Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
about
Architecture 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 cellsThe European Hematology Association Roadmap for European Hematology Research: a consensus documentEvidence for shear-mediated Ca2+ entry through mechanosensitive cation channels in human platelets and a megakaryocytic cell line.Physiological and pathological functions of mechanosensitive ion channels.The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich foldDehydrated 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 inactivationPrimary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Piezo1 links mechanical forces to red blood cell volumeChemical activation of the mechanotransduction channel Piezo1Piezo1 ion channel pore properties are dictated by C-terminal region.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.Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometerSlower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis)Human PIEZO1: removing inactivation.Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemiaApplications of high-throughput DNA sequencing to benign hematologyLocalized force application reveals mechanically sensitive domains of Piezo1.Red blood cell vesiculation in hereditary hemolytic anemia.Piezo channels: from structure to function.Disorders of erythrocyte volume homeostasis.Piezo1-dependent regulation of urinary osmolarity.Advances in understanding the pathogenesis of the red cell volume disorders.Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.Touch, Tension, and Transduction - The Function and Regulation of Piezo Ion Channels.Piezo1 plays a role in erythrocyte volume homeostasis.Recommendations regarding splenectomy in hereditary hemolytic anemias.Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease.Piezo1 protein induces the apoptosis of human osteoarthritis-derived chondrocytes by activating caspase-12, the signaling marker of ER stress.Investigating the structural dynamics of the PIEZO1 channel activation and inactivation by coarse-grained modeling.Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosisNext generation research and therapy in red blood cell diseases.
P2860
Q27702189-CF02E1A7-645E-46A7-A661-DBF62C23A485Q28076162-DC0146F1-9E54-42A3-8E4D-7C0468079713Q28509047-9E7F87D1-E228-454C-95E5-0AF851E81BDCQ28830861-5DA577DE-C710-4E67-9B76-683A37499D59Q33753349-89166A35-1EAD-4E02-97B3-3B6015C456E1Q34051637-80CBF18C-1C70-48B6-BBA1-1C676044B263Q34315708-7A935743-2695-4744-8782-E41C8C0E7DB5Q34346004-6792FE37-0F32-445E-AAD1-F85482C19D8CQ34509569-07253801-83FC-4B85-995B-7D0E36C8344EQ34601086-8C1035A9-C132-4FBA-8958-3678F875533FQ35104032-2578B392-CAD2-42A6-9AB5-EAE09E18D685Q35602263-880116F7-452B-4971-B79A-DB150325D288Q35639548-1B9035C1-1A1C-40EF-A889-53934EEED2CCQ35639553-0262E745-C444-41A2-809E-4E6C6CCD5253Q35652801-274F7305-772A-4C7A-8D45-64208622833EQ35952581-6C789D1A-915E-4B2F-8AB7-4109DF175F53Q36051078-E7929658-C203-43AD-84D4-950C32A362F5Q36055794-76EFF88E-88D8-4A32-A456-A41B32F19822Q36081892-7F0D4D6D-05B3-47AF-BE56-605027D34074Q36738055-66B67096-ECC4-4AB5-9958-008546F604CCQ37117448-A85B960C-8B25-44C1-B565-01D24216BF5FQ37117457-F1F60A73-B999-4C2F-9999-870ED143B6E3Q37140474-8A5AD91D-C5CE-4FF5-8045-D08D9A9D3ADBQ37334703-01FEB3AB-7DF9-499D-A5C1-BD91ADD6296BQ37338866-3421A874-56C9-4146-9316-319B736F9BDAQ37389845-1955ED91-F4A5-498A-8324-79F86A380336Q38231102-615D8B5A-5E04-4FCD-B81C-91F0A6241351Q38481973-88876DF0-D7E4-4762-8290-E625734F835BQ38782653-7E0159D1-2D32-45C1-B3DF-00B79A752E02Q38880050-211E3EC9-3B0A-46A8-9CF4-FD1A00D76693Q38924874-ED39DCB8-2ACF-42D5-A467-B719A92D0849Q38981562-1742CF95-9174-4291-8915-54D3A7B241F2Q39158751-55A54CA9-36A5-49FE-80A0-CD9F7DC269D1Q40196891-0D264378-A78A-49D1-A6C3-025D8561B393Q40985507-F50CC010-A1A4-4451-963B-BC89415E9D05Q41296922-B045132C-A29A-496A-AB0B-8A34161E9071Q41596452-0FFE6E3C-2AB1-40CB-8D68-DBD4C0E3C478Q42315255-2282044D-CF28-43B8-BD48-008B1CB9DE25Q42368342-3C887A5D-55C4-4243-B8A6-86D4BA2E8759Q42399883-BA1FE611-5683-4F0F-B59F-A62AFBA74E6B
P2860
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Multiple clinical forms of deh ...... rise from mutations in PIEZO1.
@en
Multiple clinical forms of deh ...... rise from mutations in PIEZO1.
@nl
type
label
Multiple clinical forms of deh ...... rise from mutations in PIEZO1.
@en
Multiple clinical forms of deh ...... rise from mutations in PIEZO1.
@nl
prefLabel
Multiple clinical forms of deh ...... rise from mutations in PIEZO1.
@en
Multiple clinical forms of deh ...... rise from mutations in PIEZO1.
@nl
P2093
P50
P1433
P1476
Multiple clinical forms of deh ...... arise from mutations in PIEZO1
@en
P2093
Achille Iolascon
Bertil E Glader
Boris E Shmukler
Carla Auriemma
Carlo Brugnara
David H Vandorpe
Donatella Montanaro
Fara Vallefuoco
Gordon W Stewart
Jean Delaunay
P304
3925-35, S1-12
P356
10.1182/BLOOD-2013-02-482489
P407
P50
P577
2013-03-11T00:00:00Z