Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.
about
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisTouch sense: functional organization and molecular determinants of mechanosensitive receptorsMechanosensitive channels: feeling tension in a world under pressureArchitecture of the mammalian mechanosensitive Piezo1 channelNew insights on hereditary erythrocyte membrane defectsPiezo1-dependent stretch-activated channels are inhibited by Polycystin-2 in renal tubular epithelial cellsMissense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.Piezo1 integration of vascular architecture with physiological force.Stretch-activated ion channel Piezo1 directs lineage choice in human neural stem cells.Evidence for shear-mediated Ca2+ entry through mechanosensitive cation channels in human platelets and a megakaryocytic cell line.Stretch-activated channel Piezo1 is up-regulated in failure heart and cardiomyocyte stimulated by AngII.Physiological and pathological functions of mechanosensitive ion channels.The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich foldXerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channelsPiezo proteins: regulators of mechanosensation and other cellular processesSynergy between Piezo1 and Piezo2 channels confers high-strain mechanosensitivity to articular cartilage.Protonation of the human PIEZO1 ion channel stabilizes inactivationPiezo1 links mechanical forces to red blood cell volumePiezo1 ion channel pore properties are dictated by C-terminal region.An alternative to force.Activation of TRPV1 channels inhibits mechanosensitive Piezo channel activity by depleting membrane phosphoinositides.Human PIEZO1 Ion Channel Functions as a Split ProteinMutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.Piezo1 regulates mechanotransductive release of ATP from human RBCs.Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometerAdvances in understanding erythropoiesis: evolving perspectivesInsight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disordersCalcium in red blood cells-a perilous balance.Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis)A force of nature: molecular mechanisms of mechanoperception in plants.Applications of high-throughput DNA sequencing to benign hematologyLocalized force application reveals mechanically sensitive domains of Piezo1.Piezo1: properties of a cation selective mechanical channelHereditary red cell membrane disorders and laboratory diagnostic testing.Next-generation sequencing applied to rare diseases genomics.Piezo channels: from structure to function.Disorders of erythrocyte volume homeostasis.Piezo1-dependent regulation of urinary osmolarity.
P2860
Q24599379-E74B7027-4B4B-4B07-8694-2F49492F73F0Q26822488-37F3E86D-6650-457A-8BC3-9686781038BDQ27001636-B0753C62-1B70-4F99-8299-DBD750662405Q27702189-C0E0D925-836B-4900-935D-D8088FB9BD8CQ28076162-DDC54255-AA29-46D5-8C05-AA461E5B4546Q28509047-551EED5F-EDF6-4134-9C23-5461E5495D33Q30424018-06187140-13CF-47D7-A03D-9613D4C0444AQ30597693-84C3771A-EF5C-49F5-B9E6-C73932DF8DEAQ30598757-1C0A67D3-6F30-4AB8-B564-2E052FA1D6C1Q33753349-5C2615D2-C934-4929-8F6B-0A5B4C0851F4Q33850287-AF28D616-69BD-47C7-BC61-493C20C4B6FFQ34051637-2402A7FE-4DF6-4C3C-AD0F-A8E2A7E55E9FQ34315708-4C0914ED-5A0C-413A-885F-2B7732CD7C0EQ34332832-E0B46448-CEF0-44C7-AFD9-041D97FCFCF2Q34346004-B64C9C70-E8C5-4473-9D86-0A19A50EFCDEQ34509569-E518E502-6C2B-4513-887B-5F5B02848834Q34601086-6EC9028D-1EA4-4E1D-B27A-0F431AC03FF4Q35104032-8D4252E1-47BD-4887-88F2-4DB099C5EE01Q35639548-6228BC3A-3E4A-462D-A7B9-EF4C67762A20Q35652801-0C624D0F-260D-4B73-A28E-27D9DAED6106Q35653646-AF36B934-6A03-4E15-B8BD-FB6FB2D72A5DQ35923122-8937C6D6-7FB9-4EA1-966F-B9C415F33391Q35952581-5972CF12-1F33-40EB-B4D2-6B83515A7F5BQ36051078-5BB1A930-768C-41DF-904D-959B972076F3Q36055794-EE480A8B-9B28-4764-88A7-9DB59559B7ECQ36103103-678A5914-E09F-4254-8FFE-5DFD584C56A1Q36738055-F9E89A65-6361-4EFB-A591-366CC0CB7B6AQ36803829-4BAE15D1-B39D-4848-A7EA-12310A3EE612Q36831545-CBEA847A-9720-4735-8DDF-26A89ED7EE77Q36913682-5F567013-8B84-4ED5-AF1B-7A0A54CD8DF0Q37117448-6B4132CD-56F5-451E-AE43-D3B503867668Q37280982-8A543DF3-01B4-418D-8BEC-86A82507001EQ37334703-2671F898-D880-4637-9096-AE5ED3D17A12Q37338866-7AD0C809-98BB-4B0C-89CD-F70E8C762502Q38025903-C3C9B3DF-7CC2-4D8F-93B6-D88DA9E20F5CQ38088425-C2951F29-B68D-4C1F-AAD7-C6C6EAE0CCAFQ38202142-F51B1B75-B3A8-4B00-B3FC-217797837D03Q38231102-1D94EB68-DA9D-493E-8742-5C6A54F0101AQ38481973-9F460F1A-1AC5-4BFE-B6EE-079BBC390CAEQ38782653-8176406F-54A0-4241-9245-CA80C39A3422
P2860
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@ast
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@en
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@nl
type
label
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@ast
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@en
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@nl
prefLabel
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@ast
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@en
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@nl
P2093
P2860
P50
P1433
P1476
Mutations in the mechanotransd ...... d with hereditary xerocytosis.
@en
P2093
Brian Smith
Donald S Houston
Jesse Rinehart
Patrick G Gallagher
Yelena Maksimova
P2860
P304
P356
10.1182/BLOOD-2012-04-422253
P407
P577
2012-04-23T00:00:00Z