188 related articles for article (PubMed ID: 36003639)
1. New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.
Allegrini B; Jedele S; David Nguyen L; Mignotet M; Rapetti-Mauss R; Etchebest C; Fenneteau O; Loubat A; Boutet A; Thomas C; Durin J; Petit A; Badens C; Garçon L; Da Costa L; Guizouarn H
Front Physiol; 2022; 13():918620. PubMed ID: 36003639
[TBL] [Abstract][Full Text] [Related]
2. Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.
Rivera A; Vandorpe DH; Shmukler BE; Andolfo I; Iolascon A; Archer NM; Shabani E; Auerbach M; Hamerschlak N; Morton J; Wohlgemuth JG; Brugnara C; Snyder LM; Alper SL
Am J Physiol Cell Physiol; 2019 Aug; 317(2):C287-C302. PubMed ID: 31091145
[TBL] [Abstract][Full Text] [Related]
3. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Andolfo I; Russo R; Manna F; Shmukler BE; Gambale A; Vitiello G; De Rosa G; Brugnara C; Alper SL; Snyder LM; Iolascon A
Am J Hematol; 2015 Oct; 90(10):921-6. PubMed ID: 26178367
[TBL] [Abstract][Full Text] [Related]
4. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Glogowska E; Lezon-Geyda K; Maksimova Y; Schulz VP; Gallagher PG
Blood; 2015 Sep; 126(11):1281-4. PubMed ID: 26198474
[TBL] [Abstract][Full Text] [Related]
5. A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Ghesh L; Besnard T; Joubert M; Picard V; Le Vaillant C; Beneteau C
Clin Genet; 2022 Dec; 102(6):543-547. PubMed ID: 36031591
[TBL] [Abstract][Full Text] [Related]
6. Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.
Rapetti-Mauss R; Picard V; Guitton C; Ghazal K; Proulle V; Badens C; Soriani O; Garçon L; Guizouarn H
Haematologica; 2017 Oct; 102(10):e415-e418. PubMed ID: 28619848
[No Abstract] [Full Text] [Related]
7. 'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.
Fermo E; Bogdanova A; Petkova-Kirova P; Zaninoni A; Marcello AP; Makhro A; Hänggi P; Hertz L; Danielczok J; Vercellati C; Mirra N; Zanella A; Cortelezzi A; Barcellini W; Kaestner L; Bianchi P
Sci Rep; 2017 May; 7(1):1744. PubMed ID: 28496185
[TBL] [Abstract][Full Text] [Related]
8. Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices.
Picard V; Guitton C; Mansour-Hendili L; Jondeau B; Bendélac L; Denguir M; Demagny J; Proulle V; Galactéros F; Garçon L
Front Physiol; 2020; 11():602109. PubMed ID: 33519508
[TBL] [Abstract][Full Text] [Related]
9. Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells.
Yamaguchi Y; Allegrini B; Rapetti-Mauss R; Picard V; Garçon L; Kohl P; Soriani O; Peyronnet R; Guizouarn H
Front Physiol; 2021; 12():736585. PubMed ID: 34737711
[TBL] [Abstract][Full Text] [Related]
10. Diagnosing dehydrated hereditary stomatocytosis due to a
Waldstein S; Arnold-Croop S; Carrel L; Eyster ME
EJHaem; 2021 Aug; 2(3):485-487. PubMed ID: 35844691
[No Abstract] [Full Text] [Related]
11. Clinical and biological features in
Picard V; Guitton C; Thuret I; Rose C; Bendelac L; Ghazal K; Aguilar-Martinez P; Badens C; Barro C; Bénéteau C; Berger C; Cathébras P; Deconinck E; Delaunay J; Durand JM; Firah N; Galactéros F; Godeau B; Jaïs X; de Jaureguiberry JP; Le Stradic C; Lifermann F; Maffre R; Morin G; Perrin J; Proulle V; Ruivard M; Toutain F; Lahary A; Garçon L
Haematologica; 2019 Aug; 104(8):1554-1564. PubMed ID: 30655378
[TBL] [Abstract][Full Text] [Related]
12. A mutation in the Gardos channel is associated with hereditary xerocytosis.
Rapetti-Mauss R; Lacoste C; Picard V; Guitton C; Lombard E; Loosveld M; Nivaggioni V; Dasilva N; Salgado D; Desvignes JP; Béroud C; Viout P; Bernard M; Soriani O; Vinti H; Lacroze V; Feneant-Thibault M; Thuret I; Guizouarn H; Badens C
Blood; 2015 Sep; 126(11):1273-80. PubMed ID: 26148990
[TBL] [Abstract][Full Text] [Related]
13. Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E; Yamamoto KS; Ogura H; Aoki T; Utsugisawa T; Azuma K; Akagawa H; Watanabe K; Muraoka M; Nakamura F; Kamei M; Tatebayashi K; Shinozuka J; Yamane T; Hibino M; Katsura Y; Nakano-Akamatsu S; Kadowaki N; Maru Y; Ito E; Ohga S; Yagasaki H; Morioka I; Yamamoto T; Kanno H
Hum Genome Var; 2023 Mar; 10(1):8. PubMed ID: 36864026
[TBL] [Abstract][Full Text] [Related]
14. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J; Murthy SE; Bandell M; Coste B; Louis-Dit-Picard H; Mathur J; Fénéant-Thibault M; Tertian G; de Jaureguiberry JP; Syfuss PY; Cahalan S; Garçon L; Toutain F; Simon Rohrlich P; Delaunay J; Picard V; Jeunemaitre X; Patapoutian A
Nat Commun; 2013; 4():1884. PubMed ID: 23695678
[TBL] [Abstract][Full Text] [Related]
15. New insights on hereditary erythrocyte membrane defects.
Andolfo I; Russo R; Gambale A; Iolascon A
Haematologica; 2016 Nov; 101(11):1284-1294. PubMed ID: 27756835
[TBL] [Abstract][Full Text] [Related]
16. Mild erythrocytosis as a presenting manifestation of
Knight T; Zaidi AU; Wu S; Gadgeel M; Buck S; Ravindranath Y
Pediatr Hematol Oncol; 2019 Aug; 36(5):317-326. PubMed ID: 31298594
[TBL] [Abstract][Full Text] [Related]
17. A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
Zama D; Giulietti G; Muratore E; Andolfo I; Russo R; Iolascon A; Pession A
Ital J Pediatr; 2020 Jul; 46(1):102. PubMed ID: 32703298
[TBL] [Abstract][Full Text] [Related]
18. The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
Stewart GW; Gibson JS; Rees DC
Br J Haematol; 2023 Nov; 203(4):509-522. PubMed ID: 37679660
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
Andolfo I; Russo R; Rosato BE; Manna F; Gambale A; Brugnara C; Iolascon A
Am J Hematol; 2018 Dec; 93(12):1509-1517. PubMed ID: 30187933
[TBL] [Abstract][Full Text] [Related]
20. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS
Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
