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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

Journal of Clinical Investigation(2022)10.1172/jci156864Source: DataRank Database

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant is a research paper published in Journal of Clinical Investigation (2022). On theSindex it has a DataRank of 0. It has been cited 34 times.

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Open Access34 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (9 grants)OA: goldTopics (62)Linked Datasets (6)DataCite Reuse (6)IDs (PubMed, PMC)Annotations (2)

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Findable (2/2)

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Accessible (1/2)

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Interoperable (2/2)

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Authors (11)

Wee-Teik Keng,Zhenkang Chen ORCID,Adwait Amod Sathe ORCID,Chao Xing ORCID,Pavithira Devi Kailasam

Live enrichment

PubMed:36282599 PMC:PMC9711873

NIH-NATIONAL INSTITUTE OF DDK DISEASES

Grant: 5RO1DK105448

NIEHS NIH HHS

Grant: DP2 ES030449

NIDDK NIH HHS

Grant: F31 DK122676

NIAMS NIH HHS

Grant: R01 AR073217

NIDDK NIH HHS

Grant: R01 DK105448

National Institutes of Health

Grant: 1F31DK122676-01A1

Examining Transsulfuration in Mitochondrial Hepatopathy in vivo

National Institutes of Health

Grant: 5R01AR073217-03

Deciphering the role of amino acid transporters in mitochondrial myopathy

National Institutes of Health

Grant: 5R01DK105448-07

Genetic and Metabolic Basis of Familial Lipodystrophies

National Institutes of Health

Grant: 1DP2ES030449-01

Engineering faithful animal models of mitochondrial disease

goldLicense: CC BY

publisherhttps://www.jci.org/articles/view/156864/files/pdf

Unpaywallhttps://doi.org/10.1172/jci156864

Europe_PMChttps://europepmc.org/articles/PMC9711873

Europe_PMChttps://europepmc.org/articles/PMC9711873?pdf=render

https://dx.doi.org/10.60692/n9jbc-yrq15

Fields of Study

0301 basic medicine03 medical and health sciencesHumansYoung AdultAdultProgeriaProteomicsLipodystrophyHomozygoteExomeMutationMembrane ProteinsMitochondrial ProteinsMitochondrial Precursor Protein Import Complex Proteins

MeSH Terms

HumansProgeriaLipodystrophyMembrane ProteinsMitochondrial ProteinsProteomicsHomozygoteMutationAdultYoung AdultExomeMitochondrial Precursor Protein Import Complex Proteins

Keywords

MitochondriaGeneticsGenetic diseasesendocrinologyAdultProteomicsExome sequencingLipodystrophyStructure and Function of the Nuclear Pore ComplexGeneProbandHelicaseMitochondrial ProteinsYoung AdultMitochondrial Dynamics and Reactive Oxygen Species RegulationProgeriaBiochemistry, Genetics and Molecular BiologyMitochondrial Precursor Protein Import Complex ProteinsHumansExomeMissense mutationMitochondrionMolecular BiologyBiologyWerner syndromeConcise CommunicationHomozygoteRMembrane ProteinsLife SciencesFOS: Biological sciencesRegulation of RNA Processing and FunctionMutationMedicineRNAProgeria Syndrome

Additional file 1 of MyD88 dimerization inhibitor ST2825 targets the aggressiveness of synovial fibroblasts in rheumatoid arthritis patients

10.6084/m9.figshare.24196732.v1figshare

Additional file 1 of MyD88 dimerization inhibitor ST2825 targets the aggressiveness of synovial fibroblasts in rheumatoid arthritis patients

10.6084/m9.figshare.24196732figshare

Additional file 2 of MyD88 dimerization inhibitor ST2825 targets the aggressiveness of synovial fibroblasts in rheumatoid arthritis patients

10.6084/m9.figshare.24196738figshare

Additional file 3 of MyD88 dimerization inhibitor ST2825 targets the aggressiveness of synovial fibroblasts in rheumatoid arthritis patients

10.6084/m9.figshare.24196741.v1figshare

Additional file 2 of MyD88 dimerization inhibitor ST2825 targets the aggressiveness of synovial fibroblasts in rheumatoid arthritis patients

10.6084/m9.figshare.24196738.v1figshare

Additional file 3 of MyD88 dimerization inhibitor ST2825 targets the aggressiveness of synovial fibroblasts in rheumatoid arthritis patients

10.6084/m9.figshare.24196741figshare