Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. - Wikidata - wikimedia - TriplyDB

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

http://www.wikidata.org/entity/Q36081892

about

New insights on hereditary erythrocyte membrane defects Evidence for shear-mediated Ca2+ entry through mechanosensitive cation channels in human platelets and a megakaryocytic cell line.Mechanotransduction activates canonical Wnt/β-catenin signaling to promote lymphatic vascular patterning and the development of lymphatic and lymphovenous valves Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release.Endogenous Piezo1 Can Confound Mechanically Activated Channel Identification and Characterization.Piezo1-dependent regulation of urinary osmolarity.Advances in understanding the pathogenesis of the red cell volume disorders.Building the drains: the lymphatic vasculature in health and disease.Touch, Tension, and Transduction - The Function and Regulation of Piezo Ion Channels.Intestinal lymphatic vasculature: structure, mechanisms and functions.Investigating the structural dynamics of the PIEZO1 channel activation and inactivation by coarse-grained modeling.Transduction of Repetitive Mechanical Stimuli by Piezo1 and Piezo2 Ion Channels.Authors' response to "Comment on: 'Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia'".Homozygous knockout of the piezo1 gene in the zebrafish is not associated with anemia.Piezos thrive under pressure: mechanically activated ion channels in health and disease.Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.A protein interaction mechanism for suppressing the mechanosensitive Piezo channels.Inactivation of Mechanically Activated Piezo1 Ion Channels Is Determined by the C-Terminal Extracellular Domain and the Inner Pore Helix.Disorders of erythrocyte hydration.Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.Lymphangiogenesis guidance by paracrine and pericellular factors.The role of extracellular matrix stiffness in megakaryocyte and platelet development and function.Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?Structure of the mechanically activated ion channel Piezo1.TMEM150C/Tentonin3 Is a Regulator of Mechano-gated Ion Channels.A lever-like transduction pathway for long-distance chemical- and mechano-gating of the mechanosensitive Piezo1 channel.Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.Yoda1 analogue (Dooku1) which antagonizes Yoda1-evoked activation of Piezo1 and aortic relaxation.Voltage gating of mechanosensitive PIEZO channels.GPR68 Senses Flow and Is Essential for Vascular Physiology.Mechanosensing Piezo channels in tissue homeostasis including their role in lungs.

P2860

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P2860

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

http://www.wikidata.org/entity/Q36081892

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

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Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

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type

label

Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

@ast

Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

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prefLabel

Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

@ast

Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

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Nature Communications

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Impaired PIEZO1 function in pa ...... ongenital lymphatic dysplasia.

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Ardem Patapoutian

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Bryan L Krock

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David A Stevenson

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Jayanti Mathur

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Melinda Procter

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Michael Bandell

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Nicola Longo

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Pinar Bayrak-Toydemir

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Ronald W Day

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Rong Mao

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P2860

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

Genome engineering using the CRISPR-Cas9 system

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Piezo proteins are pore-forming subunits of mechanically activated channels.

Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

A method and server for predicting damaging missense mutations

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