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Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2307814121Source: DataRank Database

Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision is a research paper published in Proceedings of the National Academy of Sciences (2024). On theSindex it has a DataRank of 0. It has been cited 11 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access11 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (20 grants)Impact (FWCI 2.91)OA: hybridTopics (78)IDs (PubMed, PMC, OpenAlex)Annotations (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (16)

Kamaljot Gill ORCID,Maria Sckaff ORCID,Alisha M. Birk ORCID,Olubankole Aladesuyi Arogundade,Katherine A. Brown ORCID

Live enrichment

PubMed:38621131 PMC:PMC11047104 OpenAlex:https://openalex.org/W4394804036

HHS | NIH | National Institute of Neurological Disorders and Stroke

Grant: K08-NS112330KO8

HHS | NIH | National Institute on Aging

Grant: SC-00080

Alzheimer's Association

Grant: AACSF-17-531484

HHS | NIH | National Institute on Aging

Grant: RF1-AG072052

HHS | NIH | National Eye Institute

Grant: R01-HL130533

HHS | NIH | National Eye Institute

Grant: R01-HL13535801

HHS | NIH | National Eye Institute

Grant: P01-HL146366

HHS | National Institutes of Health

Grant: R03 TR004009

NHLBI NIH HHS

Grant: R01 HL130533

NCATS NIH HHS

Grant: TL1 TR001871

NINDS NIH HHS

Grant: K08 NS112330

NHLBI NIH HHS

Grant: P01 HL146366

NIA NIH HHS

Grant: RF1 AG072052

NINDS NIH HHS

Grant: U19 NS132303

NIA NIH HHS

Grant: R01 AG072052

National Institutes of Health

Grant: 3RF1AG072052-01S1

C9orf72 frontotemporal dementia (FTD) and amyotrophic lateral sclerosis(ALS): using patient cells and CRISPR to reveal therapeutic approaches

National Institutes of Health

Grant: 5P01HL146366-04

Combinatorial Regulation of Gene Networks During Cardiac Development and Disease

National Institutes of Health

Grant: 1R03TR004009-01A1

Using functional readouts from engineering models of innervated skeletal muscle to assess the efficacy of CRISPR-based c9orf72 ALS gene therapies

National Institutes of Health

Grant: 5TL1TR001871-04

NRSA Training Core

National Institutes of Health

Grant: 1R01HL130533-01

Identifying Therapeutic Targets for RNA Splicing-Related Cardiomyopathy

FWCI

2.91

Citation Percentile

0.9%

Citation Trend

2024

2025

2026

hybridLicense: cc-by

journalhttps://doi.org/10.1073/pnas.2307814121

publisherhttps://doi.org/10.1073/pnas.2307814121

publisherhttps://pnas.org/doi/pdf/10.1073/pnas.2307814121

repositoryhttps://pubmed.ncbi.nlm.nih.gov/38621131

repositoryhttps://escholarship.org/uc/item/6q3671s8

Fields of Study

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchMuscle Physiology and Disorders03 medical and health sciences0303 health sciencesHumansC9orf72 ProteinAllelesAmyotrophic Lateral SclerosisFrontotemporal DementiaMotor NeuronsMutationDNA Repeat ExpansionDipeptides

MeSH Terms

C9orf72 ProteinAllelesAmyotrophic Lateral SclerosisDipeptidesHumansMotor NeuronsMutationDNA Repeat ExpansionFrontotemporal Dementia

Keywords

BiologyC9orf72AlleleGeneticsGeneGene silencingMutantGene expressionMolecular biologyTrinucleotide repeat expansionNeurodegenerationALSCrisprFtdALS (rcdc)Stem Cell Research - Induced Pluripotent Stem Cell (rcdc)Stem Cell Research - Induced Pluripotent Stem Cell - Human (rcdc)610Biotechnology (rcdc)Acquired Cognitive Impairment (rcdc)3105 Genetics (for-2020)Rare Diseases (rcdc)Aging (rcdc)Brain Disorders (rcdc)Frontotemporal Dementia (mesh)Dementia (rcdc)Humans32 Biomedical and Clinical Sciences (for-2020)C9orf72 Protein (mesh)DNA Repeat Expansion (mesh)Neurosciences (rcdc)AllelesNeurodegenerative (rcdc)Motor NeuronsHumans (mesh)31 Biological Sciences (for-2020)DNA Repeat ExpansionMutation (mesh)C9orf72 ProteinGenetics (rcdc)Neurological (hrcs-hc)Amyotrophic Lateral Sclerosis2.1 Biological and endogenous factors (hrcs-rac)DipeptidesBiological SciencesStem Cell Research (rcdc)Alzheimer's Disease Related Dementias (ADRD) (rcdc)Amyotrophic Lateral Sclerosis (mesh)Motor Neurons (mesh)Frontotemporal Dementia (FTD) (rcdc)Dipeptides (mesh)Frontotemporal DementiaMutationAlleles (mesh)Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) (rcdc)