(Q36808840)

English

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9

scientific article published on August 2008

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scholarly article

1 reference

Europe PubMed Central

16 August 2017

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9 (English)

1 reference

Europe PubMed Central

16 August 2017

object named as

Ohad S Birk

11

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author name string

Ortal Barel

1

1 reference

Europe PubMed Central

16 August 2017

Stavit A Shalev

2

1 reference

Europe PubMed Central

16 August 2017

Rivka Ofir

3

1 reference

Europe PubMed Central

16 August 2017

Asi Cohen

4

1 reference

Europe PubMed Central

16 August 2017

Joel Zlotogora

5

1 reference

Europe PubMed Central

16 August 2017

Zamir Shorer

6

1 reference

Europe PubMed Central

16 August 2017

Galia Mazor

7

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Europe PubMed Central

16 August 2017

Gal Finer

8

1 reference

Europe PubMed Central

16 August 2017

Shareef Khateeb

9

1 reference

Europe PubMed Central

16 August 2017

Noam Zilberberg

10

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Europe PubMed Central

16 August 2017

language of work or name

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publication date

1 August 2008

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Europe PubMed Central

16 August 2017

American Journal of Human Genetics

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Europe PubMed Central

16 August 2017

83

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Europe PubMed Central

16 August 2017

2

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16 August 2017

193-199

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Europe PubMed Central

16 August 2017

Computational and experimental identification of novel human imprinted genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Fever, febrile seizures and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Motoneurons express heteromeric TWIK-related acid-sensitive K+ (TASK) channels containing TASK-1 (KCNK3) and TASK-3 (KCNK9) subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Differential distribution of TASK-1, TASK-2 and TASK-3 immunoreactivities in the rat and human cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Functional expression of TASK-1/TASK-3 heteromers in cerebellar granule cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Identification of novel imprinted genes in a genome-wide screen for maternal methylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Potassium leak channels and the KCNK family of two-P-domain subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

TASK-3, a new member of the tandem pore K(+) channel family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Tandem repeats finder: a program to analyze DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

29 September 2017

Contribution of TWIK-related acid-sensitive K+ channel 1 (TASK1) and TASK3 channels to the control of activity modes in thalamocortical neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

27 June 2018

TASK-3 knockout mice exhibit exaggerated nocturnal activity, impairments in cognitive functions, and reduced sensitivity to inhalation anesthetics.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

TASK-3 two-pore domain potassium channels enable sustained high-frequency firing in cerebellar granule neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

Membrane potential-regulated transcription of the resting K+ conductance TASK-3 via the calcineurin pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

Membrane resting potential of thalamocortical relay neurons is shaped by the interaction among TASK3 and HCN2 channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

Modifying the subunit composition of TASK channels alters the modulation of a leak conductance in cerebellar granule neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

Expression patterns of the novel imprinted genes Nap1l5 and Peg13 and their non-imprinted host genes in the adult mouse brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

K+-dependent cerebellar granule neuron apoptosis. Role of task leak K+ channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

Exact genetic linkage computations for general pedigrees.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

TASK-3 dominates the background potassium conductance in rat adrenal glomerulosa cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

5 September 2018

Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

4 December 2018

Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2495061

4 December 2018

Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor

1 reference

https://pubmed.ncbi.nlm.nih.gov/18678320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18678320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of genes predisposing to idiopathic generalized epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18678320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.07.010

1 reference

Europe PubMed Central

16 August 2017

1 reference

Europe PubMed Central

16 August 2017

1 reference

Europe PubMed Central

16 August 2017

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