and Immunophenotypic Landscape of Acquired Resistance to PD-(L)1 Blockade in Non-Small-Cell Lung Cancer. View Abstract
Qualification of a multiplexed tissue imaging assay and detection of novel patterns of HER2 heterogeneity in breast cancer. View Abstract
Comprehensive analysis reveals potential therapeutic targets and an integrated risk stratification model for solitary fibrous tumors. View Abstract
Cell Spotter (CSPOT): A machine-learning approach to automated cell spotting and quantification of highly multiplexed tissue images. View Abstract
2D and 3D multiplexed subcellular profiling of nuclear instability in human cancer. View Abstract
Targeted gene expression profiling predicts meningioma outcomes and radiotherapy responses. View Abstract
Endocrine Therapy Synergizes with SMAC Mimetics to Potentiate Antigen Presentation and Tumor Regression in Hormone Receptor-Positive Breast Cancer. View Abstract
Inaugural Results of the Individualized Screening Trial of Innovative Glioblastoma Therapy: A Phase II Platform Trial for Newly Diagnosed Glioblastoma Using Bayesian Adaptive Randomization. View Abstract
Genomic analysis of spinal meningiomas: correlation with histopathological grade. View Abstract
A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4. View Abstract
Impact of H3K27 trimethylation loss in meningiomas: a meta-analysis. View Abstract
Chemical QuantArray: A Quantitative Tool for Mass Spectrometry Imaging. View Abstract
BRAF-MEK Inhibition in Newly Diagnosed Papillary Craniopharyngiomas. View Abstract
High-plex immunofluorescence imaging and traditional histology of the same tissue section for discovering image-based biomarkers. View Abstract
Meet the authors: Dr. Clint Allen and Dr. Sandro Santagata. View Abstract
Lymphocyte networks are dynamic cellular communities in the immunoregulatory landscape of lung adenocarcinoma. View Abstract
USP9X mediates an acute adaptive response to MAPK suppression in pancreatic cancer but creates multiple actionable therapeutic vulnerabilities. View Abstract
Targeted gene expression profiling predicts meningioma outcomes and radiotherapy responses. View Abstract
Hypermitotic meningiomas harbor DNA methylation subgroups with distinct biological and clinical features. View Abstract
Multiplexed 3D atlas of state transitions and immune interaction in colorectal cancer. View Abstract
Visinity: Visual Spatial Neighborhood Analysis for Multiplexed Tissue Imaging Data. View Abstract
UnMICST: Deep learning with real augmentation for robust segmentation of highly multiplexed images of human tissues. View Abstract
Spatial genomics maps the structure, nature and evolution of cancer clones. View Abstract
Alliance A071401: Phase II Trial of Focal Adhesion Kinase Inhibition in Meningiomas With Somatic NF2 Mutations. View Abstract
Stitching and registering highly multiplexed whole-slide images of tissues and tumors using ASHLAR. View Abstract
Oncometabolite d-2HG alters T cell metabolism to impair CD8+ T cell function. View Abstract
Spatial transcriptomics. View Abstract
PD-L1 and PD-1 expression in pediatric central nervous system germ cell tumors. View Abstract
Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma. View Abstract
Clinical utility of targeted next-generation sequencing assay in IDH-wildtype glioblastoma for therapy decision-making. View Abstract
The Spatial Landscape of Progression and Immunoediting in Primary Melanoma at Single-Cell Resolution. View Abstract
A human breast atlas integrating single-cell proteomics and transcriptomics. View Abstract
A molecularly integrated grade for meningioma. View Abstract
Copper induces cell death by targeting lipoylated TCA cycle proteins. View Abstract
HSF2 cooperates with HSF1 to drive a transcriptional program critical for the malignant state. View Abstract
Temporal and spatial topography of cell proliferation in cancer. View Abstract
Phase 2 study of pembrolizumab in patients with recurrent and residual high-grade meningiomas. View Abstract
MITI minimum information guidelines for highly multiplexed tissue images. View Abstract
Single-cell tumor-immune microenvironment of BRCA1/2 mutated high-grade serous ovarian cancer. View Abstract
Activity of PD-1 blockade with nivolumab among patients with recurrent atypical/anaplastic meningioma: phase II trial results. View Abstract
Multimodal platform for assessing drug distribution and response in clinical trials. View Abstract
Scope2Screen: Focus+Context Techniques for Pathology Tumor Assessment in Multivariate Image Data. View Abstract
MCMICRO: a scalable, modular image-processing pipeline for multiplexed tissue imaging. View Abstract
Skull Base Tumors: Neuropathology and Clinical Implications. View Abstract
Narrative online guides for the interpretation of digital-pathology images and tissue-atlas data. View Abstract
Antigen dominance hierarchies shape TCF1+ progenitor CD8 T cell phenotypes in tumors. View Abstract
Interim clinical trial analysis of intraoperative mass spectrometry for breast cancer surgery. View Abstract
Targeting Pin1 renders pancreatic cancer eradicable by synergizing with immunochemotherapy. View Abstract
Prognostication for meningiomas: H3K27me3 to the rescue? View Abstract
Palbociclib demonstrates intracranial activity in progressive brain metastases harboring cyclin-dependent kinase pathway alterations. View Abstract
Identification and Therapeutic Targeting of GPR20, Selectively Expressed in Gastrointestinal Stromal Tumors, with DS-6157a, a First-in-Class Antibody-Drug Conjugate. View Abstract
HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor. View Abstract
Sporadic multiple meningiomas harbor distinct driver mutations. View Abstract
Targeting immunosuppressive macrophages overcomes PARP inhibitor resistance in BRCA1-associated triple-negative breast cancer. View Abstract
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic. View Abstract
Minerva: a light-weight, narrative image browser for multiplexed tissue images. View Abstract
SYLARAS: A Platform for the Statistical Analysis and Visual Display of Systemic Immunoprofiling Data and Its Application to Glioblastoma. View Abstract
Author Correction: Immunogenomic profiling determines responses to combined PARP and PD-1 inhibition in ovarian cancer. View Abstract
Frequent inactivating mutations of the PBAF complex gene PBRM1 in meningioma with papillary features. View Abstract
The Human Tumor Atlas Network: Charting Tumor Transitions across Space and Time at Single-Cell Resolution. View Abstract
Mechanisms and therapeutic implications of hypermutation in gliomas. View Abstract
A Deregulated HOX Gene Axis Confers an Epigenetic Vulnerability in KRAS-Mutant Lung Cancers. View Abstract
Correction to: An update on the CNS manifestations of neurofibromatosis type 2. View Abstract
Genomic characterization of human brain metastases identifies drivers of metastatic lung adenocarcinoma. View Abstract
Immunogenomic profiling determines responses to combined PARP and PD-1 inhibition in ovarian cancer. View Abstract
Telomere length alterations and ATRX/DAXX loss in pituitary adenomas. View Abstract
Response and mechanisms of resistance to larotrectinib and selitrectinib in metastatic undifferentiated sarcoma harboring oncogenic fusion of NTRK1. View Abstract
HSF1 phase transition mediates stress adaptation and cell fate decisions. View Abstract
Highly multiplexed immunofluorescence images and single-cell data of immune markers in tonsil and lung cancer. View Abstract
Localized Metabolomic Gradients in Patient-Derived Xenograft Models of Glioblastoma. View Abstract
Qualifying antibodies for image-based immune profiling and multiplexed tissue imaging. View Abstract
Pre- and Postoperative Neratinib for HER2-Positive Breast Cancer Brain Metastases: Translational Breast Cancer Research Consortium 022. View Abstract
Targeted treatment of papillary craniopharyngiomas harboring BRAF V600E mutations. View Abstract
Rapid MALDI mass spectrometry imaging for surgical pathology. View Abstract
Author Correction: Mitochondrial metabolism promotes adaptation to proteotoxic stress. View Abstract
Rebalancing Protein Homeostasis Enhances Tumor Antigen Presentation. View Abstract
An update on the CNS manifestations of neurofibromatosis type 2. View Abstract
Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma. View Abstract
Mitochondrial metabolism promotes adaptation to proteotoxic stress. View Abstract
Individualized Screening Trial of Innovative Glioblastoma Therapy (INSIGhT): A Bayesian Adaptive Platform Trial to Develop Precision Medicines for Patients With Glioblastoma. View Abstract
The impact of histopathology and NAB2-STAT6 fusion subtype in classification and grading of meningeal solitary fibrous tumor/hemangiopericytoma. View Abstract
New molecular targets in meningiomas: the present and the future. View Abstract
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. View Abstract
Mismatch repair deficiency in high-grade meningioma: a rare but recurrent event associated with dramatic immune activation and clinical response to PD-1 blockade. View Abstract
Updates in prognostic markers for gliomas. View Abstract
Neuropathology of a Case With Fatal CAR T-Cell-Associated Cerebral Edema. View Abstract
Meningioma transcription factors link cell lineage with systemic metabolic cues. View Abstract
Rapid discrimination of pediatric brain tumors by mass spectrometry imaging. View Abstract
DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome. View Abstract
Highly multiplexed immunofluorescence imaging of human tissues and tumors using t-CyCIF and conventional optical microscopes. View Abstract
Multiplexed immunofluorescence reveals potential PD-1/PD-L1 pathway vulnerabilities in craniopharyngioma. View Abstract
Integrating Genomics Into Neuro-Oncology Clinical Trials and Practice. View Abstract
Uncovering the links between systemic hormones and oncogenic signaling in the pathogenesis of meningioma. View Abstract
A case of molecularly profiled extraneural medulloblastoma metastases in a child. View Abstract
Orbital leiomyosarcoma metastasis presenting prior to diagnosis of the primary tumor. View Abstract
Radiographic prediction of meningioma grade by semantic and radiomic features. View Abstract
BAP1 mutations in high-grade meningioma: implications for patient care. View Abstract
Nuclear CRX and FOXJ1 Expression Differentiates Non-Germ Cell Pineal Region Tumors and Supports the Ependymal Differentiation of Papillary Tumor of the Pineal Region. View Abstract
Osteoglycin promotes meningioma development through downregulation of NF2 and activation of mTOR signaling. View Abstract
Erratum: Genomic landscape of high-grade meningiomas. View Abstract
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. View Abstract
Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors. View Abstract
Genomic landscape of high-grade meningiomas. View Abstract
Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. View Abstract
Clinical and radiographic response following targeting of BCAN-NTRK1 fusion in glioneuronal tumor. View Abstract
Fatal Eastern Equine Encephalitis in a Patient on Maintenance Rituximab: A Case Report. View Abstract
Rapid Mass Spectrometry Imaging to Assess the Biochemical Profile of Pituitary Tissue for Potential Intraoperative Usage. View Abstract
Suppression of 19S proteasome subunits marks emergence of an altered cell state in diverse cancers. View Abstract
Potential evolution of neurosurgical treatment paradigms for craniopharyngioma based on genomic and transcriptomic characteristics. View Abstract
Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy. View Abstract
Susan Lindquist (1949-2016). View Abstract
Targeted sequencing of SMO and AKT1 in anterior skull base meningiomas. View Abstract
Increased expression of programmed death ligand 1 (PD-L1) in human pituitary tumors. View Abstract
Treatment of brain metastases in the modern genomic era. View Abstract
Landscape of Genomic Alterations in Pituitary Adenomas. View Abstract
Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes. View Abstract
SU-D-207B-02: Early Grade Classification in Meningioma Patients Combining Radiomics and Semantics Data. View Abstract
Checkpoint inhibition in meningiomas. View Abstract
Label-Free Neurosurgical Pathology with Stimulated Raman Imaging. View Abstract
Decreased FOXJ1 expression and its ciliogenesis programme in aggressive ependymoma and choroid plexus tumours. View Abstract
MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. View Abstract
Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma. View Abstract
Genomic landscape of intracranial meningiomas. View Abstract
Case-Based Review: meningioma. View Abstract
ENDOCRINE TUMORS: BRAF V600E mutations in papillary craniopharyngioma. View Abstract
Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy. View Abstract
Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets. View Abstract
Compromising the 19S proteasome complex protects cells from reduced flux through the proteasome. View Abstract
A prognostic cytogenetic scoring system to guide the adjuvant management of patients with atypical meningioma. View Abstract
MALDI mass spectrometry imaging analysis of pituitary adenomas for near-real-time tumor delineation. View Abstract
Profiling of adrenocorticotropic hormone and arginine vasopressin in human pituitary gland and tumor thin tissue sections using droplet-based liquid-microjunction surface-sampling-HPLC-ESI-MS-MS. View Abstract
Intraoperative Magnetic Resonance Imaging in Intracranial Glioma Resection: A Single-Center, Retrospective Blinded Volumetric Study. View Abstract
Expression profiles of 151 pediatric low-grade gliomas reveal molecular differences associated with location and histological subtype. View Abstract
ARID1A and TERT promoter mutations in dedifferentiated meningioma. View Abstract
Increased expression of the immune modulatory molecule PD-L1 (CD274) in anaplastic meningioma. View Abstract
Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma. View Abstract
Molecular typing of Meningiomas by Desorption Electrospray Ionization Mass Spectrometry Imaging for Surgical Decision-Making. View Abstract
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. View Abstract
HSP90 empowers evolution of resistance to hormonal therapy in human breast cancer models. View Abstract
Cross-reactivity of the BRAF VE1 antibody with epitopes in axonemal dyneins leads to staining of cilia. View Abstract
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5. View Abstract
Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas. View Abstract
Normal cell phenotypes of breast epithelial cells provide the foundation of a breast cancer taxonomy. View Abstract
Application of desorption electrospray ionization mass spectrometry imaging in breast cancer margin analysis. View Abstract
Successful Treatment of a Progressive BRAF V600E-Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy. View Abstract
The reprogramming of tumor stroma by HSF1 is a potent enabler of malignancy. View Abstract
Intraoperative mass spectrometry mapping of an onco-metabolite to guide brain tumor surgery. View Abstract
Adjuvant radiation therapy, local recurrence, and the need for salvage therapy in atypical meningioma. View Abstract
Artifacts to avoid while taking advantage of top-down mass spectrometry based detection of protein S-thiolation. View Abstract
Structure-activity relationships for withanolides as inducers of the cellular heat-shock response. View Abstract
Atypical presentation of cerebral schistosomiasis four years after exposure to Schistosoma mansoni. View Abstract
The master regulator of the cellular stress response (HSF1) is critical for orthopoxvirus infection. View Abstract
Taxonomy of breast cancer based on normal cell phenotype predicts outcome. View Abstract
Phase I/II study of erlotinib and temsirolimus for patients with recurrent malignant gliomas: North American Brain Tumor Consortium trial 04-02. View Abstract
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. View Abstract
Mass spectrometry imaging as a tool for surgical decision-making. View Abstract
Molecular imaging of drug transit through the blood-brain barrier with MALDI mass spectrometry imaging. View Abstract
Rapid, label-free detection of brain tumors with stimulated Raman scattering microscopy. View Abstract
Tight coordination of protein translation and HSF1 activation supports the anabolic malignant state. View Abstract
Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells. View Abstract
Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1. View Abstract
Eastern equine encephalitis in children, Massachusetts and New Hampshire,USA, 1970-2010. View Abstract
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. View Abstract
Ambient mass spectrometry for the intraoperative molecular diagnosis of human brain tumors. View Abstract
Inhibiting HSP90 to treat cancer: a strategy in evolution. View Abstract
Loss of tumor suppressor NF1 activates HSF1 to promote carcinogenesis. View Abstract
HSF1 drives a transcriptional program distinct from heat shock to support highly malignant human cancers. View Abstract
DNA fragmentation simulation method (FSM) and fragment size matching improve aCGH performance of FFPE tissues. View Abstract
Classifying human brain tumors by lipid imaging with mass spectrometry. View Abstract
Using the heat-shock response to discover anticancer compounds that target protein homeostasis. View Abstract
High levels of nuclear heat-shock factor 1 (HSF1) are associated with poor prognosis in breast cancer. View Abstract
Desorption electrospray ionization then MALDI mass spectrometry imaging of lipid and protein distributions in single tissue sections. View Abstract
Relapsing tumefactive lesion in an adult with medulloblastoma previously treated with chemoradiotherapy and stem cell transplant. View Abstract
Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas. View Abstract
BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implications. View Abstract
Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content. View Abstract
Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. View Abstract
Novel MPZ mutations and congenital hypomyelinating neuropathy. View Abstract
Controlled enzymatic production of astrocytic hydrogen peroxide protects neurons from oxidative stress via an Nrf2-independent pathway. View Abstract
Epidermal growth factor receptor gene amplification in atypical adenomatous hyperplasia of the lung. View Abstract
Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations. View Abstract
CRX is a diagnostic marker of retinal and pineal lineage tumors. View Abstract
Profiling critical cancer gene mutations in clinical tumor samples. View Abstract
Rapid selection of cyclic peptides that reduce alpha-synuclein toxicity in yeast and animal models. View Abstract
Phase II study of protracted daily temozolomide for low-grade gliomas in adults. View Abstract
Mycosis fungoides with leptomeningeal involvement. View Abstract
Embryonic stem cell transcription factor signatures in the diagnosis of primary and metastatic germ cell tumors. View Abstract
Post-irradiation meningioma with sarcoidosis. View Abstract
Anaplastic variant of medulloblastoma mimicking a vestibular schwannoma. View Abstract
Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG. View Abstract
Intramedullary neuroma of the cervicomedullary junction. Case report. View Abstract
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. View Abstract
JAGGED1 expression is associated with prostate cancer metastasis and recurrence. View Abstract
FokI requires two specific DNA sites for cleavage. View Abstract
G-protein signaling through tubby proteins. View Abstract
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. View Abstract
Recombinase activating gene enzymes of lymphocytes. View Abstract
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. View Abstract
The genetic and biochemical basis of Omenn syndrome. View Abstract
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. View Abstract
Definition of minimal domains of interaction within the recombination-activating genes 1 and 2 recombinase complex. View Abstract
Implication of tubby proteins as transcription factors by structure-based functional analysis. View Abstract
The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination. View Abstract
The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2. View Abstract
Molecular cloning and characterization of a mouse homolog of bacterial ClpX, a novel mammalian class II member of the Hsp100/Clp chaperone family. View Abstract
Omenn syndrome: a disorder of Rag1 and Rag2 genes. View Abstract
The effect of Me2+ cofactors at the initial stages of V(D)J recombination. View Abstract
Partial V(D)J recombination activity leads to Omenn syndrome. View Abstract
The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination View Abstract
Studies on the Physiology and Plasticity of the Binocular Visual Pathway in the Frog, Rana pipiens View Abstract
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