Literature DB >> 29603612

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.

Joonhong Park1,2, Woori Jang1,2, Eunhee Han1,2, Hyojin Chae1,2, Jaeeun Yoo1,2, Yonggoo Kim1,2, Yoo-Jin Kim3, Myungshin Kim1,2.   

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Year:  2018        PMID： 29603612     DOI： 10.1002/pbc.27053

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  2 in total

1.  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

2.  [Pathogenesis and diagnosis of hereditary stomatocytosis].

Authors:  J Q Li; B H Qian
Journal:  Zhonghua Xue Ye Xue Za Zhi       Date:  2020-06-14
  2 in total

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