Explanipedia

Development of self-phenotyping tools to empower patients and improve diagnostics Open

Kent Shefchek, Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein , et al. · 2025

Exploring a Mechanism-Based Therapeutic Approach for ZC4H2 Haploinsufficiency Open

Camerron M. Crowder, Nathaniel Fehrmann, Aleksandra Foksinska, Annika Nicholl, Madeline Eckenrode , et al. · 2025

This report explores a therapeutic hypothesis for addressing the potential effects of a loss-of-function variant in the ZC4H2 gene. We describe a pediatric female (born 2020) with developmental delay associated with an early truncation var…

Reductive stress induces unresolved ER stress and proteotoxic cardiomyopathy Open

Sini Sunny, Rajesh Kumar Radhakrishnan, Asokan Devarajan, Juan Xavier Masjoan Juncos, Mohit Bansal , et al. · 2025

Exploring a Mechanism-Based Therapeutic Approach for ZC4H2 Haploinsufficiency Open

Camerron M. Crowder, Nathaniel Fehrmann, Aleksandra Foksinska, Annika Nicholl, Madeline Eckenrode , et al. · 2025

This report explores a therapeutic hypothesis for addressing the potential effects of a loss-of-function variant in the ZC4H2 gene. We describe a pediatric female (born 2020) with developmental delay associated with an early truncation var…

Anti-Parkinsonian Drugs Rescue Locomotor Deficits in JIP3 Knockout Zebrafish: Implications for Treating Patients with <i>MAPK8IP3</i>-related Neurodevelopmental Disorders Open

Aleksandra Foksinska, J. Paige Souder, Gabrielle Smith, K. A. Travis, Sienna Rucka , et al. · 2025

MAPK8IP3- related neurodevelopmental disorders are a spectrum of rare conditions caused by de novo mutations in the MAPK8IP3 gene that encodes the JIP3 protein. These disorders are associated with a spectrum of neurodevelopmental symptoms …

MAPK8IP3-related neurodevelopmental disorder: Case report and therapeutic rationale for a truncating variant Open

Camerron M. Crowder, Aleksandra Foksinska, Lindsay Jenkins, Madeline Eckenrode, Adam Jones , et al. · 2025

This report explores a therapeutic hypothesis for addressing the potential effects of a loss-of-function variant in the MAPK8IP3 gene. We describe a pediatric male with developmental delay associated with an early truncation variant in MAP…

MAPK8IP3-related neurodevelopmental disorder: case report and therapeutic rationale for a truncating variant Open

Camerron M. Crowder, Aleksandra Foksinska, Lindsay Jenkins, Madeline Eckenrode, Andrew B. Crouse , et al. · 2025

P362: Long-read genome sequencing to diagnose rare disease in a state-funded study Open

Whitley V. Kelley, Susan M. Hiatt, Irene Moss, Gregory M. Cooper, Anna Hurst , et al. · 2025

MAPK8IP3-Related Neurodevelopmental Disorder: Case Report and Therapeutic Rationale for a Truncating Variant Open

Camerron M. Crowder, Aleksandra Foksinska, Lindsay Jenkins, Madeline Eckenrode, Adam Jones , et al. · 2025

This report explores a therapeutic hypothesis for addressing the potential effects of a loss-of-function variant in the MAPK8IP3 gene. We describe a pediatric male with developmental delay associated with an early truncation variant in MAP…

Data-driven Cluster Analysis Reveals Increased Risk for Severe Insulin-deficient Diabetes in Black/African Americans Open

Brian Lu, Peng Li, Andrew B. Crouse, Tiffany Grimes, Matthew Might , et al. · 2024

Context Diabetes is a heterogenic disease and distinct clusters have emerged, but the implications for diverse populations have remained understudied. Objective Apply cluster analysis to a diverse diabetes cohort in the US Deep South. Desi…

Exercise mitigates reductive stress-induced cardiac remodeling in mice Open

Arun Jyothidasan, Sini Sunny, Asokan Devarajan, Aniqa Sayed, John Kofi Afortude , et al. · 2024

The endoplasmic reticulum (ER) regulates protein folding and maintains proteostasis in cells. We observed that the ER transcriptome is impaired during chronic reductive stress (RS) in cardiomyocytes. Here, we hypothesized that a prolonged …

Development of self-phenotyping tools to empower patients and improve diagnostics Open

Kent Shefchek, Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein , et al. · 2024

Deep phenotyping is important for improving diagnostics and rare diseases research and is especially effective when standardized using Human Phenotype Ontology (HPO). Patients are an under-utilized source of information, so to facilitate s…

Characteristics and determinants of pulmonary long COVID Open

Michael J. Patton, D. Benson, Sarah W. Robison, Dhaval Raval, Morgan L. Locy , et al. · 2024

BACKGROUNDPersistent cough and dyspnea are prominent features of postacute sequelae of SARS-CoV-2 (also termed "long COVID"); however, physiologic measures and clinical features associated with these pulmonary symptoms remain poorly define…

Characteristics and Determinants of Pulmonary Long COVID Open

Michael J. Patton, D. Benson, Sarah W. Robison, Raval Dhaval, Morgan L. Locy , et al. · 2024

RATIONALE Persistent cough and dyspnea are prominent features of post-acute sequelae of SARS-CoV-2 (termed ’Long COVID’); however, physiologic measures and clinical features associated with these pulmonary symptoms remain poorly defined. O…

A Primer in Precision Nephrology: Optimizing Outcomes in Kidney Health and Disease through Data-Driven Medicine Open

Pushkala Jayaraman, Andrew B. Crouse, Girish N. Nadkarni, Matthew Might · 2023

This year marks the 63rd anniversary of the International Society of Nephrology, which signaled nephrology's emergence as a modern medical discipline. In this article, we briefly trace the course of nephrology's history to show a clear arc…

Circulating SARS-CoV-2+ megakaryocytes are associated with severe viral infection in COVID-19 Open

Seth D. Fortmann, Michael J. Patton, Blake Frey, Jennifer L. Tipper, Sivani B. Reddy , et al. · 2023

Several independent lines of evidence suggest that megakaryocytes are dysfunctional in severe COVID-19. Herein, we characterized peripheral circulating megakaryocytes in a large cohort of inpatients with COVID-19 and correlated the subpopu…

Generation and characterization of NGLY1 patient-derived midbrain organoids Open

Joshua M. Abbott, Mitali A. Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen , et al. · 2023

NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms …

Are we prepared to deliver gene‐targeted therapies for rare diseases? Open

Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi C. MacKenzie, Melissa Wasserstein , et al. · 2023

The cost and time needed to conduct whole‐genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of inves…

COVID-19 bacteremic co-infection is a major risk factor for mortality, ICU admission, and mechanical ventilation Open

Michael J. Patton, Carlos J. Orihuela, Kevin S. Harrod, Mohammad Alfrad Nobel Bhuiyan, Paari Dominic , et al. · 2023

Background Recent single-center reports have suggested that community-acquired bacteremic co-infection in the context of Coronavirus disease 2019 (COVID-19) may be an important driver of mortality; however, these reports have not been vali…

The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren Open

Aleksandra Foksinska, Camerron M. Crowder, Andrew B. Crouse, Jeff Henrikson, William E. Byrd , et al. · 2022

There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulti…

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome Open

Alexander Kolevzon, Tess Levy, Sarah B. Barkley, Sandra Bedrosian‐Sermone, Matthew M. Davis , et al. · 2022

Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder. Preclinical evidence suggests that low-dose ketamine may induce expression of ADNP…

An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation Open

Trevor Sasserath, Ashley L. Robertson, Roxana Mendez, Tristan T. Hays, Ethan Smith , et al. · 2022

There are many neurological rare diseases where animal models have proven inadequate or do not currently exist. NGLY1 deficiency, a congenital disorder of deglycosylation, is a rare disease that predominantly affects motor control, especia…

Why rare disease needs precision medicine—and precision medicine needs rare disease Open

Matthew Might, Andrew B. Crouse · 2022

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling Open

Paul C. Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, Nghi Dang, Zhongyuan Zuo , et al. · 2022

De novo truncations in Interferon Regulatory Factor 2 Binding Protein Like ( IRF2BPL ) lead to severe childhood-onset neurodegenerative disorders. To determine how loss of IRF2BPL causes neural dysfunction, we examined its function in Dros…

Corrigendum to “Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9” [Stem Cell Res. 56 (2021) 102554] Open

Ivan Pavlinov, Atena Farkhondeh, Shu Yang, Miao Xu, Yu‐Shan Cheng , et al. · 2021

Peer Review #1 of "cdev: a ground-truth based measure to evaluate RNA-seq normalization performance (v0.2)" Open

Diem-Trang Tran, Matthew Might · 2021

Normalization of RNA-seq data has been an active area of research since the problem was first recognized a decade ago.Despite the active development of new normalizers, their performance measures have been given little attention.To evaluat…

Peer Review #1 of "cdev: a ground-truth based measure to evaluate RNA-seq normalization performance (v0.1)" Open

Diem-Trang Tran, Matthew Might · 2021

Normalization of RNA-seq data has been an active area of research since the problem was first recognized a decade ago.Despite the active development of new normalizers, their performance measures have been given little attention.To evaluat…

Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 Open

Ivan Pavlinov, Atena Farkhondeh, Shu Yang, Miao Xu, Yu‐Shan Cheng , et al. · 2021

NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL61…

Megakaryocytes are a Novel SARS-CoV-2 Infection Target and Risk Factor for Mortality and Multi-Organ Failure Open

Seth D. Fortmann, Michael J. Patton, Blake Frey, Cristiano Pedrozo Vieira, Sivani B. Reddy , et al. · 2021

Discovery of a biomarker for patients at high risk of progression to severe Coronavirus Disease 2019 (COVID-19) is critical for clinical management, particularly in areas of the world where widespread vaccine distribution and herd immunity…

Water-soluble tocopherol derivatives inhibit SARS-CoV-2 RNA-dependent RNA polymerase Open

Hayden T. Pacl, Jennifer L. Tipper, Ritesh Rajesh Sevalkar, Andrew B. Crouse, Camerron M. Crowder , et al. · 2021

Summary The recent emergence of a novel coronavirus, SARS-CoV-2, has led to the global pandemic of the severe disease COVID-19 in humans. While efforts to quickly identify effective antiviral therapies have focused largely on repurposing e…

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