(Q73455552)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

J A Ellis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C A Brown

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

L D Tilley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J Kendrick-Jones

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J E Spence

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J R Yates

6

1 reference

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4 November 2019

publication date

1 January 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

published in

Neuromuscular Disorders

1 reference

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4 November 2019

volume

10

1 reference

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4 November 2019

issue

1

1 reference

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4 November 2019

page(s)

24-30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

cites work

Emery-Dreifuss syndrome

1 reference

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7 January 2021

Structure and mapping of the human thymopoietin (TMPO) gene and relationship of human TMPO beta to rat lamin-associated polypeptide 2

1 reference

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7 January 2021

cDNA cloning and characterization of lamina-associated polypeptide 1C (LAP1C), an integral protein of the inner nuclear membrane

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7 January 2021

The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Immunocytochemical detection of emerin within the nuclear matrix

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Colocalization of emerin and lamins in interphase nuclei and changes during mitosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

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7 January 2021

X-linked scapuloperoneal syndrome

1 reference

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7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

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7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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7 January 2021

The post-synthetic sorting of endogenous membrane proteins examined by the simultaneous purification of apical and basolateral plasma membrane fractions from Caco-2 cells

1 reference

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7 January 2021

Identification and characterization of a novel protein (p137) which transcytoses bidirectionally in Caco-2 cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Intracellular protein topogenesis

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7 January 2021

A class of membrane proteins with a C-terminal anchor

1 reference

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7 January 2021

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Membrane protein assembly: genetic, evolutionary and medical perspectives

1 reference

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7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900059-0

7 January 2021

10.1016/S0960-8966(99)00059-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677860%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference