The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (Q38067072)

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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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Damien Sternberg

14

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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

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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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Cécile Laroche

8

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Pascale Marcorelles

9

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Sandra Mercier

10

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20 February 2020

André Mégarbané

11

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Sylvie Odent

12

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Norma Romero

13

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Isabelle Marty

15

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20 February 2020

Brigitte Estournet

16

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Pierre-Simon Jouk

17

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Joël Lunardi

19

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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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page(s)

1483-1492

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20 February 2020

issue

8

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A revised and extended classification of the distal arthrogryposes

20 February 2020

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

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

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

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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Germline mutation in DOK7 associated with fetal akinesia deformation sequence

21 January 2018

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon

21 January 2018

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Structural analysis of neprilysin with various specific and potent inhibitors

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Identifiers

DOI

10.1093/HMG/DDS514

1 reference

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20 February 2020

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