Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) (Q28283899)

From Wikidata

Revision as of 18:59, 9 June 2024 by Mahir256 (talk | contribs) (‎Removed claim: Property:P10863: 10.1038/ng1681, batch #231758)

(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)	scientific article

Statements

scholarly article

0 references

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

0 references

Johanson-Blizzard syndrome

1 reference

based on heuristic

inferred from title

corrigendum / erratum

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

0 references

27

0 references

5

0 references

Christian T Thiel

object named as

Christian Thiel

22

0 references

object named as

Manfred Rauh

20

0 references

Vera L Gil-da-Silva-Lopes

object named as

Vera L Gil-da-Silva-Lopes

18

0 references

object named as

Markus M Lerch

3

0 references

23

object named as

Arif B Ekici

0 references

2

object named as

Julia Mayerle

0 references

1

object named as

Martin Zenker

0 references

Andreas Tagariello

4

object named as

Andreas Tagariello

0 references

Georg Hülskamp

8

object named as

Georg Hülskamp

0 references

9

object named as

Celina Guzman

0 references

11

object named as

Frits A Beemer

0 references

12

object named as

Ben Hamel

0 references

Philippe Vanlieferinghen

13

object named as

Philippe Vanlieferinghen

0 references

Ruth Gershoni-Baruch

14

object named as

Ruth Gershoni-Baruch

0 references

Miroslav Dumić

16

object named as

Miroslav Dumic

0 references

17

object named as

Ron Auslender

0 references

Simone Steinlicht

19

object named as

Simone Steinlicht

0 references

Stavit A Shalev

21

object named as

Stavit A Shalev

0 references

Andreas Winterpacht

24

object named as

Andreas Winterpacht

0 references

25

object named as

Yong Tae Kwon

0 references

author name string

Peter R Durie

6

0 references

Matthias Beier

7

0 references

Helga Rehder

10

0 references

Marta W Vieira

15

0 references

Alexander Varshavsky

26

0 references

language of work or name

0 references

publication date

December 2005

0 references

Nature Genetics

0 references

37

0 references

12

0 references

1345-50

0 references

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

An essential role of N-terminal arginylation in cardiovascular development

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

The N-end rule: functions, mysteries, uses

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

In vivo half-life of a protein is a function of its amino-terminal residue

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Female Lethality and Apoptosis of Spermatocytes in Mice Lacking the UBR2 Ubiquitin Ligase of the N-End Rule Pathway

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

The Johanson-Blizzard syndrome: case report and autopsy findings

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

The Johanson-Blizzard syndrome: a second report of full autopsy findings

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Johanson-Blizzard syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Anorectal anomalies associated with or as part of other anomalies

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Peptides accelerate their uptake by activating a ubiquitin-dependent proteolytic pathway

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Back to the future with ubiquitin

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Basic Medical Research Award. The ubiquitin system

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

The ubiquitin system: pathogenesis of human diseases and drug targeting

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Trypsin activity is not involved in premature, intrapancreatic trypsinogen activation

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Up-regulation, nuclear import, and tumor growth stimulation of the adhesion protein p120 in pancreatic cancer

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Presence of cathepsin B in the human pancreatic secretory pathway and its role in trypsinogen activation during hereditary pancreatitis

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

The E2-E3 interaction in the N-end rule pathway: the RING-H2 finger of E3 is required for the synthesis of multiubiquitin chain

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

Structural analysis of the adaptor protein ClpS in complex with the N-terminal domain of ClpA

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

21 January 2018

The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature.

1 reference

https://api.crossref.org/works/10.1038%2FNG1681

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

0 references

PubMed publication ID

0 references

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28283899&oldid=2175210395"