(Q24297376)

English

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

scientific article

In more languages

Statements

scholarly article

0 references

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor (English)

0 references

ATPase H+ transporting accessory protein 2

1 reference

GOA release 2020-03-11

regulation of MAPK cascade

1 reference

GOA release 2020-03-11

10

object named as

Alfons Meindl

0 references

1

object named as

Juliane Ramser

0 references

author name string

Fatima E Abidi

2

0 references

Celine A Burckle

3

0 references

Claus Lenski

4

0 references

Helga Toriello

5

0 references

Gaiping Wen

6

0 references

Herbert A Lubs

7

0 references

Stefanie Engert

8

0 references

Roger E Stevenson

9

0 references

Charles E Schwartz

11

0 references

Genevieve Nguyen

12

0 references

language of work or name

0 references

publication date

15 April 2005

0 references

Human Molecular Genetics

0 references

14

0 references

8

0 references

1019-27

0 references

The relevance of tissue angiotensin-converting enzyme: manifestations in mechanistic and endpoint data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

The brain renin-angiotensin system: location and physiological roles.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Identification of 315 genes essential for early zebrafish development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Crystallographic evidence for preformed dimers of erythropoietin receptor before ligand activation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Receptor signaling: when dimerization is not enough

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Cell signaling by receptor tyrosine kinases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Activation of preformed EGF receptor dimers by ligand-induced rotation of the transmembrane domain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Molecular psychology: roles for the ERK MAP kinase cascade in memory

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

MAPK, CREB and zif268 are all required for the consolidation of recognition memory

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Making new connections: role of ERK/MAP kinase signaling in neuronal plasticity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Renin and angiotensinogen expression and functions in growth and apoptosis of human glioblastoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

21 January 2018

Specific receptor binding of renin on human mesangial cells in culture increases plasminogen activator inhibitor-1 antigen

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

7 January 2021

based on heuristic

inferred from DOI database lookup

It's renin in the brain: transgenic animals elucidate the brain renin angiotensin system

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and quantification of renin and prorenin in the bovine eye

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI094

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

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=Q24297376&oldid=1650808591"