(Q42871027)

9 November 2017

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes (English)

1 reference

9 November 2017

12

1 reference

9 November 2017

21

1 reference

9 November 2017

Irina Stefanova

6

0 references

André Reis

object named as

André Reis

25

0 references

Martin Zenker

23

object named as

Martin Zenker

1 reference

9 November 2017

28

Kerstin Kutsche

1 reference

9 November 2017

16

Anita Rauch

1 reference

9 November 2017

Sabine Endele

1

1 reference

9 November 2017

Georg Rosenberger

2

1 reference

9 November 2017

Kirsten Geider

3

1 reference

9 November 2017

Bernt Popp

4

1 reference

9 November 2017

Ceyhun Tamer

5

1 reference

9 November 2017

Mathieu Milh

7

1 reference

9 November 2017

Fanny Kortüm

8

1 reference

9 November 2017

Angela Fritsch

9

1 reference

9 November 2017

Friederike K Pientka

10

1 reference

9 November 2017

Yorck Hellenbroich

11

1 reference

9 November 2017

Jürgen Kohlhase

13

1 reference

9 November 2017

Ute Moog

14

1 reference

9 November 2017

Gudrun Rappold

15

1 reference

9 November 2017

Hans-Hilger Ropers

17

1 reference

9 November 2017

Sarah von Spiczak

18

1 reference

9 November 2017

Holger Tönnies

19

1 reference

9 November 2017

Nathalie Villeneuve

20

1 reference

9 November 2017

Bernhard Zabel

22

1 reference

9 November 2017

Bodo Laube

24

1 reference

9 November 2017

Dagmar Wieczorek

26

1 reference

9 November 2017

Lionel Van Maldergem

27

1 reference

9 November 2017

language of work or name

English

0 references

publication date

3 October 2010

1 reference

9 November 2017

1 reference

9 November 2017

42

1 reference

9 November 2017

1021-1026

1 reference

9 November 2017

11

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.677

9 November 2017

0 references

cites work

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

1 reference

12 December 2020

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

1 reference

12 December 2020

A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms

1 reference

12 December 2020

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

12 December 2020

SNAP: predict effect of non-synonymous polymorphisms on function

1 reference

12 December 2020

NMDA receptor subunits: diversity, development and disease

1 reference

12 December 2020

Adjacent asparagines in the NR2-subunit of the NMDA receptor channel control the voltage-dependent block by extracellular Mg2+.

1 reference

12 December 2020

Human non-synonymous SNPs: server and survey

1 reference

12 December 2020

Regulation of NMDA receptor subunit expression and its implications for LTD, LTP, and metaplasticity

1 reference

12 December 2020

Formation of NR1/NR2 and NR1/NR3 heterodimers constitutes the initial step in N-methyl-D-aspartate receptor assembly

1 reference

12 December 2020

Improved splice site detection in Genie

1 reference

12 December 2020

Molecular determinants of ligand discrimination in the glutamate-binding pocket of the NMDA receptor

1 reference

12 December 2020

Haploinsufficiency of NSD1 causes Sotos syndrome

1 reference

12 December 2020

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

1 reference

12 December 2020

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

1 reference

12 December 2020

Glutamate receptors at atomic resolution

1 reference

12 December 2020

Genetic enhancement of learning and memory in mice

1 reference

12 December 2020

Molecular determinants of agonist discrimination by NMDA receptor subunits: analysis of the glutamate binding site on the NR2B subunit

1 reference

12 December 2020

Modeller: generation and refinement of homology-based protein structure models

1 reference

12 December 2020

CGHPRO -- a comprehensive data analysis tool for array CGH.

1 reference

12 December 2020

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

12 December 2020

NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders

1 reference

12 December 2020

Use of non-crystallographic symmetry in protein structure refinement

1 reference

12 December 2020

Potentiation of Glycine-Gated NR1/NR3A NMDA Receptors Relieves Ca-Dependent Outward Rectification.

1 reference

12 December 2020

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

12 December 2020

An intramembrane aromatic network determines pentameric assembly of Cys-loop receptors

1 reference

12 December 2020

Subunit arrangement and function in NMDA receptors

1 reference

12 December 2020

NMDA receptor GluN2B (GluR epsilon 2/NR2B) subunit is crucial for channel function, postsynaptic macromolecular organization, and actin cytoskeleton at hippocampal CA3 synapses

1 reference

12 December 2020

Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor epsilon 1 subunit

1 reference

12 December 2020

Role of distinct NMDA receptor subtypes at central synapses

1 reference

12 December 2020

Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon 2 subunit mutant mice

1 reference

12 December 2020

Oligonucleotide array-based comparative genomic hybridization (aCGH) of 90 neuroblastomas reveals aberration patterns closely associated with relapse pattern and outcome

1 reference

12 December 2020

Genetic enhancement of memory and long-term potentiation but not CA1 long-term depression in NR2B transgenic rats

1 reference

12 December 2020

PANTHER: a library of protein families and subfamilies indexed by function

1 reference

12 December 2020

X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor

1 reference

12 December 2020

Increased thresholds for long-term potentiation and contextual learning in mice lacking the NMDA-type glutamate receptor epsilon1 subunit

1 reference

12 December 2020

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

1 reference

12 December 2020

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.677

1 reference

Dimensions Publication ID

9 November 2017

0 references

1 reference