|
🐜
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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.
19 auth.
P. Blackburn,
Zhi Xu,
K. Tumelty,
R. Zhao,
William J Monis,
Kimberly G Harris,
J. Gass,
M. Cousin,
N. Boczek,
M. Mitkov,
...
M. Cappel,
C. Francomano,
J. Parisi,
E. Klee,
E. Faqeih,
F. Alkuraya,
M. Layne,
N. McDonnell,
P. Atwal
|
6 |
2018 |
6
🐜
|
|
🦁
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BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia
William J Monis,
V. Faundez,
G. Pazour
|
5 |
2017 |
5
🦁
|
|
🐜
|
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration
11 auth.
J. Pearring,
J. S. San Agustin,
E. Lobanova,
Christopher J Gabriel,
Eric C. Lieu,
William J Monis,
...
Michael W. Stuck,
Lara Strittmatter,
Samer M. Jaber,
V. Arshavsky,
G. Pazour
|
4 |
2017 |
4
🐜
|
|
🐬
|
Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC‐1 and BORC complexes
Cortnie L. Hartwig,
William J Monis,
Xun Chen,
Dion K. Dickman,
G. Pazour,
V. Faundez
|
4 |
2018 |
4
🐬
|
|
🐜
|
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers–Danlos syndrome
8 auth.
Neya Vishwanath,
William J Monis,
G. A. Hoffmann,
B. Ramachandran,
Vincent DiGiacomo,
J. Wong,
...
Michael L. Smith,
M. Layne
|
3 |
2020 |
3
🐜
|
|
🦁
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Membrane Proteins Take Different Trafficking Pathways to the Primary Cilium
William J Monis
|
0 |
2017 |
0
🦁
|
