Explanipedia

Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S Open

Sandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, Caroline E. Johnson, Haimeng Bai , et al. · 2025

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting Open

Yasuo Kubota, Xiaorong Gu, Laila Terkawi, Juraj Bodo, Bartlomiej Przychodzen , et al. · 2024

PHF6 mutations ( PHF6 MT ) are identified in various myeloid neoplasms (MN). However, little is known about the precise function and consequences of PHF6 in MN. Here we show three main findings in our comprehensive genomic and proteomic st…

Preclinical evaluation of JAK2 specific investigational oligonucleotide for the treatment of MDS/PV. Open

Bartlomiej Przychodzen, Sandra Smieszek · 2023

122 Background: Myeloproliferative disorders (MPD) are clonal hematopoietic stem cell malignancies with cytokine independency or hypersensitivity. Polycythemia vera (PV), an acquired MPD characterized by increased blood cell mass and hemat…

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative Open

Guillaume Butler‐Laporte, Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas , et al. · 2022

Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants wi…

Identification of potential COVID-19 treatment compounds which inhibit SARS Cov2 prototypic, Delta and Omicron variant infection Open

Prabhakaran Kumar, Manikannan Mathayan, Sandra Smieszek, Bartlomiej Przychodzen, Vuk Koprivica , et al. · 2022

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative Open

Guillaume Butler‐Laporte, Gundula Povysil, Jack A. Kosmicki, Elizabeth T. Cirulli, Theodore G. Drivas , et al. · 2022

Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants wi…

Dual Inhibition of Cathepsin L and 3CL-Pro by GC-376 Constrains SARS Cov2 Infection Including Omicron Variant Open

Prabhakaran Kumar, Kiira Ratia, Justin M. Richner, Gregory R. J. Thatcher, Rashmi Kadam , et al. · 2022

Recurrent waves of SARS CoV2 infections remain a major global health concern. Emergence of highly infectious variants with reduced sensitivity to neutralization by vaccines and monoclonal antibodies (mAb) necessitates a deeper understandin…

Elevated plasma levels of CXCL16 in severe COVID-19 patients Open

Sandra Smieszek, Vasilios M. Polymeropoulos, Christos Polymeropoulos, Bartlomiej Przychodzen, Gunther Birznieks , et al. · 2022

Genome-wide association studies have recently identified 3p21.31, with lead variant pointing to the CXCR6 gene, as the strongest thus far reported susceptibility risk locus for severe manifestation of COVID-19. In order the determine its r…

Corrigendum to “Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients” [Cytokine 148 (2021) 155662] Open

Sandra Smieszek, Bartlomiej Przychodzen, Vasilios M. Polymeropoulos, Bushra Mina, Christos Polymeropoulos , et al. · 2021

Elevated plasma levels of CXCL16 in severe COVID-19 patients Open

Sandra Smieszek, Vasilios M. Polymeropoulos, Christos Polymeropoulos, Bartlomiej Przychodzen, Gunther Birznieks , et al. · 2021

Genome-wide association studies have recently identified 3p21.31, with lead variant pointing to the CXCR6 gene, as the strongest thus far reported susceptibility risk locus for severe manifestation of COVID-19. In order the determine its r…

PBRM1 loss in kidney cancer unbalances the proximal tubule master transcription factor hub to repress proximal tubule differentiation Open

Xiaorong Gu, Francis Enane, Rita Tohmé, Caroline Schuerger, Tomas Radivoyevitch , et al. · 2021

Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients’ Open

Sandra Smieszek, Bartlomiej Przychodzen, Vasilios M. Polymeropoulos, Christos Polymeropoulos, Mihael H. Polymeropoulos · 2021

Role of FYVE and Coiled-Coil Domain Autophagy Adaptor 1 in severity of COVID-19 infection Open

Sandra Smieszek, Bartlomiej Przychodzen, Christos Polymeropoulos, Vasilios M. Polymeropoulos, Mihael H. Polymeropoulos · 2021

Coronaviruses remodel intracellular membranes to form specialized viral replication compartments, such as double-membrane vesicles where viral RNA genome replication takes place. Understanding the factors affecting host response is instrum…

Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis Open

Sandra Smieszek, Bartlomiej Przychodzen, Sarah E Welsh, Jennifer L. Brzezynski, Alyssa R. Kaden , et al. · 2021

Neurokinin‐1 receptor antagonist tradipitant has mixed effects on itch in atopic dermatitis: results from EPIONE, a randomized clinical trial Open

Sarah E Welsh, Chao Xiao, Alyssa R. Kaden, Jennifer L. Brzezynski, Michael Mohrman , et al. · 2020

Atopic dermatitis (AD) is a relapsing and remitting disease characterized by intense pruritus that can lead to scratching and eczematous lesions that vary in extent and severity.1 Over 60% of AD cases are mild, characterized by slight eryt…

Neurokinin-1 receptor antagonist tradipitant improves itch associated with mild atopic dermatitis: Results from EPIONE a randomized clinical trial Open

Sarah E Welsh, Changfu Xiao, Michael Mohrman, Alyssa R. Kaden, Jennifer L. Brzezynski , et al. · 2020

Importance Safe oral systemic treatments are needed to treat itch associated with atopic dermatitis (AD). Objective To examine the efficacy and safety of tradipitant, a neurokinin-1 receptor antagonist, in adults with mild to severe AD. De…

“Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale based endotypes in atopic dermatitis” Open

Sandra Smieszek, Bartlomiej Przychodzen, Sarah E Welsh, Jennifer L. Brzezynski, Alyssa R. Kaden , et al. · 2020

ABTRACT Background Atopic dermatitis (AD) is a heritable and heterogeneous inflammatory chronic skin disorder. Utilizing decision tree/supervised learning of extensive clinical, molecular and genetic data, we aimed to define distinct AD en…

Distinctive and common features of moderate aplastic anaemia Open

Bhumika J. Patel, Shimoli V. Barot, Teodora Kuzmanovic, Cassandra M Kerr, Bartlomiej Przychodzen , et al. · 2020

Summary The therapy algorithm for severe aplastic anaemia (sAA) is established but moderate AA (mAA), which likely reflects a more diverse pathogenic mechanism, often represents a treatment/management conundrum. A cohort of AA patients ( n…

Rare germline variant contributions to myeloid malignancy susceptibility Open

Samuel T. Li, Janet Wang, Ruipeng Wei, Ruqi Shi, Vera Ademà , et al. · 2020

Therapy-related acute lymphoblastic leukemia is a distinct entity with adverse genetic features and clinical outcomes Open

Caner Saygin, Ashwin Kishtagari, Ryan D. Cassaday, Natalie Reizine, Ilana R. Yurkiewicz , et al. · 2019

Patients with therapy-related acute lymphoblastic leukemia (t-ALL) represent a small subset of acute lymphoblastic leukemia (ALL) patients who received genotoxic therapy (ie, chemotherapy or radiation) for a prior malignancy. These patient…

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes Open

Yasunobu Nagata, Hideki Makishima, Cassandra M Kerr, Bartlomiej Przychodzen, Mai Aly , et al. · 2019

Myelodysplastic syndromes (MDS) arise in older adults through stepwise acquisitions of multiple somatic mutations. Here, analyzing 1809 MDS patients, we infer clonal architecture by using a stringent, the single-cell sequencing validated P…

Non-del(5q) myelodysplastic syndromes–associated loci detected by SNP-array genome-wide association meta-analysis Open

Kathy L. McGraw, Chia‐Ho Cheng, Y. Ann Chen, Hsin‐An Hou, Björn Nilsson , et al. · 2019

Key Points We report here the findings from the first known MDS genome-wide association study and meta-analysis identifying 8 unique loci. Genes harboring suggested MDS-associated loci, including EYA2, are innate immune regulators and may …

Genomics of therapy-related myeloid neoplasms Open

Teodora Kuzmanovic, Bhumika J. Patel, Srinivasa Reddy Sanikommu, Yasunobu Nagata, Hassan Awada , et al. · 2019

The novel autophagy inhibitor ROC-325 augments the antileukemic activity of azacitidine Open

Steffan T. Nawrocki, Yingchun Han, Valeria Visconte, Bartlomiej Przychodzen, Claudia M. Espitia , et al. · 2019

Distinct clinical and biological implications of CUX1 in myeloid neoplasms Open

Mai Aly, Zubaidah M. Ramdzan, Yasunobu Nagata, Suresh Kumar Balasubramanian, Naoko Hosono , et al. · 2019

Somatic mutations of the CUT-like homeobox 1 (CUX1) gene (CUX1MT) can be found in myeloid neoplasms (MNs), in particular, in myelodysplastic syndromes (MDSs). The CUX1 locus is also deleted in 3 of 4 MN cases with −7/del(7q). A cohort of 1…

S135 NGS‐BASED COPY‐NUMBER ANALYSIS IN MORE THAN 2,000 PATIENTS WITH MYELOID NEOPLASMS Open

Ryunosuke Saiki, Yusuke Shiozawa, Tetsuichi Yoshizato, Yasuhito Nanya, June Takeda , et al. · 2019

Background: Copy‐number alteration (CNA) is a hallmark of cancer genomes and has been implicated in the development of human cancers, including myeloid neoplasms. We developed a novel, next‐generation sequencing‐based platform for highly s…

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis Open

Satish K. Nandakumar, Sean McFarland, Laura M. Mateyka, Caleb A. Lareau, Jacob C. Ulirsch , et al. · 2019

Genome-wide association studies (GWAS) have identified thousands of variants associated with human diseases and traits. However, the majority of GWAS-implicated variants are in non-coding regions of the genome and require in depth follow-u…

Author response: Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis Open

Satish K. Nandakumar, Sean McFarland, Laura M. Mateyka, Caleb A. Lareau, Jacob C. Ulirsch , et al. · 2019

Development of a Cx46 Targeting Strategy for Cancer Stem Cells Open

Erin E. Mulkearns-Hubert, Luke A. Torre-Healy, Daniel J. Silver, Jennifer T. Eurich, Defne Bayık , et al. · 2019

Gap-junction-mediated cell-cell communication enables tumor cells to synchronize complex processes. We previously found that glioblastoma cancer stem cells (CSCs) express higher levels of the gap junction protein Cx46 compared to non-stem …

Subclonal STAT3 mutations solidify clonal dominance Open

Cassandra M Kerr, Michael J. Clemente, Peter Chomczynski, Bartlomiej Przychodzen, Yasunobu Nagata , et al. · 2019

T large granular lymphocyte leukemia (T-LGLL) is a clonal lymphoproliferative disorder that can arise in the context of pathologic or physiologic cytotoxic T-cell (CTL) responses. STAT3 mutations are often absent in typical T-LGLL, suggest…

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