(Q48731956)

15 February 2018

title

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. (English)

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Marija Orlic-Milacic

4

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Peter Kroisel

8

object named as

Peter M Kroisel

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15 February 2018

author name string

Peter J Gianakopoulos

1

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15 February 2018

Yuzhi Zhang

2

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Nela Pencea

3

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Kirti Mittal

5

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Christian Windpassinger

6

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Sara-Jane White

7

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Eva W C Chow

9

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Carol J Saunders

10

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Berge A Minassian

11

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John B Vincent

12

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publication date

27 December 2011

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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volume

159B

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issue

2

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page(s)

210-216

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Differential distribution of the MeCP2 splice variants in the postnatal mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Alternative translation start sites and hidden coding potential of eukaryotic mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Pushing the limits of the scanning mechanism for initiation of translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Optimization of quantitative real-time RT-PCR parameters for the study of lymphoid malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Messenger RNA turnover in eukaryotes: pathways and enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

21 January 2018

The meaning of nonsense

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

Bioinformatic analyses of mammalian 5'-UTR sequence properties of mRNAs predicts alternative translation initiation sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32015

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32015

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15 February 2018

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15 February 2018