Mild erythrocytosis as a presenting manifestation of PIEZO1 associated erythrocyte volume disorders

The Mechanosensitive Ion Channel Piezo Inhibits Axon Regeneration

(2019) Yuanquan Song et al.   NEURON

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

(2018) Rachael F. Grace et al.   BLOOD

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing

(2018) Joonhong Park et al.   PEDIATRIC BLOOD & CANCER

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

(2018) Andolfo Immacolata et al.   AMERICAN JOURNAL OF HEMATOLOGY

Attention Deficit–Hyperactivity Disorder and Month of School Enrollment

(2018) Timothy J. Layton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evidence for shear-mediated Ca2+entry through mechanosensitive cation channels in human platelets and a megakaryocytic cell line

(2017) Zeki Ilkan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation

(2017) Ahmar U. Zaidi et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Advances in understanding the pathogenesis of the red cell volume disorders

(2016) Catherine Badens et al.   BRITISH JOURNAL OF HAEMATOLOGY

New insights on hereditary erythrocyte membrane defects

(2016) Immacolata Andolfo et al.   HAEMATOLOGICA

Mechanosensing is critical for axon growth in the developing brain

(2016) David E Koser et al.   NATURE NEUROSCIENCE

New insights on hereditary erythrocyte membrane defects

(2016) Immacolata Andolfo et al.   HAEMATOLOGICA

Dehydrated hereditary stomatocytosis masquerading as MDS

(2015) M. Paessler et al.   BLOOD

Architecture of the mammalian mechanosensitive Piezo1 channel

(2015) Jingpeng Ge et al.   NATURE

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

(2015) Elisavet Fotiou et al.   Nature Communications

Hereditary xerocytosis revisited

(2014) Natasha M. Archer et al.   AMERICAN JOURNAL OF HEMATOLOGY

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Stretch-activated ion channel Piezo1 directs lineage choice in human neural stem cells

(2014) Medha M. Pathak et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

(2013) I. Andolfo et al.   BLOOD

The Association Between Heterozygosity for UGT1A1*6, UGT1A1*28, and Variation in the Serum Total-Bilirubin Level in Healthy Young Japanese Adults

(2013) Hiroyuki Moriya et al.   Genetic Testing and Molecular Biomarkers

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

(2013) C. Bae et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

(2013) Juliette Albuisson et al.   Nature Communications

LNKMutations inJAK2Mutation–Negative Erythrocytosis

(2010) Terra L. Lasho et al.   NEW ENGLAND JOURNAL OF MEDICINE