Literature DB >> 25044010

Hereditary xerocytosis revisited.

Natasha M Archer1, Boris E Shmukler, Immacolata Andolfo, David H Vandorpe, Radhakrishnan Gnanasambandam, John M Higgins, Alicia Rivera, Mark D Fleming, Frederick Sachs, Philip A Gottlieb, Achille Iolascon, Carlo Brugnara, Seth L Alper, David G Nathan.   

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Year:  2014        PMID： 25044010      PMCID： PMC4237618          DOI： 10.1002/ajh.23799

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  25 in total

1.  Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: a longitudinal study.

Authors:  Sant-Rayn Pasricha; David M Frazer; Donald K Bowden; Gregory J Anderson
Journal:  Blood       Date:  2013-05-08       Impact factor: 22.113

2.  Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss.

Authors:  B E Glader; N Fortier; M M Albala; D G Nathan
Journal:  N Engl J Med       Date:  1974-09-05       Impact factor: 91.245

3.  Patients with hereditary spherocytosis may have clinically significant iron overload when they are also heterozygous for hemochromatosis.

Authors:  D N Mohler; M S Wheby
Journal:  Trans Am Clin Climatol Assoc       Date:  1985

4.  The mechanosensitive ion channel Piezo1 is inhibited by the peptide GsMTx4.

Authors:  Chilman Bae; Frederick Sachs; Philip A Gottlieb
Journal:  Biochemistry       Date:  2011-06-29       Impact factor: 3.162

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

Authors:  Chilman Bae; Radhakrishnan Gnanasambandam; Chris Nicolai; Frederick Sachs; Philip A Gottlieb
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-04       Impact factor: 11.205

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

Authors:  Immacolata Andolfo; Seth L Alper; Lucia De Franceschi; Carla Auriemma; Roberta Russo; Luigia De Falco; Fara Vallefuoco; Maria Rosaria Esposito; David H Vandorpe; Boris E Shmukler; Rupa Narayan; Donatella Montanaro; Maria D'Armiento; Annalisa Vetro; Ivan Limongelli; Orsetta Zuffardi; Bertil E Glader; Stanley L Schrier; Carlo Brugnara; Gordon W Stewart; Jean Delaunay; Achille Iolascon
Journal:  Blood       Date:  2013-03-11       Impact factor: 22.113

7.  Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.

Authors:  S Fargion; M D Cappellini; A Piperno; N Panajotopoulos; G Ronchi; G Fiorelli
Journal:  Am J Clin Pathol       Date:  1986-11       Impact factor: 2.493

8.  Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging.

Authors:  Reijâne Alves de Assis; Carolina Kassab; Fernanda Salles Seguro; Fernando Ferreira Costa; Paulo Augusto Achucarro Silveira; John Wood; Nelson Hamerschlak
Journal:  Einstein (Sao Paulo)       Date:  2013-12

9.  Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes.

Authors:  David H Vandorpe; Chang Xu; Boris E Shmukler; Leo E Otterbein; Marie Trudel; Frederick Sachs; Philip A Gottlieb; Carlo Brugnara; Seth L Alper
Journal:  PLoS One       Date:  2010-01-15       Impact factor: 3.240

10.  Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

Authors:  Immacolata Andolfo; Seth L Alper; Jean Delaunay; Carla Auriemma; Roberta Russo; Roberta Asci; Maria Rosaria Esposito; Alok K Sharma; Boris E Shmukler; Carlo Brugnara; Lucia De Franceschi; Achille Iolascon
Journal:  Am J Hematol       Date:  2012-11-24       Impact factor: 10.047
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  20 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.  A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp.

Authors:  Maria G Rotordam; Elisa Fermo; Nadine Becker; Wilma Barcellini; Andrea Brüggemann; Niels Fertig; Stéphane Egée; Markus Rapedius; Paola Bianchi; Lars Kaestner
Journal:  Haematologica       Date:  2018-09-20       Impact factor: 9.941

3.  Red cell membrane disorders: structure meets function.

Authors:  Mary Risinger; Theodosia A Kalfa
Journal:  Blood       Date:  2020-09-10       Impact factor: 22.113

4.  Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.

Authors:  Shang Ma; Stuart Cahalan; Gregory LaMonte; Nathan D Grubaugh; Weizheng Zeng; Swetha E Murthy; Emma Paytas; Ramya Gamini; Viktor Lukacs; Tess Whitwam; Meaghan Loud; Rakhee Lohia; Laurence Berry; Shahid M Khan; Chris J Janse; Michael Bandell; Christian Schmedt; Kai Wengelnik; Andrew I Su; Eric Honore; Elizabeth A Winzeler; Kristian G Andersen; Ardem Patapoutian
Journal:  Cell       Date:  2018-03-22       Impact factor: 41.582

5.  Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.

Authors:  Elizabeth Yang; Erin B Voelkel; Kimberly Lezon-Geyda; Vincent P Schulz; Patrick G Gallagher
Journal:  Pediatr Blood Cancer       Date:  2017-01-25       Impact factor: 3.167

6.  Diagnosis and clinical management of red cell membrane disorders.

Authors:  Theodosia A Kalfa
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

7.  Hereditary xerocytosis: Diagnostic considerations.

Authors:  Mary Risinger; Edyta Glogowska; Satheesh Chonat; Kejian Zhang; Neha Dagaonkar; Clinton H Joiner; Charles T Quinn; Theodosia A Kalfa; Patrick G Gallagher
Journal:  Am J Hematol       Date:  2017-12-23       Impact factor: 10.047

8.  PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.

Authors:  Shinsaku Imashuku; Hideki Muramatsu; Takashi Sugihara; Yusuke Okuno; Xinan Wang; Kenichi Yoshida; Ayako Kato; Koichi Kato; Yasuaki Tatsumi; Ai Hattori; Shinya Kita; Keishi Oe; Atsushi Sueyoshi; Takeshi Usui; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Seishi Ogawa; Seiji Kojima; Hitoshi Kanno
Journal:  Int J Hematol       Date:  2016-03-14       Impact factor: 2.490

9.  Piezo1-xerocytosis red cell metabolome shows impaired glycolysis and increased hemoglobin oxygen affinity.

Authors:  Laurent Kiger; Lydie Oliveira; Corinne Guitton; Laurence Bendélac; Kaldoun Ghazal; Valérie Proulle; Frédéric Galacteros; Christophe Junot; François Fenaille; Paul-Henri Roméo; Loic Garçon; Véronique Picard
Journal:  Blood Adv       Date:  2021-01-12

10.  Surface model of the human red blood cell simulating changes in membrane curvature under strain.

Authors:  Philip W Kuchel; Charles D Cox; Daniel Daners; Dmitry Shishmarev; Petrik Galvosas
Journal:  Sci Rep       Date:  2021-07-01       Impact factor: 4.379
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