Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesArchitecture of the mammalian mechanosensitive Piezo1 channelMammalian touch catches upMutations of GPR126 are responsible for severe arthrogryposis multiplex congenitaDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Piezo proteins: regulators of mechanosensation and other cellular processesTwo 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.Ionic Selectivity and Permeation Properties of Human PIEZO1 Channels.Chemical activation of the mechanotransduction channel Piezo1Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthPiezo channels: from structure to function.Mechanical sensitivity of Piezo1 ion channels can be tuned by cellular membrane tension.Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.Touch, Tension, and Transduction - The Function and Regulation of Piezo Ion Channels.The Role of PIEZO2 in Human Mechanosensation.Piezo2 in Cutaneous and Proprioceptive Mechanotransduction in Vertebrates.Piezo1 protein induces the apoptosis of human osteoarthritis-derived chondrocytes by activating caspase-12, the signaling marker of ER stress.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Investigating the structural dynamics of the PIEZO1 channel activation and inactivation by coarse-grained modeling.Molecular Mechanisms That Contribute to Bone Marrow PainTransduction of Repetitive Mechanical Stimuli by Piezo1 and Piezo2 Ion Channels.Merkel cells and Meissner's corpuscles in human digital skin display Piezo2 immunoreactivity.The Function of the Novel Mechanical Activated Ion Channel Piezo1 in the Human Osteosarcoma Cells.Piezos thrive under pressure: mechanically activated ion channels in health and disease.Cell-Type-Specific Splicing of Piezo2 Regulates Mechanotransduction.Piezo type mechanosensitive ion channel component 1 functions as a regulator of the cell fate determination of mesenchymal stem cells.Inactivation of Mechanically Activated Piezo1 Ion Channels Is Determined by the C-Terminal Extracellular Domain and the Inner Pore Helix.The mechanosensitive Piezo1 channel: structural features and molecular bases underlying its ion permeation and mechanotransduction.Mechanical regulation of musculoskeletal system development.The role of extracellular matrix stiffness in megakaryocyte and platelet development and function.PIEZO2 is required for mechanotransduction in human stem cell-derived touch receptors.Piezo2 channel regulates RhoA and actin cytoskeleton to promote cell mechanobiological responses.Measurement of Vibration Detection Threshold and Tactile Spatial Acuity in Human Subjects.Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.A lever-like transduction pathway for long-distance chemical- and mechano-gating of the mechanosensitive Piezo1 channel.Familial Gordon syndrome associated with a PIEZO2 mutation.Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.Probing the gating mechanism of the mechanosensitive channel Piezo1 with the small molecule Yoda1.A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.Mechanosensing Piezo channels in tissue homeostasis including their role in lungs.
P2860
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P2860
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
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2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
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2014年论文
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name
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@ast
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@en
type
label
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@ast
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@en
prefLabel
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@ast
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@en
P2093
P2860
P50
P1476
Mutations in PIEZO2 cause Gord ...... distal arthrogryposis type 5.
@en
P2093
Alan Fryer
Anita E Beck
Arthur S Aylsworth
Carol L Clericuzio
Constance Stumpel
Cynthia J Curry
David B Everman
David D Weaver
David Mowat
Deborah A Nickerson
P2860
P304
P356
10.1016/J.AJHG.2014.03.015
P407
P577
2014-04-10T00:00:00Z