(Q39495967)

12 September 2017

title

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome (English)

1 reference

12 September 2017

Shinji Saitoh

8

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author name string

Yumi Takahashi

1

1 reference

12 September 2017

Kana Hosoki

2

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12 September 2017

Masafumi Matsushita

3

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12 September 2017

Makoto Funatsuka

4

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12 September 2017

Kayoko Saito

5

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12 September 2017

Hiroshi Kanazawa

6

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12 September 2017

Yu-Ichi Goto

7

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12 September 2017

language of work or name

1 reference

2 August 2011

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

12 September 2017

published in

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12 September 2017

volume

156B

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12 September 2017

issue

7

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12 September 2017

page(s)

799-807

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Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.

12 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Plasticity-induced growth of dendritic spines by exocytic trafficking from recycling endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

Angelman syndrome 2005: updated consensus for diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31221

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.31221

1 reference

release_dv5ij2jgpbagdmcxxsejsmv5om

12 September 2017

Fatcat ID

0 references

1 reference