(Q34770161)

English

Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

author name string

Joseph J Higgins

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Jin Hao

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Barry E Kosofsky

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Anjali M Rajadhyaksha

4

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

publication date

15 April 2008

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

219-223

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Radiological findings in developmental delay

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

The genetics of mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Primary function analysis of human mental retardation related gene CRBN.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Identification and functional characterization of cereblon as a binding protein for large-conductance calcium-activated potassium channel in rat brain

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

mSlo, a complex mouse gene encoding "maxi" calcium-activated potassium channels

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Tissue-specific alternative splicing of BK channel transcripts in Drosophila

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

The appearance of a protein kinase A-regulated splice isoform of slo is associated with the maturation of neurons that control reproductive behavior

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Selective regulation of xSlo splice variants during Xenopus embryogenesis.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Cloning, expression, and distribution of functionally distinct Ca(2+)-activated K+ channel isoforms from human brain

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Increased large conductance calcium-activated potassium (BK) channel expression accompanied by STREX variant downregulation in the developing mouse CNS

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

A cysteine-rich domain defined by a novel exon in a slo variant in rat adrenal chromaffin cells and PC12 cells.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Molecular components of large conductance calcium-activated potassium (BK) channels in mouse pituitary corticotropes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Interacting effects of N-terminal variation and strex exon splicing on slo potassium channel regulation by calcium, phosphorylation, and oxidation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

A 59 amino acid insertion increases Ca(2+) sensitivity of rbslo1, a Ca2+ -activated K(+) channel in renal epithelia.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Distinct stoichiometry of BKCa channel tetramer phosphorylation specifies channel activation and inhibition by cAMP-dependent protein kinase.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Signaling to the nucleus by an L-type calcium channel-calmodulin complex through the MAP kinase pathway

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

BKCa-Cav channel complexes mediate rapid and localized Ca2+-activated K+ signaling

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

CACNA1H mutations in autism spectrum disorders.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0128-2

21 January 2018

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband

1 reference

https://pubmed.ncbi.nlm.nih.gov/18414909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

State-specific rates of mental retardation--United States, 1993.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18414909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An approach to genetic factors in mental retardation. Studies of families containing at least two siblings admitted to a state institution for the retarded.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18414909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18414909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of families with two or more mentally defective siblings; clinical observations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18414909

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-008-0128-2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

ResearchGate publication ID

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