(Q38067072)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23236030%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis (English)

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20 February 2020

5

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20 February 2020

Damien Sternberg

14

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20 February 2020

18

Judith Melki

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20 February 2020

author name string

Klaus Dieterich

1

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20 February 2020

Susana Quijano-Roy

2

1 reference

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20 February 2020

Nicole Monnier

3

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20 February 2020

Jie Zhou

4

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20 February 2020

Daniela Avila Smirnow

6

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20 February 2020

Robert Carlier

7

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20 February 2020

Cécile Laroche

8

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20 February 2020

Pascale Marcorelles

9

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20 February 2020

Sandra Mercier

10

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20 February 2020

André Mégarbané

11

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20 February 2020

Sylvie Odent

12

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20 February 2020

Norma Romero

13

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20 February 2020

Isabelle Marty

15

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20 February 2020

Brigitte Estournet

16

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20 February 2020

Pierre-Simon Jouk

17

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20 February 2020

Joël Lunardi

19

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20 February 2020

publication date

11 December 2012

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20 February 2020

published in

Human Molecular Genetics

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20 February 2020

volume

22

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20 February 2020

issue

8

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20 February 2020

page(s)

1483-1492

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A revised and extended classification of the distal arthrogryposes

20 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Arthrogryposis: a review and update

21 January 2018

1 reference

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Hereditary myosin myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Damage-induced neuronal endopeptidase (DINE) is a unique metallopeptidase expressed in response to neuronal damage and activates superoxide scavengers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

GeneHub-GEPIS: digital expression profiling for normal and cancer tissues based on an integrated gene database

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Localization and ontogeny of damage-induced neuronal endopeptidase mRNA-expressing neurons in the rat nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Structural analysis of neprilysin with various specific and potent inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Structural studies of a bifunctional inhibitor of neprilysin and DPP-IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

MRI lesions and infants with neonatal encephalopathy. Is the Apgar score predictive?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Conserved cysteine and tryptophan residues of the endothelin-converting enzyme-1 CXAW motif are critical for protein maturation and enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Molecular distinction between fetal and adult forms of muscle acetylcholine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

A new analytical method to diagnose congenital myasthenia with stimulated single-fiber electromyography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS514

Arthrogryposis Multiplex Congenita

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDS514

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23236030%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference