Literature DB >> 33351129

Gardos channelopathy: functional analysis of a novel KCNN4 variant.

Elisa Fermo1, David Monedero-Alonso2,3, Polina Petkova-Kirova4, Asya Makhro5, Laurent Pérès2,3, Guillaume Bouyer2,3, Anna Paola Marcello1, Filomena Longo6, Giovanna Graziadei7, Wilma Barcellini1, Anna Bogdanova5, Stephane Egee2,3, Lars Kaestner8,9, Paola Bianchi1.   

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Year:  2020        PMID： 33351129      PMCID： PMC7756992          DOI： 10.1182/bloodadvances.2020003285

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


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  18 in total

1.  IKCa agonist (NS309)-elicited all-or-none dehydration response of human red blood cells is cell-age dependent.

Authors:  Rachel V Seear; Virgilio L Lew
Journal:  Cell Calcium       Date:  2011-09-21       Impact factor: 6.817

2.  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

3.  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

4.  Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.

Authors:  Raphaël Rapetti-Mauss; Véronique Picard; Corinne Guitton; Khaldoun Ghazal; Valérie Proulle; Catherine Badens; Olivier Soriani; Loïc Garçon; Hélène Guizouarn
Journal:  Haematologica       Date:  2017-06-15       Impact factor: 9.941

5.  Erythrocyte membrane potentials determined by hydrogen ion distribution.

Authors:  R I Macey; J S Adorante; F W Orme
Journal:  Biochim Biophys Acta       Date:  1978-09-22

Review 6.  Calcium Channels and Calcium-Regulated Channels in Human Red Blood Cells.

Authors:  Lars Kaestner; Anna Bogdanova; Stephane Egee
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

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

Authors:  Immacolata Andolfo; Roberta Russo; Barbara Eleni Rosato; Francesco Manna; Antonella Gambale; Carlo Brugnara; Achille Iolascon
Journal:  Am J Hematol       Date:  2018-10-02       Impact factor: 10.047

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.

Authors:  Elisa Fermo; Anna Bogdanova; Polina Petkova-Kirova; Anna Zaninoni; Anna Paola Marcello; Asya Makhro; Pascal Hänggi; Laura Hertz; Jens Danielczok; Cristina Vercellati; Nadia Mirra; Alberto Zanella; Agostino Cortelezzi; Wilma Barcellini; Lars Kaestner; Paola Bianchi
Journal:  Sci Rep       Date:  2017-05-11       Impact factor: 4.379

10.  Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients.

Authors:  Anna Zaninoni; Elisa Fermo; Cristina Vercellati; Dario Consonni; Anna P Marcello; Alberto Zanella; Agostino Cortelezzi; Wilma Barcellini; Paola Bianchi
Journal:  Front Physiol       Date:  2018-04-27       Impact factor: 4.566
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  7 in total

Review 1.  Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.

Authors:  Young-Woo Nam; Myles Downey; Mohammad Asikur Rahman; Meng Cui; Miao Zhang
Journal:  Acta Pharmacol Sin       Date:  2022-06-17       Impact factor: 7.169

2.  Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity.

Authors:  Razan Orfali; Young-Woo Nam; Hai Minh Nguyen; Mohammad Asikur Rahman; Grace Yang; Meng Cui; Heike Wulff; Miao Zhang
Journal:  Cell Calcium       Date:  2022-01-08       Impact factor: 4.690

3.  Altered Ca2+ Homeostasis in Red Blood Cells of Polycythemia Vera Patients Following Disturbed Organelle Sorting during Terminal Erythropoiesis.

Authors:  Ralfs Buks; Tracy Dagher; Maria Giustina Rotordam; David Monedero Alonso; Sylvie Cochet; Emilie-Fleur Gautier; Philippe Chafey; Bruno Cassinat; Jean-Jacques Kiladjian; Nadine Becker; Isabelle Plo; Stéphane Egée; Wassim El Nemer
Journal:  Cells       Date:  2021-12-24       Impact factor: 6.600

4.  The Function of Ion Channels and Membrane Potential in Red Blood Cells: Toward a Systematic Analysis of the Erythroid Channelome.

Authors:  Marieke von Lindern; Stéphane Egée; Paola Bianchi; Lars Kaestner
Journal:  Front Physiol       Date:  2022-02-01       Impact factor: 4.566

5.  New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.

Authors:  B Allegrini; S Jedele; L David Nguyen; M Mignotet; R Rapetti-Mauss; C Etchebest; O Fenneteau; A Loubat; A Boutet; C Thomas; J Durin; A Petit; C Badens; L Garçon; L Da Costa; H Guizouarn
Journal:  Front Physiol       Date:  2022-08-08       Impact factor: 4.755

6.  Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Authors:  Elisa Fermo; Cristina Vercellati; Anna Paola Marcello; Ebru Yilmaz Keskin; Silverio Perrotta; Anna Zaninoni; Valentina Brancaleoni; Alberto Zanella; Juri A Giannotta; Wilma Barcellini; Paola Bianchi
Journal:  Front Physiol       Date:  2021-05-21       Impact factor: 4.566

7.  Rare Anemias: Are Their Names Just Smoke and Mirrors?

Authors:  Greta Simionato; Richard van Wijk; Stephan Quint; Christian Wagner; Paola Bianchi; Lars Kaestner
Journal:  Front Physiol       Date:  2021-06-10       Impact factor: 4.566
  7 in total

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