PubMed (OMIM) for id: 197131

Year	Number of Results
1952	1
1966	1
1967	1
1969	1
1971	1
1972	1
1976	1
1978	2
1979	2
1981	2
1982	1
1985	1
1986	1
1987	1
1989	2
1990	1
1993	1
1998	1
2001	2
2003	1
2005	2
2008	2
2024	0

1

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM. Elting M, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566. Am J Med Genet A. 2008. PMID: 19006206

2

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Al-Dosari MS, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401. Am J Med Genet A. 2008. PMID: 18553553

3

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597

4

A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons.

Tasaki T, Mulder LC, Iwamatsu A, Lee MJ, Davydov IV, Varshavsky A, Muesing M, Kwon YT. Tasaki T, et al. Mol Cell Biol. 2005 Aug;25(16):7120-36. doi: 10.1128/MCB.25.16.7120-7136.2005. Mol Cell Biol. 2005. PMID: 16055722 Free PMC article.

5

Hypoplasia of the exocrine tissue of the pancreas.

LUMB G, BEAUTYMAN W. LUMB G, et al. J Pathol Bacteriol. 1952 Oct;64(4):679-86. doi: 10.1002/path.1700640402. J Pathol Bacteriol. 1952. PMID: 13000582 No abstract available.

6

Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome.

Vanlieferinghen P, Gallot D, Francannet Ch, Meyer F, Dechelotte P. Vanlieferinghen P, et al. Genet Couns. 2003;14(1):105-7. Genet Couns. 2003. PMID: 12725595

7

Johanson-Blizzard syndrome. a new case with autopsy findings.

Vanlieferinghen PH, Borderon C, Francannet CH, Gembara P, Dechelotte P. Vanlieferinghen PH, et al. Genet Couns. 2001;12(3):245-50. Genet Couns. 2001. PMID: 11693787 Review.

8

Construction and analysis of mouse strains lacking the ubiquitin ligase UBR1 (E3alpha) of the N-end rule pathway.

Kwon YT, Xia Z, Davydov IV, Lecker SH, Varshavsky A. Kwon YT, et al. Mol Cell Biol. 2001 Dec;21(23):8007-21. doi: 10.1128/MCB.21.23.8007-8021.2001. Mol Cell Biol. 2001. PMID: 11689692 Free PMC article.

9

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

Kwon YT, Reiss Y, Fried VA, Hershko A, Yoon JK, Gonda DK, Sangan P, Copeland NG, Jenkins NA, Varshavsky A. Kwon YT, et al. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):7898-903. doi: 10.1073/pnas.95.14.7898. Proc Natl Acad Sci U S A. 1998. PMID: 9653112 Free PMC article.

10

A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.

Nagashima K, Yagi H, Kuroume T. Nagashima K, et al. Clin Genet. 1993 Feb;43(2):98-100. doi: 10.1111/j.1399-0004.1993.tb04458.x. Clin Genet. 1993. PMID: 8448911

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