Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Literature DB >> 29191841

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

Immacolata Andolfo^1,2, Francesco Manna^3,2, Gianluca De Rosa^3,2, Barbara Eleni Rosato^3,2, Antonella Gambale^3,2, Giovanna Tomaiuolo^2,4, Antonio Carciati^2,4, Roberta Marra^3,2, Lucia De Franceschi⁵, Achille Iolascon^3,2, Roberta Russo^3,2.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2017 PMID： 29191841 PMCID： PMC5830381 DOI： 10.3324/haematol.2017.180687

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

× No keyword cloud information.

15 in total

1. Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

Authors: Edyta Glogowska; Eve R Schneider; Yelena Maksimova; Vincent P Schulz; Kimberly Lezon-Geyda; John Wu; Kottayam Radhakrishnan; Siobán B Keel; Donald Mahoney; Alison M Freidmann; Rachel A Altura; Elena O Gracheva; Sviatoslav N Bagriantsev; Theodosia A Kalfa; Patrick G Gallagher
Journal: Blood Date: 2017-07-17 Impact factor: 22.113

2. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

Authors: Boris E Shmukler; David H Vandorpe; Alicia Rivera; Michael Auerbach; Carlo Brugnara; Seth L Alper
Journal: Blood Cells Mol Dis Date: 2013-08-23 Impact factor: 3.039

3. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Authors: Immacolata Andolfo; Roberta Russo; Francesco Manna; Boris E Shmukler; Antonella Gambale; Giuseppina Vitiello; Gianluca De Rosa; Carlo Brugnara; Seth L Alper; L Michael Snyder; Achille Iolascon
Journal: Am J Hematol Date: 2015-10 Impact factor: 10.047

4. A mutation in the Gardos channel is associated with hereditary xerocytosis.

Authors: Raphael Rapetti-Mauss; Caroline Lacoste; Véronique Picard; Corinne Guitton; Elise Lombard; Marie Loosveld; Vanessa Nivaggioni; Nathalie Dasilva; David Salgado; Jean-Pierre Desvignes; Christophe Béroud; Patrick Viout; Monique Bernard; Olivier Soriani; Henri Vinti; Valérie Lacroze; Madeleine Feneant-Thibault; Isabelle Thuret; Hélène Guizouarn; Catherine Badens
Journal: Blood Date: 2015-07-06 Impact factor: 22.113

5. GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

Authors: Roberta Russo; Immacolata Andolfo; Antonella Gambale; Gianluca De Rosa; Francesco Manna; Alessandra Arillo; Farooq Wandroo; Maria Grazia Bisconte; Achille Iolascon
Journal: Haematologica Date: 2017-05-26 Impact factor: 9.941

6. Digenic inheritance and Mendelian disease.

Authors: James R Lupski
Journal: Nat Genet Date: 2012-12 Impact factor: 38.330

7. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Authors: Immacolata Andolfo; Roberta Russo; Francesco Manna; Gianluca De Rosa; Antonella Gambale; Soha Zouwail; Nicola Detta; Catia Lo Pardo; Seth L Alper; Carlo Brugnara; Alok K Sharma; Lucia De Franceschi; Achille Iolascon
Journal: Haematologica Date: 2016-05-05 Impact factor: 9.941

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

1. Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

2. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

3. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

4. A mutation in the Gardos channel is associated with hereditary xerocytosis.

5. GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

6. Digenic inheritance and Mendelian disease.

7. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

8. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

Review 9. New insights on hereditary erythrocyte membrane defects.

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

Review 1. The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Review 2. Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.

Review 3. Adenosine Triphosphate Release and P2 Receptor Signaling in Piezo1 Channel-Dependent Mechanoregulation.

4. Editorial: Genetics and Genomics of Red Blood Cells.