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Article ; Online: Rare disease informs mechanism and possible treatment of statin-associated myopathy.

Harel, Tamar

Proceedings of the National Academy of Sciences of the United States of America

2023 Volume 120, Issue 10, Page(s) e2300988120

MeSH term(s)	Humans ; Rare Diseases ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects
Chemical Substances	Hydroxymethylglutaryl-CoA Reductase Inhibitors
Language	English
Publishing date	2023-02-27
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.2300988120
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Zs.A 1148: Show issues

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Article ; Online: Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data.

Zlotogora, Joël / Harel, Tamar / Meiner, Vardiella

European journal of medical genetics

2023 Volume 66, Issue 6, Page(s) 104765

Abstract: Ample data on recessive disorders among Ashkenazi Jews has been gathered and published through the years. The opportunity to integrate molecular records analyzed in actual affected individuals with data derived from population-documented frequencies ... ...

Abstract	Ample data on recessive disorders among Ashkenazi Jews has been gathered and published through the years. The opportunity to integrate molecular records analyzed in actual affected individuals with data derived from population-documented frequencies enables to compare these figures. We reviewed assumed pathogenic variants reported among patients in the Israeli medical genetic database (IMGD) with a carrier frequency of 1% or more among Ashkenazi Jews in gnomAD. Among the 60 assumed pathogenic variants recorded in IMGD, 15 (25%) had either a disease incidence considerably lower than expected by the calculated carrier frequency (12 variants), or the variant was not characterized in Ashkenazi Jewish patients (three variants). Possible explanations for the rarity or absence of affected individuals despite high carrier frequency include embryonic lethality, clinical variability, and incomplete and age-related penetrance, in addition to the existence of additional assumed pathogenic variants on the founder haplotype, hypomorphic variants or digenic inheritance. The discrepancy in actual versus expected number of patients calls for caution upon designing and choosing targeted genes and recessive mutations for carrier screening.
MeSH term(s)	Humans ; Jews/genetics ; Mutation ; Gene Frequency ; Homozygote ; Penetrance
Language	English
Publishing date	2023-04-06
Publishing country	Netherlands
Document type	Review ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2023.104765
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Article: New onset or relapsing neuromyelitis optica temporally associated with SARS-CoV-2 infection and COVID-19 vaccination: a systematic review.

Harel, Tamar / Gorman, Emily F / Wallin, Mitchell T

Frontiers in neurology

2023 Volume 14, Page(s) 1099758

Abstract: Background: Neuromyelitis optica spectrum disorder (NMOSD) is a rare chronic neuroinflammatory autoimmune condition. Since the onset of the COVID-19 pandemic, there have been reports of NMOSD clinical manifestations following both SARS-CoV-2 infections ... ...

Abstract	Background: Neuromyelitis optica spectrum disorder (NMOSD) is a rare chronic neuroinflammatory autoimmune condition. Since the onset of the COVID-19 pandemic, there have been reports of NMOSD clinical manifestations following both SARS-CoV-2 infections and COVID-19 vaccinations. Objective: This study aims to systematically review the published literature of NMOSD clinical manifestations associated with SARS-CoV-2 infections and COVID-19 vaccinations. Methods: A Boolean search of the medical literature was conducted between December 1, 2019 to September 1, 2022, utilizing Medline, Cochrane Library, Embase, Trip Database, Clinicaltrials.gov, Scopus, and Web of Science databases. Articles were collated and managed on Covidence Results: A total of 702 articles were imported for screening. After removing 352 duplicates and 313 articles based on exclusion criteria, 34 articles were analyzed. A total of 41 cases were selected, including 15 patients that developed new onset NMOSD following a SARS-CoV-2 infection, 21 patients that developed Conclusion: This systematic review suggests that there is an association between NMOSD and SARS-CoV-2 infections and COVID-19 vaccinations. This association requires further study using quantitative epidemiological assessments in a large population to better quantify the risk.
Language	English
Publishing date	2023-06-22
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2023.1099758
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Article ; Online: Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.

Salah, Somaya / Jaber, Hiba / Frumkin, Ayala / Harel, Tamar

American journal of medical genetics. Part A

2023 Volume 191, Issue 10, Page(s) 2623–2630

Abstract: Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.2 region are mediated by nonallelic ... ...

Abstract	Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.2 region are mediated by nonallelic homologous recombination between pairs of low copy repeats (LCRs), from amongst eight LCRs designated A-H. Heterozygous distal type II deletions (LCR-E to LCR-F) have incomplete penetrance and variable expressivity, and can lead to neurodevelopmental issues, minor craniofacial anomalies, and congenital abnormalities. We report siblings with global developmental delay, hypotonia, minor craniofacial anomalies, ocular abnormalities, and minor skeletal issues, in whom chromosomal microarray identified a homozygous distal type II deletion. The deletion was brought to homozygosity as a result of a consanguineous marriage between two heterozygous carriers of the deletion. The phenotype of the children was strikingly more severe and complex than that of the parents. This report suggests that the distal type II deletion harbors a dosage-sensitive gene or regulatory element, which leads to a more severe phenotype when deleted on both chromosomes.
MeSH term(s)	Child ; Humans ; Chromosome Deletion ; Microarray Analysis ; DNA Copy Number Variations/genetics ; Craniofacial Abnormalities ; Phenotype
Language	English
Publishing date	2023-06-27
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63326
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Zs.A 1376/A: Show issues

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Article: Team Interdependence as a Substitute for Empowering Leadership Contribution to Team Meaningfulness and Performance.

Lisak, Alon / Harush, Raveh / Icekson, Tamar / Harel, Sharon

Frontiers in psychology

2022 Volume 13, Page(s) 637822

Abstract: This study uses a relational work design perspective to explore substitutes for leadership behaviors that promote team meaningfulness and performance. We propose that team task interdependence, a structural feature facilitating interaction among team ... ...

Abstract	This study uses a relational work design perspective to explore substitutes for leadership behaviors that promote team meaningfulness and performance. We propose that team task interdependence, a structural feature facilitating interaction among team members, can be a substitute for the contributions of empowering leadership. Data were collected from 47 R&D and technology implementation teams across three organizations in a cross-sectional field study. The results revealed that high task interdependence attenuated the contributions of empowering leadership concerning team meaningfulness and, indirectly, to team performance. These findings highlight that the importance of leaders as generators of team meaningfulness is contingent on team relational work design.
Language	English
Publishing date	2022-02-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2563826-9
ISSN	1664-1078
ISSN	1664-1078
DOI	10.3389/fpsyg.2022.637822
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Article ; Online: CRISPR/Cas9-induced gene conversion between

Yanovsky-Dagan, Shira / Frumkin, Ayala / Lupski, James R / Harel, Tamar

HGG advances

2022 Volume 3, Issue 2, Page(s) 100092

Abstract: Paralogs and pseudogenes are abundant within the human genome, and can mediate non-allelic homologous recombination (NAHR) or gene conversion events. ... ...

Abstract	Paralogs and pseudogenes are abundant within the human genome, and can mediate non-allelic homologous recombination (NAHR) or gene conversion events. The
Language	English
Publishing date	2022-01-25
Publishing country	United States
Document type	Journal Article
ISSN	2666-2477
ISSN (online)	2666-2477
DOI	10.1016/j.xhgg.2022.100092
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Article ; Online: Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease.

Datta, Arindam / Sommers, Joshua A / Jhujh, Satpal S / Harel, Tamar / Stewart, Grant S / Brosh, Robert M

Ageing research reviews

2023 Volume 86, Page(s) 101887

Abstract: Characterizing the molecular deficiencies underlying human aging has been a formidable challenge as it is clear that a complex myriad of factors including genetic mutations, environmental influences, and lifestyle choices influence the deterioration ... ...

Abstract	Characterizing the molecular deficiencies underlying human aging has been a formidable challenge as it is clear that a complex myriad of factors including genetic mutations, environmental influences, and lifestyle choices influence the deterioration responsible for human pathologies. In addition, the common denominators of human aging, exemplified by the newly updated hallmarks of aging (López-Otín et al., 2023), suggest multiple avenues and layers of crosstalk between pathways important for genome and cellular homeostasis, both of which are major determinants of both good health and lifespan. In this regard, we postulate that hereditary disorders characterized by chromosomal instability offer a unique window of insight into aging and age-related disease processes. Recently, we discovered a new RECQ helicase disorder, designated RECON syndrome attributed to bi-allelic mutations in the RECQL1 gene (Abu-Libdeh et al., 2022). Cells deficient in RECQL1 exhibit genomic instability and a compromised response to replication stress, providing further evidence for the significance of genome homeostasis to suppress disease phenotypes. Here we provide a perspective on the pathology of RECON syndrome to inform the reader as to how molecular defects in the RECQL1 gene contribute to underlying deficiencies in nucleic acid metabolism often seen in certain aging or age-related diseases.
MeSH term(s)	Humans ; RecQ Helicases/genetics ; RecQ Helicases/metabolism ; Syndrome ; Aging/genetics ; Mutation ; Homeostasis/genetics
Chemical Substances	RecQ Helicases (EC 3.6.4.12)
Language	English
Publishing date	2023-02-19
Publishing country	England
Document type	Journal Article ; Review ; Research Support, N.I.H., Intramural
ZDB-ID	2075672-0
ISSN	1872-9649 ; 1568-1637
ISSN (online)	1872-9649
ISSN	1568-1637
DOI	10.1016/j.arr.2023.101887
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Zs.A 5579: Show issues

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Article ; Online: Relationship between Occupational Identity Post-Stroke and Outcomes of a Self-Management Participation-Focused Intervention: A Preliminary Investigation.

Harel-Katz, Hagit / Adar, Tamar / Milman, Uzi / Carmeli, Eli

Occupational therapy in health care

2021 Volume 35, Issue 2, Page(s) 198–216

Abstract: Self-management programs are used to assist stroke survivors to manage their condition and participation. This study was designed to examine correlations between occupational identity and outcomes of participation-focused self-management program using ... ...

Abstract	Self-management programs are used to assist stroke survivors to manage their condition and participation. This study was designed to examine correlations between occupational identity and outcomes of participation-focused self-management program using the Occupational Performance History Interview for the occupational identity and participation and self-efficacy as outcome measures. Spearman's rho correlations were calculated between occupational Identity and the program's outcomes. Results showed moderate significant positive correlations with self-efficacy for self-management and self-efficacy for participation scales at baseline; few were found at post-intervention and follow-up. Non-significant correlations were found between occupational identity and the change in outcome measures from baseline to post-intervention and to follow-up. Findings suggest occupational identity is strongly related to self-efficacy after stroke, and less related to intervention outcomes. However, other factors may possibly affect the effectiveness of self-management programs for a stroke population. Exploration of these factors might help develop programs better tailored to each stroke survivor.
Language	English
Publishing date	2021-04-01
Publishing country	England
Document type	Journal Article
ZDB-ID	639184-9
ISSN	1541-3098 ; 0738-0577
ISSN (online)	1541-3098
ISSN	0738-0577
DOI	10.1080/07380577.2021.1905197
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Article ; Online: A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.

Aguila, Adriana / Salah, Somaya / Kulasekaran, Gopinath / Shweiki, Moatasem / Shaul-Lotan, Nava / Mor-Shaked, Hagar / Daana, Muhannad / Harel, Tamar / McPherson, Peter S

The Journal of biological chemistry

2024 Volume 300, Issue 4, Page(s) 107124

Abstract: Rab35 (Ras-associated binding protein) is a small GTPase that regulates endosomal membrane trafficking and functions in cell polarity, cytokinesis, and growth factor signaling. Altered Rab35 function contributes to progression of glioblastoma, defects in ...

Abstract	Rab35 (Ras-associated binding protein) is a small GTPase that regulates endosomal membrane trafficking and functions in cell polarity, cytokinesis, and growth factor signaling. Altered Rab35 function contributes to progression of glioblastoma, defects in primary cilia formation, and altered cytokinesis. Here, we report a pediatric patient with global developmental delay, hydrocephalus, a Dandy-Walker malformation, axial hypotonia with peripheral hypertonia, visual problems, and conductive hearing impairment. Exome sequencing identified a homozygous missense variant in the GTPase fold of RAB35 (c.80G>A; p.R27H) as the most likely candidate. Functional analysis of the R27H-Rab35 variant protein revealed enhanced interaction with its guanine-nucleotide exchange factor, DENND1A and decreased interaction with a known effector, MICAL1, indicating that the protein is in an inactive conformation. Cellular expression of the variant drives the activation of Arf6, a small GTPase under negative regulatory control of Rab35. Importantly, variant expression leads to delayed cytokinesis and altered length, number, and Arl13b composition of primary cilia, known factors in neurodevelopmental disease. Our findings provide evidence of altered Rab35 function as a causative factor of a neurodevelopmental disorder.
MeSH term(s)	Humans ; Mutation, Missense ; rab GTP-Binding Proteins/genetics ; rab GTP-Binding Proteins/metabolism ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/pathology ; ADP-Ribosylation Factor 6 ; Loss of Function Mutation ; Cytokinesis/genetics ; Male ; ADP-Ribosylation Factors/genetics ; ADP-Ribosylation Factors/metabolism ; Cilia/metabolism ; Cilia/genetics ; Cilia/pathology ; Guanine Nucleotide Exchange Factors/genetics ; Guanine Nucleotide Exchange Factors/metabolism ; Female
Chemical Substances	rab GTP-Binding Proteins (EC 3.6.5.2) ; RAB35 protein, human (EC 3.6.1.-) ; ADP-Ribosylation Factor 6 ; ARF6 protein, human (EC 3.6.5.2) ; ADP-Ribosylation Factors (EC 3.6.5.2) ; Guanine Nucleotide Exchange Factors
Language	English
Publishing date	2024-03-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Case Reports
ZDB-ID	2997-x
ISSN	1083-351X ; 0021-9258
ISSN (online)	1083-351X
ISSN	0021-9258
DOI	10.1016/j.jbc.2024.107124
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Article ; Online: Plasma Biomarker Identification and Quantification by Microparticle Proteomics.

Harel, Michal / Geiger, Tamar

Methods in molecular biology (Clifton, N.J.)

2017 Volume 1619, Page(s) 477–486

Abstract: Plasma biomarker discovery necessitates a method for deep proteomic profiling, as well as for highly accurate quantification of the proteins in the sample. Furthermore, to obtain strong candidates for potential biomarkers, the method should be high ... ...

Abstract	Plasma biomarker discovery necessitates a method for deep proteomic profiling, as well as for highly accurate quantification of the proteins in the sample. Furthermore, to obtain strong candidates for potential biomarkers, the method should be high throughput to enable a large scale analysis. Here we describe in detail PROMIS-Quan (PROteomics of MIcroparticles using Super-SILAC Quantification), a method for a simple and robust fractionation of the plasma samples by extraction of plasma microparticles, followed by SILAC-based relative and absolute quantification.
MeSH term(s)	Biomarkers ; Blood Proteins ; Computational Biology/methods ; Extracellular Vesicles/metabolism ; Extracellular Vesicles/ultrastructure ; Humans ; Mass Spectrometry ; Proteome ; Proteomics/methods
Chemical Substances	Biomarkers ; Blood Proteins ; Proteome
Language	English
Publishing date	2017
Publishing country	United States
Document type	Journal Article
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-4939-7057-5_33
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