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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29.
Am J Hum Genet. 2018.
PMID: 29606302
Free PMC article.
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome.
Vishwanath N, Monis WJ, Hoffmann GA, Ramachandran B, DiGiacomo V, Wong JY, Smith ML, Layne MD.
Vishwanath N, et al. Among authors: monis wj.
J Biol Chem. 2020 Jul 10;295(28):9725-9735. doi: 10.1074/jbc.RA120.013902. Epub 2020 Jun 1.
J Biol Chem. 2020.
PMID: 32482891
Free PMC article.
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Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.
Hartwig C, Monis WJ, Chen X, Dickman DK, Pazour GJ, Faundez V.
Hartwig C, et al. Among authors: monis wj.
Dev Neurobiol. 2018 Mar;78(3):311-330. doi: 10.1002/dneu.22542. Epub 2017 Oct 13.
Dev Neurobiol. 2018.
PMID: 28986965
Free PMC article.
Review.
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BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia.
Monis WJ, Faundez V, Pazour GJ.
Monis WJ, et al.
J Cell Biol. 2017 Jul 3;216(7):2131-2150. doi: 10.1083/jcb.201611138. Epub 2017 Jun 2.
J Cell Biol. 2017.
PMID: 28576874
Free PMC article.
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Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.
Pearring JN, San Agustin JT, Lobanova ES, Gabriel CJ, Lieu EC, Monis WJ, Stuck MW, Strittmatter L, Jaber SM, Arshavsky VY, Pazour GJ.
Pearring JN, et al. Among authors: monis wj.
PLoS Genet. 2017 Apr 14;13(4):e1006740. doi: 10.1371/journal.pgen.1006740. eCollection 2017 Apr.
PLoS Genet. 2017.
PMID: 28410364
Free PMC article.
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