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Author Details

Seth L Alper
Beth Israel Deaconess Medical Center RN380F
1978
351
71
PMIDPaper TitleJournal TitlePublished Year
36097331A neural stem cell paradigm of pediatric hydrocephalus.Cereb Cortex2023
37802664Human genetics and molecular genomics of Chiari malformation type 1.Trends Mol Med2023
37482902Blockade of the mineralocorticoid receptor improves markers of human endothelial cell dysfunction and hematological indices in a mouse model of sickle cell disease.FASEB J2023
37890181Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis.J Neurosurg Pediatr2023
37978175Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Nat Commun2023
36993720A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.medRxiv2023
36993588Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.bioRxiv2023
37059330Computational drug repositioning of clopidogrel as a novel therapeutic option for focal segmental glomerulosclerosis.Transl Res2023
36449077Apolipoprotein L1 (APOL1) cation current in HEK-293 cells and in human podocytes.Pflugers Arch2023
36879130Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nat Med2023
36803604The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.Cell2023
36571463OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.Genet Med2023
34779027Nobel prize in physiology or medicine 2021, receptors for temperature and touch: Implications for hematology.Am J Hematol2022
35741440Effect of Nitric Oxide Pathway Inhibition on the Evolution of Anaphylactic Shock in Animal Models: A Systematic Review.Biology (Basel)2022
35445032Dysregulated Erythroid Mg<sup>2+</sup> Efflux in Type 2 Diabetes.Front Cell Dev Biol2022
35443567Hereditary anemia caused by multilocus inheritance of <i>PIEZO1</i>, <i>SLC4A1</i> and <i>ABCB6</i> mutations: a diagnostic and therapeutic challenge.Haematologica2022
35379995Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.Nat Neurosci2022
35851763Activation of 2-oxoglutarate receptor 1 (OXGR1) by α-ketoglutarate (αKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes.Physiol Rep2022
35848620The erythroid K-Cl cotransport inhibitor [(dihydroindenyl)oxy]acetic acid blocks erythroid Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4.Am J Physiol Cell Physiol2022
36271464Can KCa3.1 channel activators serve as novel inhibitors of platelet aggregation?J Thromb Haemost2022
36331552Magnesium homeostasis in deoxygenated sickle erythrocytes is modulated by endothelin-1 via Na<sup>+</sup> /Mg<sup>2+</sup> exchange.FASEB J2022
36290359Combined Treatment with KV Channel Inhibitor 4-Aminopyridine and either γ-Cystathionine Lyase Inhibitor β-Cyanoalanine or Epinephrine Restores Blood Pressure, and Improves Survival in the Wistar Rat Model of Anaphylactic Shock.Biology (Basel)2022
36282916ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit.Proc Natl Acad Sci U S A2022
35274823Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes.Physiol Rep2022
35169901Purinergic signaling is essential for full Psickle activation by hypoxia and by normoxic acid pH in mature human sickle red cells and in vitro-differentiated cultured human sickle reticulocytes.Pflugers Arch2022
34990576Brain ventricles as windows into brain development and disease.Neuron2022
35232775DGAT2 Inhibition Potentiates Lipid Droplet Formation To Reduce Cytotoxicity in APOL1 Kidney Risk Variants.J Am Soc Nephrol2022
34893504Monitoring Daily Ultrafiltration in Automated Peritoneal Dialysis.Clin J Am Soc Nephrol2022
34109777A <i>Grammastola spatulata</i> mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.Haematologica2021
33597140Countermeasures against COVID-19: how to navigate medical practice through a nascent, evolving evidence base - a European multicentre mixed methods study.BMJ Open2021
35052580Adaptative Up-Regulation of PRX2 and PRX5 Expression Characterizes Brain from a Mouse Model of Chorea-Acanthocytosis.Antioxidants (Basel)2021
34433641Lithium preserves peritoneal membrane integrity by suppressing mesothelial cell αB-crystallin.Sci Transl Med2021
34625286PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.Trends Neurosci2021
34768199Trpv1 and Trpa1 are not essential for Psickle-like activity in red cells of the SAD mouse model of sickle cell disease.Blood Cells Mol Dis2021
33941276Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.Acta Neuropathol Commun2021
34125151DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.JAMA Neurol2021
34098564Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.Am J Nephrol2021
34261517Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.Genome Med2021
34232380Genomics of human congenital hydrocephalus.Childs Nerv Syst2021
34164718Inflammatory hydrocephalus.Childs Nerv Syst2021
32540856Phosphorylation of ACTN4 Leads to Podocyte Vulnerability and Proteinuric Glomerulosclerosis.J Am Soc Nephrol2020
31931456Corrigendum to "Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease" [Blood Cells Mol. Dis. (2019) start page-end page not yet assigned] https://doi.org/10.1016/j.bcmd.2019.102346.Blood Cells Mol Dis2020
31959358Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.Kidney Int2020
31924668FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.J Am Soc Nephrol2020
31835175Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia.Blood Cells Mol Dis2020
33334074Peritoneal Dialysis Fluid Supplementation with Alanyl-Glutamine Attenuates Conventional Dialysis Fluid-Mediated Endothelial Cell Injury by Restoring Perturbed Cytoprotective Responses.Biomolecules2020
33077954Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Nat Med2020
33294858A High-Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury.Cell Rep Med2020
32637960A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemic.bioRxiv2020
32859919Disruption of Cav1.2-mediated signaling is a pathway for ketamine-induced pathology.Nat Commun2020
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Collaborators

Martin R Pollak
Co-authored papers 16
David J Friedman
Co-authored papers 16
Richard P Lifton
The Rockefeller University
Co-authored papers 11
Murat Gunel
Yale School of Medicine
Co-authored papers 9
Shrikant Mane
Yale School of Medicine
Co-authored papers 9
Seigo Izumo
Beth Israel Deaconess Medical Center.
Co-authored papers 7
Carmen C Brewer
Co-authored papers 6
Christopher K Zalewski
Co-authored papers 6
Dandan Sun
Co-authored papers 5
Christopher Castaldi
Yale Center for Genome Analysis, Yale School of Medicine
Co-authored papers 5
Nenad Sestan
Yale School of Medicine
Co-authored papers 5
Daniel H Geschwind
University of California los angeles
Co-authored papers 5
Kelly A King
Co-authored papers 5
Shozeb Haider
Co-authored papers 5
Anna Greka
Co-authored papers 4
Irina R Tikhonova
School of Pharmacy, Queen's University Belfast
Co-authored papers 4
Abdelouahab Bellou
Southern Medical University
Co-authored papers 4
Jay M Baltz
Ottawa Hospital Research Institute
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Phillip B Storm
Children's Hospital of Philadelphia
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Francesc L??pez-Gir??ldez
Yale Center for Genomic Analysis
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Isaac E Stillman
Mount Sinai Hospital
Co-authored papers 4
Benjamin D Humphreys
Washington University in St. Louis School of Medicine
Co-authored papers 4
Kamal R Khabbaz
Beth Israel Deaconess Medical Center
Co-authored papers 3
Nader Rifai
Co-authored papers 3
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 3
Bob S Carter
Massachusetts General Hospital and Harvard Medical School
Co-authored papers 3
Jeffrey B Kopp
National Institutes of Health, National Institute of Diabetes
Co-authored papers 3
Christopher J Stapleton
Harvard Medical School
Co-authored papers 3
Christopher A Walsh
Broad Institute of MIT and Harvard
Co-authored papers 3
Subbian Ananth Karumanchi
Co-authored papers 3
Release 1.2