U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 42

1.
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).
M Carella, G Stewart, J F Ajetunmobi, S Perrotta, S Grootenboer, G Tchernia, J Delaunay, A Totaro, L Zelante, P Gasparini, A Iolascon
Am J Hum Genet. 1998 Sep; 63(3): 810–816. doi: 10.1086/302024
PMCID:
PMC1377412
Abstract
2.
Dehydrated hereditary stomatocytosis: clinical perspectives
Henrik Frederiksen
J Blood Med. 2019; 10: 183–191. Published online 2019 Jul 4. doi: 10.2147/JBM.S179764
PMCID:
PMC6613601
AbstractArticlePDF–525K
3.
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature
Daniele Zama, Giulia Giulietti, Edoardo Muratore, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Andrea Pession
Ital J Pediatr. 2020; 46: 102. Published online 2020 Jul 23. doi: 10.1186/s13052-020-00864-x
PMCID:
PMC7379360
AbstractArticlePDF–573K
4.
‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
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
Sci Rep. 2017; 7: 1744. Published online 2017 May 11. doi: 10.1038/s41598-017-01591-w
PMCID:
PMC5431847
AbstractArticlePDF–2.3M
5.
Dehydrated Hereditary Stomatocytosislinked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
Juliette Albuisson, Swetha E. Murthy, Michael Bandell, Bertrand Coste, Hélène Louis-dit-Picard, Jayanti Mathur, Madeleine Fénéant-Thibault, Gérard Tertian, Jean-Pierre de Jaureguiberry, Pierre-Yves Syfuss, Stuart Cahalan, Loic Garçon, Fabienne Toutain, Pierre Simon Rohrlich, Jean Delaunay, Véronique Picard, Xavier Jeunemaitre, Ardem Patapoutian
Nat Commun. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Nat Commun. 2013; 4: 1884. doi: 10.1038/ncomms2899
Correction in:
Nat Commun, volume 4 on page 2440
PMCID:
PMC3674779
AbstractArticlePDF–591K
6.
Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis
Dhouha Darghouth, Bérengère Koehl, Jean François Heilier, Geoffrey Madalinski, Petra Bovee, Giel Bosman, Jean Delaunay, Christophe Junot, Paul-Henri Roméo
Haematologica. 2011 Dec; 96(12): 1861–1865. doi: 10.3324/haematol.2011.045179
PMCID:
PMC3232270
AbstractArticlePDF–1.3M
7.
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis
Achille Iolascon, Luigia De Falco, Franck Borgese, Maria Rosaria Esposito, Rosa Anna Avvisati, Pietro Izzo, Carmelo Piscopo, Helene Guizouarn, Andrea Biondani, Antonella Pantaleo, Lucia De Franceschi
Haematologica. 2009 Aug; 94(8): 1049–1059. doi: 10.3324/haematol.2008.002873
PMCID:
PMC2719027
AbstractArticlePDF–377K
8.
Temperature effects on cation transport in hereditary stomatocytosis and allied disorders
Suzanne E Coles, Gordon W Stewart
Int J Exp Pathol. 1999 Oct; 80(5): 251–258. doi: 10.1046/j.1365-2613.1999.00120.x
PMCID:
PMC2517829
AbstractArticlePDF–103K
9.
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno
Hum Genome Var. 2023; 10: 8. Published online 2023 Mar 2. doi: 10.1038/s41439-023-00235-y
PMCID:
PMC9981561
AbstractArticlePDF–578K
10.
Dehydrated hereditary stomatocytosis with transient perinatal ascites
A Basu, P Carey, T Cynober, M Chetty, J Delaunay, G Stewart, S Richmond
Arch Dis Child Fetal Neonatal Ed. 2003 Sep; 88(5): F438–F439. doi: 10.1136/fn.88.5.F438
PMCID:
PMC1721605
SummaryPDF–110K
11.
The hereditary stomatocytoses
Joanna F. Flatt, Lesley J. Bruce
Haematologica. 2009 Aug; 94(8): 1039–1041. doi: 10.3324/haematol.2009.010041
PMCID:
PMC2719024
AbstractArticlePDF–305K
12.
SNPs Altering Ammonium Transport Activity of Human Rhesus Factors Characterized by a Yeast-Based Functional Assay
Aude Deschuyteneer, Mélanie Boeckstaens, Christelle De Mees, Pascale Van Vooren, René Wintjens, Anna Maria Marini
PLoS One. 2013; 8(8): e71092. Published online 2013 Aug 13. doi: 10.1371/journal.pone.0071092
PMCID:
PMC3742762
AbstractArticlePDF–6.5M
13.
The structure of a conserved Piezo channel domain reveals a novel beta sandwich fold
Aron Kamajaya, Jens Kaiser, Jonas Lee, Michelle Reid, Douglas C. Rees
Structure. Author manuscript; available in PMC 2015 Oct 7.
Published in final edited form as: Structure. 2014 Oct 7; 22(10): 1520–1527. Published online 2014 Sep 18. doi: 10.1016/j.str.2014.08.009
PMCID:
PMC4192063
AbstractArticlePDF–1.1M
14.
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard
Nat Commun. 2015; 6: 8085. Published online 2015 Sep 3. doi: 10.1038/ncomms9085
Correction in:
Nat Commun. 2019; 10: 1951.
PMCID:
PMC4568316
AbstractArticlePDF–1.0M
15.
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak-Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock
Nat Commun. 2015; 6: 8329. Published online 2015 Sep 21. doi: 10.1038/ncomms9329
PMCID:
PMC4578306
AbstractArticlePDF–1.6M
16.
New insights on hereditary erythrocyte membrane defects
Immacolata Andolfo, Roberta Russo, Antonella Gambale, Achille Iolascon
Haematologica. 2016 Nov; 101(11): 1284–1294. doi: 10.3324/haematol.2016.142463
PMCID:
PMC5394881
AbstractArticlePDF–1.2M
17.
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
Silvia Martin‐Almedina, Sahar Mansour, Pia Ostergaard
J Physiol. 2018 Mar 15; 596(6): 985–992. Published online 2018 Jan 31. doi: 10.1113/JP275718
PMCID:
PMC5851881
AbstractArticlePDF–1.2M
18.
Dietary fatty acids fine-tune Piezo1 mechanical response
Luis O. Romero, Andrew E. Massey, Alejandro D. Mata-Daboin, Francisco J. Sierra-Valdez, Subhash C. Chauhan, Julio F. Cordero-Morales, Valeria Vásquez
Nat Commun. 2019; 10: 1200. Published online 2019 Mar 13. doi: 10.1038/s41467-019-09055-7
PMCID:
PMC6416271
AbstractArticlePDF–20M
19.
Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta‐thalassemia
Yanhui Chen, Qile Lin, Wenpeng Ni, Kunyi Deng, Lilian Li
J Clin Lab Anal. 2023 Dec; 37(23-24): e24991. Published online 2023 Dec 13. doi: 10.1002/jcla.24991
PMCID:
PMC10756938
AbstractArticlePDF–1.0M
20.
Sequence Similarity among Structural Repeats in the Piezo Family of Mechanosensitive Ion Channels
Kevin J. Hendargo, Ashay O. Patel, Onyeka S. Chukwudozie, Gabriel Moreno-Hagelsieb, J. Andrés Christen, Arturo Medrano-Soto, Milton H. Saier, Jr.
Microb Physiol. Author manuscript; available in PMC 2024 Jul 27.
Published in final edited form as: Microb Physiol. 2023; 33(1): 49–62. Published online 2023 Jun 15. doi: 10.1159/000531468
PMCID:
PMC11283329
AbstractArticlePDF–1.0M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center