Marina A. Bakay

Suppressor of Cytokine Signaling Mimetics as a Therapeutic Approach in Autoimmune Encephalitis

Rahul Pandey, Marina A. Bakay, Hakon H. Hakonarson

Autoimmune encephalitis (AE) is a debilitating neurological condition characterized by the immune system's attack on neuronal cells, often leading to significant cognitive and neurological impairments. Autoantibodies, particularly those targeting N-methyl-D-aspartate receptors (NMDAR), are linked to the disease. Additionally, cytokine dysregulation has been …

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Abstract 14779: Whole Exome Sequencing Study in Pediatric Postural Orthostatic Tachycardia Syndrome Unveils a Path Forward From Genes to Drugs

Hui‐Qi Qu, Joseph Glessner, Xiao Chang, Frank D. Mentch et autres

Introduction: Postural orthostatic tachycardia syndrome (POTS) is more common in Caucasian individuals with a positive family history, while the risk in females is ~4-times of that in males. To date, the etiology of POTS is poorly understood. Hypothesis: Integrative sequencing and translational …

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SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis

Rahul Pandey, Marina A. Bakay, Hakon H. Hakonarson

Autoimmune diseases arise from atypical immune responses that attack self-tissue epitopes, and their development is intricately connected to the disruption of the JAK-STAT signaling pathway, where SOCS proteins play crucial roles. Conditions such as autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis exhibit …

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CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration

Rahul Pandey, Marina A. Bakay, Hakon H. Hakonarson

CLEC16A is emerging as an important genetic risk factor for several autoimmune disorders and for Parkinson disease (PD), opening new avenues for translational research and therapeutic development. While the exact role of CLEC16A in health and disease is still being elucidated, the …

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Poster: CML-363 Recent Perspective of Next-Generation Sequencing (NGS) in Non-BCR::ABL Mechanisms of Resistance in Patients With Chronic Myeloid Leukemia

Daria Kustova, Ekaterina Motyko, Anna Kirienko, Marina A. Bakay et autres

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CML-363 Recent Perspective of Next-Generation Sequencing (NGS) in Mechanisms of Resistance in Patients With Chronic Myeloid Leukemia

Daria Kustova, Ekaterina Motyko, Anna Kirienko, Marina A. Bakay et autres

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Inducible knockout of Clec16a in mice results in sensory neurodegeneration

Heather S. Hain, Rahul Pandey, Marina A. Bakay, Bryan P. Strenkowski et autres

Abstract CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16aΔUBC mice, to investigate the loss of function of CLEC16A. The mice …

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JAK/STAT inhibitor therapy partially rescues the lipodystrophic autoimmune phenotype in Clec16a KO mice

Rahul Pandey, Marina A. Bakay, Bryan P. Strenkowski, Heather S. Hain et autres

Abstract CLEC16A is implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout (KO), Clec16aΔUBC mice to address the role of CLEC16A loss of function. KO mice exhibited loss of adipose tissue and severe weight loss in response to defective autophagic …

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Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma

Xiao Chang, Marina A. Bakay, Yichuan Liu, Joseph Glessner et autres

BACKGROUND: Neuroblastoma is a childhood malignancy that arises from the developing sympathetic nervous system. Although mitochondrial dysfunctions have been implicated in the pathophysiology of neuroblastoma, the role of mitochondrial DNA (mtDNA) has not been extensively investigated. METHODS: A total of 2404 Caucasian …

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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Joseph Glessner, Bradley P. Coe, Jin Li, Maedeh Mohebnasab et autres

Abstract Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry, using SNP …

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The Genetic Contribution to Type 1 Diabetes

Marina A. Bakay, Rahul Pandey, Struan F.A. Grant, Hakon H. Hakonarson

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The Autoimmune Disorder Susceptibility Gene CLEC16A Restrains NK Cell Function in YTS NK Cell Line and Clec16a Knockout Mice

Rahul Pandey, Marina A. Bakay, Heather S. Hain, Bryan P. Strenkowski et autres

CLEC16A locus polymorphisms have been associated with several autoimmune diseases. We overexpressed CLEC16A in YTS natural killer (NK) cells and observed reduced NK cell cytotoxicity and IFN-release, delayed dendritic cell (DC) maturation, decreased conjugate formation, cell-surface receptor downregulation and increased autophagy. In …

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