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Article ; Online: A systemic sclerosis disease model: can inducible pluripotent stem cells fill an unmet need in defining vascular leak?

Frech, Tracy M / Maguire, Colin / Petrey, Aaron C / Stoddard, Gregory J / Donato, Anthony J

2022 Volume 62, Issue 7, Page(s) e226–e228

MeSH term(s)	Humans ; Pluripotent Stem Cells ; Scleroderma, Systemic/complications ; Scleroderma, Localized ; Cell Differentiation
Language	English
Publishing date	2022-12-28
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keac719
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Zs.MO 497: Show issues

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Article ; Online: Neurite outgrowth deficits caused by rare PLXNB1 mutation in pediatric bipolar disorder.

Yang, Guang / Ullah, H M Arif / Parker, Ethan / Gorsi, Bushra / Libowitz, Mark / Maguire, Colin / King, Jace B / Coon, Hilary / Lopez-Larson, Melissa / Anderson, Jeffrey S / Yandell, Mark / Shcheglovitov, Alex

Molecular psychiatry

2023 Volume 28, Issue 6, Page(s) 2525–2539

Abstract: Pediatric bipolar disorder (PBD) is a severe mood dysregulation condition that affects 0.5-1% of children and teens in the United States. It is associated with recurrent episodes of mania and depression and an increased risk of suicidality. However, the ... ...

Abstract	Pediatric bipolar disorder (PBD) is a severe mood dysregulation condition that affects 0.5-1% of children and teens in the United States. It is associated with recurrent episodes of mania and depression and an increased risk of suicidality. However, the genetics and neuropathology of PBD are largely unknown. Here, we used a combinatorial family-based approach to characterize cellular, molecular, genetic, and network-level deficits associated with PBD. We recruited a PBD patient and three unaffected family members from a family with a history of psychiatric illnesses. Using resting-state functional magnetic resonance imaging (rs-fMRI), we detected altered resting-state functional connectivity in the patient as compared to an unaffected sibling. Using transcriptomic profiling of patient and control induced pluripotent stem cell (iPSC)-derived telencephalic organoids, we found aberrant signaling in the molecular pathways related to neurite outgrowth. We corroborated the presence of neurite outgrowth deficits in patient iPSC-derived cortical neurons and identified a rare homozygous loss-of-function PLXNB1 variant (c.1360C>C; p.Ser454Arg) responsible for the deficits in the patient. Expression of wild-type PLXNB1, but not the variant, rescued neurite outgrowth in patient neurons, and expression of the variant caused the neurite outgrowth deficits in cortical neurons from PlxnB1 knockout mice. These results indicate that dysregulated PLXNB1 signaling may contribute to an increased risk of PBD and other mood dysregulation-related disorders by disrupting neurite outgrowth and functional brain connectivity. Overall, this study established and validated a novel family-based combinatorial approach for studying cellular and molecular deficits in psychiatric disorders and identified dysfunctional PLXNB1 signaling and neurite outgrowth as potential risk factors for PBD.
MeSH term(s)	Mice ; Adolescent ; Animals ; Humans ; Child ; Bipolar Disorder ; Brain/pathology ; Neurons/pathology ; Family ; Neuronal Outgrowth ; Neurites/pathology
Language	English
Publishing date	2023-04-10
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1330655-8
ISSN	1476-5578 ; 1359-4184
ISSN (online)	1476-5578
ISSN	1359-4184
DOI	10.1038/s41380-023-02035-w
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Zs.A 4812: Show issues

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Article: Deletion of Glycogen Synthase Kinase 3 Beta Reprograms NK Cell Metabolism.

Pereira, Marcelo S F / Sorathia, Kinnari / Sezgin, Yasemin / Thakkar, Aarohi / Maguire, Colin / Collins, Patrick L / Mundy-Bosse, Bethany L / Lee, Dean A / Naeimi Kararoudi, Meisam

Cancers

2023 Volume 15, Issue 3

Abstract: Loss of cytotoxicity and defective metabolism are linked to glycogen synthase kinase 3 beta (GSK3β) overexpression in natural killer (NK) cells from patients with acute myeloid leukemia or from healthy donors after expansion ex vivo with IL-15. Drug ... ...

Abstract	Loss of cytotoxicity and defective metabolism are linked to glycogen synthase kinase 3 beta (GSK3β) overexpression in natural killer (NK) cells from patients with acute myeloid leukemia or from healthy donors after expansion ex vivo with IL-15. Drug inhibition of GSK3β in these NK cells improves their maturation and cytotoxic activity, but the mechanisms of GSK3β-mediated dysfunction have not been well studied. Here, we show that expansion of NK cells with feeder cells expressing membrane-bound IL-21 maintained normal GSK3β levels, allowing us to study GSK3β function using CRISPR gene editing. We deleted
Language	English
Publishing date	2023-01-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers15030705
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Article: Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells

Liu, Xuezhong / Lillywhite, Justin / Zhu, Wenliang / Huang, Zaohua / Clark, Anna M / Gosstola, Nicholas / Maguire, Colin T. / Dykxhoorn, Derek / Chen, Zheng-Yi / Yang, Jun

Genes. 2021 May 25, v. 12, no. 6

2021

Abstract: Usher syndrome (USH) is the leading cause of inherited combined hearing and vision loss. As an autosomal recessive trait, it affects 15,000 people in the United States alone and is responsible for ~21% of inherited blindness and 3 to 6% of early ... ...

Abstract	Usher syndrome (USH) is the leading cause of inherited combined hearing and vision loss. As an autosomal recessive trait, it affects 15,000 people in the United States alone and is responsible for ~21% of inherited blindness and 3 to 6% of early childhood deafness. Approximately 2/3 of the patients with Usher syndrome suffer from USH2, of whom 85% have mutations in the USH2A gene. Patients affected by USH2 suffer from congenital bilateral progressive sensorineural hearing loss and retinitis pigmentosa which leads to progressive loss of vision. To study the molecular mechanisms of this disease and develop a gene therapy strategy, we generated human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) obtained from a patient carrying compound heterozygous variants of USH2A c.2299delG and c.1256G>T and the patient’s healthy sibling. The pluripotency and stability were confirmed by pluripotency cell specific marker expression and molecular karyotyping. Subsequent CRISPR/Cas9 genome editing using a homology repair template was used to successfully correct the USH2A c.2299delG mutation back to normal c.2299G in the generated patient iPSCs to create an isogenic pair of lines. Importantly, this manuscript describes the first use of the recombinant Cas9 and synthetic gRNA ribonucleoprotein complex approach to correct the USH2A c.2299delG without additional genetic effects in patient-derived iPSCs, an approach that is amenable for therapeutic genome editing. This work lays a solid foundation for future ex vivo and in vivo gene therapy investigations and these patient’s iPSCs also provide an unlimited resource for disease modeling and mechanistic studies.
Keywords	CRISPR-Cas systems ; blindness ; childhood ; deafness ; gene therapy ; genes ; heterozygosity ; humans ; karyotyping ; mutation ; patients ; people ; retinitis pigmentosa ; ribonucleoproteins ; vision
Language	English
Dates of publication	2021-0525
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12060805
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells.

Liu, Xuezhong / Lillywhite, Justin / Zhu, Wenliang / Huang, Zaohua / Clark, Anna M / Gosstola, Nicholas / Maguire, Colin T / Dykxhoorn, Derek / Chen, Zheng-Yi / Yang, Jun

Genes

2021 Volume 12, Issue 6

Abstract	Usher syndrome (USH) is the leading cause of inherited combined hearing and vision loss. As an autosomal recessive trait, it affects 15,000 people in the United States alone and is responsible for ~21% of inherited blindness and 3 to 6% of early childhood deafness. Approximately 2/3 of the patients with Usher syndrome suffer from USH2, of whom 85% have mutations in the USH2A gene. Patients affected by USH2 suffer from congenital bilateral progressive sensorineural hearing loss and retinitis pigmentosa which leads to progressive loss of vision. To study the molecular mechanisms of this disease and develop a gene therapy strategy, we generated human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) obtained from a patient carrying compound heterozygous variants of USH2A c.2299delG and c.1256G>T and the patient's healthy sibling. The pluripotency and stability were confirmed by pluripotency cell specific marker expression and molecular karyotyping. Subsequent CRISPR/Cas9 genome editing using a homology repair template was used to successfully correct the USH2A c.2299delG mutation back to normal c.2299G in the generated patient iPSCs to create an isogenic pair of lines. Importantly, this manuscript describes the first use of the recombinant Cas9 and synthetic gRNA ribonucleoprotein complex approach to correct the USH2A c.2299delG without additional genetic effects in patient-derived iPSCs, an approach that is amenable for therapeutic genome editing. This work lays a solid foundation for future ex vivo and in vivo gene therapy investigations and these patient's iPSCs also provide an unlimited resource for disease modeling and mechanistic studies.
MeSH term(s)	CRISPR-Cas Systems ; Cells, Cultured ; Extracellular Matrix Proteins/genetics ; Extracellular Matrix Proteins/metabolism ; Female ; Gene Deletion ; Gene Editing/methods ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Primary Cell Culture/methods ; Usher Syndromes/genetics ; Usher Syndromes/metabolism ; Usher Syndromes/pathology
Chemical Substances	Extracellular Matrix Proteins ; USH2A protein, human
Language	English
Publishing date	2021-05-25
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12060805
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Article ; Online: Postseptic Cognitive Impairment and Expression of APOE in Peripheral Blood: The Cognition After SepsiS (CASS) Observational Pilot Study.

Brown, Samuel M / Beesley, Sarah J / Stubben, Chris / Wilson, Emily L / Presson, Angela P / Grissom, Colin / Maguire, Colin / Rondina, Matthew T / Hopkins, Ramona O

Journal of intensive care medicine

2020 Volume 36, Issue 3, Page(s) 262–270

Abstract: Background: Cognitive impairment after sepsis is an important clinical problem. Determinants of postseptic cognitive impairment are not well understood. We thus undertook a systems biology approach to exploring a possible role for apolipoprotein E (APOE) ...

Abstract	Background: Cognitive impairment after sepsis is an important clinical problem. Determinants of postseptic cognitive impairment are not well understood. We thus undertook a systems biology approach to exploring a possible role for apolipoprotein E (APOE) in postseptic cognitive impairment. Design: Prospective, observational cohort. Setting: Intermountain Medical Center, a tertiary referral center in Utah. Patients/participants: Patients with sepsis admitted to study intensive care units. Interventions: None. Methods: We obtained peripheral blood for deep sequencing of RNA and followed up survivors at 6 months with a battery of cognitive instruments. We defined cognitive impairment based on the 6-month Hayling test of executive function. In our primary analysis, we employed weighted network analysis. Secondarily, we compared variation in gene expression between patients with normal versus impaired cognition. Measurements and main results: We enrolled 40 patients, of whom 34 were follow-up eligible and 31 (91%) completed follow-up; 1 patient's RNA sample was degraded-the final analytic cohort was 30 patients. Mean Hayling test score was 5.8 (standard deviation 1.1), which represented 20% with impaired executive function. The network module containing APOE was dominated by low-expression genes, with no association on primary analysis ( Conclusions: In this prospective pilot cohort, executive dysfunction affected 1 in 5 survivors of sepsis. The APOE gene was sparsely transcribed in peripheral leukocytes and not associated with cognitive impairment. Future lines of research are suggested.
MeSH term(s)	Apolipoproteins E/blood ; Cognition ; Cognitive Dysfunction/diagnosis ; Humans ; Pilot Projects ; Prospective Studies ; Sepsis/complications
Chemical Substances	Apolipoproteins E
Language	English
Publishing date	2020-01-09
Publishing country	United States
Document type	Journal Article ; Observational Study
ZDB-ID	632828-3
ISSN	1525-1489 ; 0885-0666
ISSN (online)	1525-1489
ISSN	0885-0666
DOI	10.1177/0885066619897604
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Article ; Online: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.

Nature communications

2022 Volume 13, Issue 1, Page(s) 2769

Abstract: Calcium entering mitochondria potently stimulates ATP synthesis. Increases in calcium preserve energy synthesis in cardiomyopathies caused by mitochondrial dysfunction, and occur due to enhanced activity of the mitochondrial calcium uniporter channel. ... ...

Abstract	Calcium entering mitochondria potently stimulates ATP synthesis. Increases in calcium preserve energy synthesis in cardiomyopathies caused by mitochondrial dysfunction, and occur due to enhanced activity of the mitochondrial calcium uniporter channel. The signaling mechanism that mediates this compensatory increase remains unknown. Here, we find that increases in the uniporter are due to impairment in Complex I of the electron transport chain. In normal physiology, Complex I promotes uniporter degradation via an interaction with the uniporter pore-forming subunit, a process we term Complex I-induced protein turnover. When Complex I dysfunction ensues, contact with the uniporter is inhibited, preventing degradation, and leading to a build-up in functional channels. Preventing uniporter activity leads to early demise in Complex I-deficient animals. Conversely, enhancing uniporter stability rescues survival and function in Complex I deficiency. Taken together, our data identify a fundamental pathway producing compensatory increases in calcium influx during Complex I impairment.
MeSH term(s)	Animals ; Calcium/metabolism ; Calcium Channels/metabolism ; Homeostasis ; Mitochondria/metabolism
Chemical Substances	Calcium Channels ; mitochondrial calcium uniporter ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2022-05-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-022-30236-4
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Article ; Online: Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.

Nature communications

2022 Volume 13, Issue 1, Page(s) 3532

Language	English
Publishing date	2022-06-20
Publishing country	England
Document type	Published Erratum
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-022-31304-5
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Article: A common allele of HLA mediates asymptomatic SARS-CoV-2 infection.

Augusto, Danillo G / Yusufali, Tasneem / Sabatino, Joseph J / Peyser, Noah D / Murdolo, Lawton D / Butcher, Xochitl / Murray, Victoria / Pae, Vivian / Sarvadhavabhatla, Sannidhi / Beltran, Fiona / Gill, Gurjot / Lynch, Kara / Yun, Cassandra / Maguire, Colin / Peluso, Michael J / Hoh, Rebecca / Henrich, Timothy J / Deeks, Steven G / Davidson, Michelle /

Lu, Scott / Goldberg, Sarah A / Kelly, J Daniel / Martin, Jeffrey N / Viera-Green, Cynthia A / Spellman, Stephen R / Langton, David J / Lee, Sulggi / Marcus, Gregory M / Olgin, Jeffrey E / Pletcher, Mark J / Gras, Stephanie / Maiers, Martin / Hollenbach, Jill A

medRxiv : the preprint server for health sciences

2022

Abstract: Despite some inconsistent reporting of symptoms, studies have demonstrated that at least 20% of individuals infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) will remain asymptomatic. Although most global efforts have focused on ... ...

Abstract	Despite some inconsistent reporting of symptoms, studies have demonstrated that at least 20% of individuals infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) will remain asymptomatic. Although most global efforts have focused on understanding factors underlying severe illness in COVID-19 (coronavirus disease of 2019), the examination of asymptomatic infection provides a unique opportunity to consider early disease and immunologic features promoting rapid viral clearance. Owing to its critical role in the immune response, we postulated that variation in the human leukocyte antigen (HLA) loci may underly processes mediating asymptomatic infection. We enrolled 29,947 individuals registered in the National Marrow Donor Program for whom high-resolution HLA genotyping data were available in the UCSF Citizen Science smartphone-based study designed to track COVID-19 symptoms and outcomes. Our discovery cohort (n=1428) was comprised of unvaccinated, self-identified subjects who reported a positive test result for SARS-CoV-2. We tested for association of five HLA loci (HLA-A, -B, -C, -DRB1, -DQB1) with disease course and identified a strong association of HLA-B15:01 with asymptomatic infection, and reproduced this association in two independent cohorts. Suggesting that this genetic association is due to pre-existing T-cell immunity, we show that T cells from pre-pandemic individuals carrying HLA-B15:01 were reactive to the immunodominant SARS-CoV-2 S-derived peptide NQKLIANQF, and 100% of the reactive cells displayed memory phenotype. Finally, we characterize the protein structure of HLA-B15:01-peptide complexes, demonstrating that the NQKLIANQF peptide from SARS-CoV-2, and the highly homologous NQKLIANAF from seasonal coronaviruses OC43-CoV and HKU1-CoV, share similar ability to be stabilized and presented by HLA-B15:01, providing the molecular basis for T-cell cross-reactivity and HLA-B*15:01-mediated pre-existing immunity.
Language	English
Publishing date	2022-10-12
Publishing country	United States
Document type	Preprint
DOI	10.1101/2021.05.13.21257065
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Article ; Online: A common allele of HLA is associated with asymptomatic SARS-CoV-2 infection.

Augusto, Danillo G / Murdolo, Lawton D / Chatzileontiadou, Demetra S M / Sabatino, Joseph J / Yusufali, Tasneem / Peyser, Noah D / Butcher, Xochitl / Kizer, Kerry / Guthrie, Karoline / Murray, Victoria W / Pae, Vivian / Sarvadhavabhatla, Sannidhi / Beltran, Fiona / Gill, Gurjot S / Lynch, Kara L / Yun, Cassandra / Maguire, Colin T / Peluso, Michael J / Hoh, Rebecca /

Nature

2023 Volume 620, Issue 7972, Page(s) 128–136

Abstract: Studies have demonstrated that at least 20% of individuals infected with SARS-CoV-2 remain ... ...

Abstract	Studies have demonstrated that at least 20% of individuals infected with SARS-CoV-2 remain asymptomatic
MeSH term(s)	Humans ; Alleles ; Asymptomatic Infections ; COVID-19/genetics ; COVID-19/immunology ; COVID-19/physiopathology ; COVID-19/virology ; Epitopes, T-Lymphocyte/immunology ; Peptides/immunology ; SARS-CoV-2/immunology ; HLA-B Antigens/immunology ; Cohort Studies ; T-Lymphocytes/immunology ; Immunodominant Epitopes/immunology ; Cross Reactions/immunology ; Spike Glycoprotein, Coronavirus/chemistry ; Spike Glycoprotein, Coronavirus/immunology
Chemical Substances	Epitopes, T-Lymphocyte ; Peptides ; HLA-B Antigens ; Immunodominant Epitopes ; spike protein, SARS-CoV-2 ; Spike Glycoprotein, Coronavirus
Language	English
Publishing date	2023-07-19
Publishing country	England
Document type	Journal Article
ZDB-ID	120714-3
ISSN	1476-4687 ; 0028-0836
ISSN (online)	1476-4687
ISSN	0028-0836
DOI	10.1038/s41586-023-06331-x
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