Author

Nobuo Kohara

Kobe City Medical Center General HospitalORCID 0000-0001-7062-6306Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:host-pathogen & immune response· 1 Assay:long-read sequencing· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Michi KawamotoiD· 2 shared Akihiro HashiguchiiD· 1 shared Alexander Hoellein· 1 shared Alexej Knaus· 1 shared Atsushi FujitaiD· 1 shared Britta Hoechsmann· 1 shared Fumiaki TanakaiD· 1 shared Gen SobueiD· 1 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Michi KawamotoORCID

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2 papers

Recent·Most cited

GeneticsNature GeneticsPeer-reviewedJul 22, 2019

Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita…·Gen Sobue

The paper identifies a GGC repeat expansion in the NOTCH2NLC gene using long-read sequencing, linking it to neuronal intranuclear inclusion disease in both familial and sporadic cases.

499 citationstop 1%

humanlong-read sequencing

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ImmunologybioRxivPreprintMay 13, 2019

Complement- and inflammasome-mediated autoinflammation-paroxysmal nocturnal hemoglobinuria

Britta Hoechsmann, Yoshiko Murakami, Makiko Osato…·Taroh Kinoshita

This study identifies AIF-PNH as a disease caused by germline and somatic mutations in PIGT, leading to complement activation and inflammasome-mediated IL-1β secretion, which is treatable with eculizumab.

DOI 10.1101/635573

humanproteomics

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