PMC Links for Protein (Select 28372497) - PMC

Select item 57025741.

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

Maja Sukalo, Eva Schäflein, Ina Schanze, David B. Everman, Nima Rezaei, Jesús Argente, Isabel Lorda‐Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker

Mol Genet Genomic Med. 2017 Nov; 5(6): 774–780. Published online 2017 Jul 31. doi: 10.1002/mgg3.319

PMCID:: PMC5702574

Abstract Article PDF–1.2M

Select item 31723112.

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

PLoS One. 2011; 6(9): e24925. Published online 2011 Sep 13. doi: 10.1371/journal.pone.0024925

PMCID:: PMC3172311

Abstract Article PDF–773K

Select item 3785953.

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna Shalev, Tal Eidelitz-Markus, Joseph Kapelushnik, Daniel Cattan, Alexandre Pariente, Michel Tulliez, Aurore Crétien, Pierre-Olivier Schischmanoff, Achille Iolascon, Eithan Fibach, Ariel Koren, Jochen Rössler, Martine Le Merrer, Isaac Yaniv, Rina Zaizov, Edna Ben-Asher, Tsvyia Olender, Doron Lancet, Jacques S. Beckmann, Hannah Tamary

Am J Hum Genet. 2002 Dec; 71(6): 1467–1474. Published online 2002 Nov 14. doi: 10.1086/344781

PMCID:: PMC378595

Abstract Article PDF–1.0M

Select item 379574.

The N-end rule: functions, mysteries, uses.

A Varshavsky

Proc Natl Acad Sci U S A. 1996 Oct 29; 93(22): 12142–12149. doi: 10.1073/pnas.93.22.12142

PMCID:: PMC37957

Summary Page Browse PDF–2.5M

Select item 209015.

The mouse and human genes encoding the recognition component of the N-end rule pathway

Yong Tae Kwon, Yuval Reiss, Victor A. Fried, Avram Hershko, Jeong Kyo Yoon, David K. Gonda, Pitchai Sangan, Neal G. Copeland, Nancy A. Jenkins, Alexander Varshavsky

Proc Natl Acad Sci U S A. 1998 Jul 7; 95(14): 7898–7903. doi: 10.1073/pnas.95.14.7898

PMCID:: PMC20901

Abstract Article PDF–456K

Select item 35355066.

Anorectal atresia and variants at predicted regulatory sites in candidate genes

Tonia C. Carter, Denise M. Kay, Marilyn L. Browne, Aiyi Liu, Paul A. Romitti, Devon Kuehn, Mary R. Conley, Michele Caggana, Charlotte M. Druschel, Lawrence C. Brody, James L. Mills

Ann Hum Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Ann Hum Genet. 2013 Jan; 77(1): 31–46. Published online 2012 Nov 6. doi: 10.1111/j.1469-1809.2012.00734.x

PMCID:: PMC3535506

Abstract Article PDF–110K

Select item 31662857.

Comprehensively Surveying Structure and Function of RING Domains from Drosophila melanogaster

Muying Ying, Xiaotian Huang, Haijun Zhao, Yuehao Wu, Fusheng Wan, Chunhong Huang, Kemin Jie

PLoS One. 2011; 6(9): e23863. Published online 2011 Sep 2. doi: 10.1371/journal.pone.0023863

PMCID:: PMC3166285

Abstract Article PDF–1.7M

Select item 28310048.

Bayesian statistical modelling of human protein interaction network incorporating protein disorder information

Svetlana Bulashevska, Alla Bulashevska, Roland Eils

BMC Bioinformatics. 2010; 11: 46. Published online 2010 Jan 25. doi: 10.1186/1471-2105-11-46

PMCID:: PMC2831004

Abstract Article PDF–437K

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