Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants

Oliveira, Priscila de Meira; Balan, Andrea; Muto, Nair Hideko; Cervato, Murilo Castro; Fonseca, Guilherme Henrique Hencklain; Suganuma, Liliana Mitie; Gualandro, Sandra Fátima Menosi; Pinho, João Pedro; Mohandas, Narla; Silveira, Paulo Augusto Achucarro; Sitnik, Roberta

doi:10.1016/j.bcmd.2020.102413

Cited by 4 publications

(3 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The p.L2495_E2496dup is located at the junction of the α2 and α3 intracellular COOH-terminal domains, which is predicted to be involved in pore formation of the ion channel 22 . This variant causes changes in the hydropathicity profile in the regions where it is located, suggesting possible structural change 23 . Picard et al described the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with DHSt 20 .…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

et al. 2023

View full text Add to dashboard Cite

Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported. We analyzed the genomic background of 23 patients from 20 Japanese families suspected of having DHSt using a target capture sequence and identified pathogenic/likely pathogenic variants of PIEZO1 or KCNN4 in 12 families.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Among them, 19 families showed PIEZO1 variants, and 10 of 19 families (53%) had p.L2495_E2496dup. Although this variant has been reported frequently worldwide 8,18,[20][21][22][23][24] , it is not included in ClinVar.…”

Section: Discussionmentioning

confidence: 99%

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

et al. 2023

View full text Add to dashboard Cite

show abstract

“…Functional studies show a link between mutations in Piezo1 and hereditary xerocytosis [de Meira Oliveira et al, 2020], and this channel is believed to play a role in glaucoma involving mechanical stress [Chen et al, 2022]. In part, as noted above, Piezo2 has a more narrow tissue distribution, plays a role in rapidly adapting mechanically activated currents in somatosensory neurons [Coste et al, 2010], is found in tissues that respond to physical touch such as Merkel cells [Wu et al, 2017], and is thought to regulate the response to light touch [Faucherre et al, 2013].…”

Section: Introductionmentioning

confidence: 96%

Sequence Similarity among Structural Repeats in the Piezo Family of Mechanosensitive Ion Channels

Hendargo¹,

Patel²,

Chukwudozie³

et al. 2023

Microb Physiol

View full text Add to dashboard Cite

Members of the Piezo family of mechanically activated cation channels are involved in multiple physiological processes including vascular development, cell differentiation, touch perception, hearing and more. Mutations in these proteins are associated with a variety of diseases, such as colorectal adenomatous polyposis, dehydrated hereditary stomacytosis, and hereditary xerocytosis. Available 3D structures for Piezo proteins show nine regions of four transmembrane segments each that have the same fold. Despite the remarkable similarity among the nine characteristic structural repeats in the family, no significant sequence similarity among them has been reported. Using a bioinformatics approach and the Transporter Classification Database (TCDB) as reference, we reliably identified sequence similarity among repeats based on four lines of evidence: (1) HMM-profile similarities across repeats at the family level, (2) pairwise sequence similarities between different repeats across Piezo homologs, (3) Piezo-specific conserved sequence signatures that consistently identify the same regions across repeats, and (4) conserved residues that maintain the same orientation and location in 3D space.

show abstract

Structural Designs and Mechanogating Mechanisms of the Mechanosensitive Piezo Channels

Jiang

Yang

Jiang

et al. 2021

Trends in Biochemical Sciences

View full text Add to dashboard Cite

Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants

Cited by 4 publications

References 52 publications

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

Sequence Similarity among Structural Repeats in the Piezo Family of Mechanosensitive Ion Channels

Structural Designs and Mechanogating Mechanisms of the Mechanosensitive Piezo Channels

Contact Info

Product

Resources

About