Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy (Q43487742)

23 November 2017

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy (English)

1 reference

MIB E3 ubiquitin protein ligase 1

23 November 2017

1 reference

left ventricular noncompaction

GOA release 2020-03-11

1 reference

5

1 reference

23 November 2017

9

1 reference

23 November 2017

20

1 reference

Luis Jesús Jiménez Borreguero

23 November 2017

21

1 reference

José Luis De La Pompa Mínguez

23 November 2017

22

1 reference

23 November 2017

Alvaro Gonzalez-Rajal

Alvaro Gonzalez-Rajal

7

0 references

Fernando Martinez

Fernando Martinez

10

0 references

María Sabater-Molina

María Sabater-Molina

13

0 references

Jose L Izquierdo-Garcia

José Luis Izquierdo-García

11

0 references

Donal MacGrogan

Donal MacGrogan

6

0 references

author name string

Guillermo Luxán

1

1 reference

23 November 2017

Jesús C Casanova

2

1 reference

23 November 2017

Beatriz Martínez-Poveda

3

1 reference

23 November 2017

Belén Prados

4

1 reference

23 November 2017

David Dobarro

8

1 reference

23 November 2017

Leticia Fernández-Friera

12

1 reference

23 November 2017

Young-Y Kong

14

1 reference

23 November 2017

Gonzalo Pizarro

15

1 reference

23 November 2017

Borja Ibañez

16

1 reference

23 November 2017

Constancio Medrano

17

1 reference

23 November 2017

Pablo García-Pavía

18

1 reference

23 November 2017

Juan R Gimeno

19

1 reference

23 November 2017

language of work or name

English

0 references

publication date

13 January 2013

1 reference

23 November 2017

1 reference

23 November 2017

19

1 reference

23 November 2017

2

1 reference

23 November 2017

193-201

1 reference

https://scigraph.springernature.com/pub.10.1038/nm.3046

23 November 2017

0 references

cites work

Generalized lacZ expression with the ROSA26 Cre reporter strain

1 reference

12 December 2020

The SWISS-MODEL Repository and associated resources

1 reference

12 December 2020

1 reference

12 December 2020

Mutations in sarcomere protein genes in left ventricular noncompaction

1 reference

12 December 2020

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

1 reference

12 December 2020

An mRNA surveillance mechanism that eliminates transcripts lacking termination codons

1 reference

12 December 2020

Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course

1 reference

12 December 2020

An essential role of Bmp4 in the atrioventricular septation of the mouse heart

1 reference

12 December 2020

Notch-responsive cells initiate the secondary transition in larval zebrafish pancreas

1 reference

12 December 2020

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

12 December 2020

Developmental patterning of the myocardium

1 reference

12 December 2020

I-TASSER server for protein 3D structure prediction

1 reference

12 December 2020

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

12 December 2020

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

12 December 2020

The diaphanous-related formin mDia1 controls serum response factor activity through its effects on actin polymerization

1 reference

12 December 2020

Protein docking using spherical polar Fourier correlations.

1 reference

12 December 2020

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

1 reference

12 December 2020

Accelerating and focusing protein-protein docking correlations using multi-dimensional rotational FFT generating functions

1 reference

12 December 2020

A death-associated protein kinase (DAPK)-interacting protein, DIP-1, is an E3 ubiquitin ligase that promotes tumor necrosis factor-induced apoptosis and regulates the cellular levels of DAPK

1 reference

12 December 2020

Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2

1 reference

12 December 2020

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

1 reference

12 December 2020

Trabeculation and left ventricular hypertrabeculation/noncompaction.

1 reference

12 December 2020

Docking essential dynamics eigenstructures

1 reference

12 December 2020

Left ventricular noncompaction: a new form of heart failure

1 reference

12 December 2020

Notch signaling in cardiac development and disease.

1 reference

12 December 2020

Localized expression of the atrial natriuretic factor gene during cardiac embryogenesis.

1 reference

12 December 2020

Zebrafish Mib and Mib2 are mutual E3 ubiquitin ligases with common and specific delta substrates

1 reference

12 December 2020

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

1 reference

12 December 2020

Coordinating tissue interactions: Notch signaling in cardiac development and disease

1 reference

12 December 2020

Left ventricular noncompaction

1 reference

12 December 2020

HexServer: an FFT-based protein docking server powered by graphics processors.

1 reference

12 December 2020

Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders

1 reference

12 December 2020

Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesis

1 reference

12 December 2020

Notch signaling: cell fate control and signal integration in development

1 reference

12 December 2020

ClusPro: an automated docking and discrimination method for the prediction of protein complexes.

1 reference

12 December 2020

Achieving reliability and high accuracy in automated protein docking: ClusPro, PIPER, SDU, and stability analysis in CAPRI rounds 13-19

1 reference

12 December 2020

Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12

1 reference

12 December 2020

Evaluation of protein docking predictions using Hex 3.1 in CAPRI rounds 1 and 2.

1 reference

12 December 2020

A model recognition approach to the prediction of all-helical membrane protein structure and topology

1 reference

12 December 2020

The canonical Notch signaling pathway: unfolding the activation mechanism

1 reference

12 December 2020

The multifaceted role of Notch in cardiac development and disease

1 reference

12 December 2020

Mind bomb1 is a ubiquitin ligase essential for mouse embryonic development and Notch signaling.

1 reference

12 December 2020

A protocol for computer-based protein structure and function prediction

1 reference

12 December 2020

PIPER: an FFT-based protein docking program with pairwise potentials.

1 reference

12 December 2020

A method and server for predicting damaging missense mutations

1 reference

12 December 2020

I-TASSER: a unified platform for automated protein structure and function prediction

1 reference

12 December 2020

BMP10 is essential for maintaining cardiac growth during murine cardiogenesis

1 reference

12 December 2020

The ankyrin repeat: a diversity of interactions on a common structural framework

1 reference

12 December 2020

Hoxa-2 restricts the chondrogenic domain and inhibits bone formation during development of the branchial area.

1 reference

12 December 2020

Deficient T cell fate specification in mice with an induced inactivation of Notch1.

1 reference

12 December 2020

An obligatory role of mind bomb-1 in notch signaling of mammalian development

1 reference

12 December 2020

Monitoring Notch1 activity in development: evidence for a feedback regulatory loop

1 reference

12 December 2020

Nuclear Ca2+ and CaM kinase IV specify hormonal- and Notch-responsiveness.

1 reference

12 December 2020

An early decrease in Notch activation is required for human TCR-alphabeta lineage differentiation at the expense of TCR-gammadelta T cells.

1 reference

12 December 2020

Fixation, mounting and sealing with nail polish of cell specimens lead to incorrect FRET measurements using acceptor photobleaching

1 reference

12 December 2020

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

1 reference

12 December 2020

Efficient Cre-mediated deletion in cardiac progenitor cells conferred by a 3'UTR-ires-Cre allele of the homeobox gene Nkx2-5.

1 reference

12 December 2020

CHF1/Hey2 plays a pivotal role in left ventricular maturation through suppression of ectopic atrial gene expression

1 reference

12 December 2020

Jagged1-dependent Notch signaling is dispensable for hematopoietic stem cell self-renewal and differentiation.

1 reference

12 December 2020

Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction

1 reference

12 December 2020

Notch signaling in the vasculature

1 reference

12 December 2020

Developmental changes of connexin40 and connexin43 mRNA distribution patterns in the rat heart

1 reference

12 December 2020

Left ventricular hypertrabeculation/noncompaction

1 reference

12 December 2020

Control of Notch-ligand endocytosis by ligand-receptor interaction

1 reference

12 December 2020

Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis

1 reference

12 December 2020

High levels of Notch signaling down-regulate Numb and Numblike

1 reference

12 December 2020

A map of human genome variation from population-scale sequencing

1 reference

12 December 2020

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

1 reference

12 December 2020

Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta

1 reference

12 December 2020

Notch signaling is essential for ventricular chamber development

1 reference

12 December 2020

CD69 limits the severity of cardiomyopathy after autoimmune myocarditis

1 reference

12 December 2020

Ultra-fast FFT protein docking on graphics processors.

1 reference

12 December 2020

Left ventricular noncompaction

1 reference

12 December 2020

Differential Notch signaling in the epicardium is required for cardiac inflow development and coronary vessel morphogenesis

1 reference

12 December 2020

The characterization of zebrafish antimorphic mib alleles reveals that Mib and Mind bomb-2 (Mib2) function redundantly

1 reference

12 December 2020

Left Ventricular Non-Compaction

1 reference

12 December 2020

Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy

1 reference

12 December 2020

Defects in heart and lung development in compound heterozygotes for two different targeted mutations at the N-myc locus.

1 reference

12 December 2020

Isolated noncompaction of the myocardium in adults

1 reference

12 December 2020

Protein Modeling by E-mail

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNM.3046

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NM.3046

1 reference

23 November 2017

1 reference