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

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

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http://www.wikidata.org/entity/Q38067072
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityGain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisMutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Damage-induced neuronal endopeptidase (DINE) enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.Paired Expression Analysis of Tumor Cell Surface Antigens.A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.ECEL1mutation causes fetal arthrogryposis multiplex congenita
P2860

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

Item
http://www.wikidata.org/entity/Q38067072
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
The neuronal endopeptidase ECE ...... cessive distal arthrogryposis.
@en
type
label
The neuronal endopeptidase ECE ...... cessive distal arthrogryposis.
@en
prefLabel
The neuronal endopeptidase ECE ...... cessive distal arthrogryposis.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
The neuronal endopeptidase ECE ...... ecessive distal arthrogryposis
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698