PMC Links for Nucleotide (Select 1519312497) - 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 67745666.

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

Gavin R. Oliver, Xiaojia Tang, Laura E. Schultz-Rogers, Noemi Vidal-Folch, W. Garrett Jenkinson, Tanya L. Schwab, Krutika Gaonkar, Margot A. Cousin, Asha Nair, Shubham Basu, Pritha Chanana, Devin Oglesbee, Eric W. Klee

PLoS One. 2019; 14(10): e0223337. Published online 2019 Oct 2. doi: 10.1371/journal.pone.0223337

PMCID:: PMC6774566

Abstract Article PDF–2.0M

Select item 35341067.

Inhibitory Effect of Tumor Suppressor p53 on Proinflammatory Chemokine Expression in Ovarian Cancer Cells by Reducing Proteasomal Degradation of IκB

Deok-Soo Son, Syder M. Kabir, Yuan-Lin Dong, Eunsook Lee, Samuel E. Adunyah

PLoS One. 2012; 7(12): e51116. Published online 2012 Dec 31. doi: 10.1371/journal.pone.0051116

PMCID:: PMC3534106

Abstract Article PDF–2.2M

Select item 32195898.

Microarray analysis of peripheral blood lymphocytes from ALS patients and the SAFE detection of the KEGG ALS pathway

Jean-Luc C Mougeot, Zhen Li, Andrea E Price, Fred A Wright, Benjamin R Brooks

BMC Med Genomics. 2011; 4: 74. Published online 2011 Oct 25. doi: 10.1186/1755-8794-4-74

PMCID:: PMC3219589

Abstract Article PDF–960K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity