Author

J. Chmielowiec

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Cell Biology· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Research Focus:chromatin & epigenetic regulation· 1 Research Focus:development & morphogenesis· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:genetic perturbation / CRISPR· 1 Organism:human· 1

Frequent Co-Authors

M. Borowiak· 2 shared A. Bielinsky· 1 shared A. Catic· 1 shared A. E. Pezzi· 1 shared A. G. Heaps· 1 shared A. R. Waksmunski· 1 shared A. Stray-Pedersen· 1 shared C. Steward· 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 papersCell Biology

M. Borowiak

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2 papers

Recent·Most cited

NFIA regulates granule recruitment and exocytosis in the adult pancreas

M. A. Scavuzzo, J. Chmielowiec, J. Teaw, D. Yang, M. C. Hill, A. R. Waksmunski, L. Duraine, J. Camunas-Soler, X. Dai, J. C. King, S. R. Quake, P. E. MacDonald, A. Catic, M. Borowiak

This study identifies NFIA as a regulator of granule recruitment and exocytosis in pancreatic cells, showing its role in insulin and enzyme secretion and linking it to metabolic disorders.

bioRxiv · Dec 24, 2019 · PreprintCell Biology

Human NK cell deficiency as a result of biallelic mutations in MCM10

E. Mace, S. Paust, M. I. Conte, R. M. Baxley, M. Schmit, N. C. Guilz, M. Mukherjee, A. E. Pezzi, J. Chmielowiec, S. Tatineni, I. K. Chinn, Z. C. Akdemir, S. N. Jhangiani, D. M. Muzny, A. Stray-Pedersen, , J. Orange

This study identifies biallelic MCM10 mutations as a cause of human NK cell deficiency, showing impaired NK cell maturation and function in a patient with CMV susceptibility.

bioRxiv · Nov 7, 2019Immunology