PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells-Reference-Cited by-同舟云学术

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

Published:2019-03-15 Issue: Volume:10 Page:
ISSN:1664-042X
Container-title:Frontiers in Physiology
language:
Short-container-title:Front. Physiol.

Author:

Andolfo Immacolata,De Rosa Gianluca,Errichiello Edoardo,Manna Francesco,Rosato Barbara Eleni,Gambale Antonella,Vetro Annalisa,Calcaterra Valeria,Pelizzo Gloria,De Franceschi Lucia,Zuffardi Orsetta,Russo Roberta,Iolascon Achille

Funder

European Hematology Association

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Frontiers Media SA

Subject

Physiology (medical),Physiology

Reference34 articles.

1. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated piezo1 ion channels.;Albuisson;Nat. Commun.,2013

2. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.;Andolfo;Blood,2013

3. PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.;Andolfo;Haematologica

4. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.;Andolfo;Am. J. Hematol.

5. New insights on hereditary erythrocyte membrane defects.;Andolfo;Haematologica,2016

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1. Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant;Clinical Case Reports;2024-06

2. The mechanosensory channel PIEZO1 functions upstream of angiopoietin/TIE/FOXO1 signaling in lymphatic development;Journal of Clinical Investigation;2024-05-15

3. PIEZO Ion Channels in Cardiovascular Functions and Diseases;Circulation Research;2024-03

4. The cation‐leaky hereditary stomatocytosis syndromes: A tale of six proteins;British Journal of Haematology;2023-09-07

5. A very rare disease of lymphatic malformation 6: five new patients and review of the literatur;Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi;2023-06-30