Literature DB >> 30237267

A gain of function variant in PIEZO1 (E756del) and sickle cell disease.

Helen Rooks1, John Brewin1, Kate Gardner1, Subarna Chakravorty1, Stephan Menzel1, Anke Hannemann2, John Gibson2, David C Rees3.   

Abstract

Entities:  

Year:  2018        PMID： 30237267      PMCID： PMC6395321          DOI： 10.3324/haematol.2018.202697

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


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  15 in total

1.  State of haemoglobin in sickle-cell anaemia.

Authors:  M F PERUTZ; J M MITCHISON
Journal:  Nature       Date:  1950-10-21       Impact factor: 49.962

2.  Psickle, the temporary leaky link between sickling and cellular dehydration.

Authors:  H M Ranney
Journal:  J Clin Invest       Date:  1997-06-01       Impact factor: 14.808

3.  Kinetics and mechanism of deoxyhemoglobin S gelation: a new approach to understanding sickle cell disease.

Authors:  J Hofrichter; P D Ross; W A Eaton
Journal:  Proc Natl Acad Sci U S A       Date:  1974-12       Impact factor: 11.205

Review 4.  Disorders of erythrocyte hydration.

Authors:  Patrick G Gallagher
Journal:  Blood       Date:  2017-10-19       Impact factor: 22.113

5.  g(HbF): a genetic model of fetal hemoglobin in sickle cell disease.

Authors:  Kate Gardner; Tony Fulford; Nicholas Silver; Helen Rooks; Nikolaos Angelis; Marlene Allman; Siana Nkya; Julie Makani; Jo Howard; Rachel Kesse-Adu; David C Rees; Sara Stuart-Smith; Tullie Yeghen; Moji Awogbade; Raphael Z Sangeda; Josephine Mgaya; Hamel Patel; Stephen Newhouse; Stephan Menzel; Swee Lay Thein
Journal:  Blood Adv       Date:  2018-02-13

6.  Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels.

Authors:  Bertrand Coste; Jayanti Mathur; Manuela Schmidt; Taryn J Earley; Sanjeev Ranade; Matt J Petrus; Adrienne E Dubin; Ardem Patapoutian
Journal:  Science       Date:  2010-09-02       Impact factor: 47.728

7.  Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Authors:  Ryan Zarychanski; Vincent P Schulz; Brett L Houston; Yelena Maksimova; Donald S Houston; Brian Smith; Jesse Rinehart; Patrick G Gallagher
Journal:  Blood       Date:  2012-04-23       Impact factor: 22.113

8.  The clinical significance of K-Cl cotransport activity in red cells of patients with HbSC disease.

Authors:  David C Rees; Swee Lay Thein; Anna Osei; Emma Drasar; Sanjay Tewari; Anke Hannemann; John S Gibson
Journal:  Haematologica       Date:  2015-03-06       Impact factor: 9.941

9.  A non-electrolyte haemolysis assay for diagnosis and prognosis of sickle cell disease.

Authors:  C Milligan; D C Rees; J C Ellory; A Osei; J A Browning; A Hannemann; J S Gibson
Journal:  J Physiol       Date:  2013-01-07       Impact factor: 5.182

10.  Cation Homeostasis in Red Cells From Patients With Sickle Cell Disease Heterologous for HbS and HbC (HbSC Genotype).

Authors:  A Hannemann; D C Rees; S Tewari; J S Gibson
Journal:  EBioMedicine       Date:  2015-09-18       Impact factor: 8.143
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  10 in total

1.  Sickle cell disease in the era of precision medicine: looking to the future.

Authors:  Martin H Steinberg; Sara Kumar; George J Murphy; Kim Vanuytsel
Journal:  Expert Rev Precis Med Drug Dev       Date:  2019-11-07

2.  Purinergic signaling is essential for full Psickle activation by hypoxia and by normoxic acid pH in mature human sickle red cells and in vitro-differentiated cultured human sickle reticulocytes.

Authors:  David H Vandorpe; Alicia Rivera; Markus Ganter; Selasi Dankwa; Jay G Wohlgemuth; Jeffrey S Dlott; L Michael Snyder; Carlo Brugnara; Manoj Duraisingh; Seth L Alper
Journal:  Pflugers Arch       Date:  2022-02-16       Impact factor: 3.657

Review 3.  Piezo channels for skeletal development and homeostasis: Insights from mouse genetic models.

Authors:  Xuguang Nie; Man-Kyo Chung
Journal:  Differentiation       Date:  2022-07-03       Impact factor: 3.533

4.  Effects of Senegal haplotype (Xmn1-rs7412844), alpha-thalassemia (3.7kb HBA1/HBA2 deletion), NPRL3-rs11248850 and BCL11A-rs4671393 variants on sickle cell nephropathy.

Authors:  El Hadji Malick Ndour; Khuthala Mnika; Fatou Guèye Tall; Moussa Seck; Indou Dème Ly; Victoria Nembaware; Hélène Ange Thérèse Sagna-Bassène; Rokhaya Dione; Aliou Abdoulaye Ndongo; Jean Pascal Demba Diop; Nènè Oumou Kesso Barry; Moustapha Djité; Rokhaya Ndiaye Diallo; Papa Madièye Guèye; Saliou Diop; Ibrahima Diagne; Aynina Cissé; Ambroise Wonkam; Philomène Lopez Sall
Journal:  Int J Biochem Mol Biol       Date:  2022-04-15

5.  A role of PIEZO1 in iron metabolism in mice and humans.

Authors:  Shang Ma; Adrienne E Dubin; Yunxiao Zhang; Seyed Ali Reza Mousavi; Yu Wang; Adam M Coombs; Meaghan Loud; Immacolata Andolfo; Ardem Patapoutian
Journal:  Cell       Date:  2021-02-10       Impact factor: 41.582

Review 6.  Revisiting the malaria hypothesis: accounting for polygenicity and pleiotropy.

Authors:  Emily R Ebel; Lawrence H Uricchio; Dmitri A Petrov; Elizabeth S Egan
Journal:  Trends Parasitol       Date:  2022-01-19

7.  Nobel prize in physiology or medicine 2021, receptors for temperature and touch: Implications for hematology.

Authors:  Immacolata Andolfo; Seth L Alper; Achille Iolascon
Journal:  Am J Hematol       Date:  2021-11-20       Impact factor: 13.265

8.  PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells.

Authors:  Alexis Caulier; Nicolas Jankovsky; Yohann Demont; Hakim Ouled-Haddou; Julien Demagny; Corinne Guitton; Lavinia Merlusca; Delphine Lebon; Pascal Vong; Aurélien Aubry; Agnès Lahary; Christian Rose; Sandrine Gréaume; Emilie Cardon; Jessica Platon; Halima Ouadid-Ahidouch; Jacques Rochette; Jean-Pierre Marolleau; Véronique Picard; Loïc Garçon
Journal:  Haematologica       Date:  2019-08-14       Impact factor: 9.941

9.  Common host variation drives malaria parasite fitness in healthy human red cells.

Authors:  Emily R Ebel; Frans A Kuypers; Carrie Lin; Dmitri A Petrov; Elizabeth S Egan
Journal:  Elife       Date:  2021-09-23       Impact factor: 8.140

10.  Yoda1 and phosphatidylserine exposure in red cells from patients with sickle cell anaemia.

Authors:  R Wadud; A Hannemann; D C Rees; J N Brewin; J S Gibson
Journal:  Sci Rep       Date:  2020-11-18       Impact factor: 4.379
  10 in total

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