Frequency of the DI*A, DI*B and Band 3 Memphis polymorphism among distinct groups in Brazil

Kaliniczenko, A.; Martins, Juliana Oliveira; Cruz, Bruno Ribeiro; Chiba, Akemi Kuroda; Filho, João Paulo Botelho Vieira; Bordin, José Orlando

doi:10.1016/j.htct.2022.03.002

Cited by 2 publications

(2 citation statements)

References 18 publications

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“…The existence of the identified variants in the probands of the enrolled patients was confirmed using conventional PCR-Sanger sequencing. Genotyping for αLELY (low expression allele of SPTA1), UGT1A1, and Memphis I and II (SLC4A1) was also performed using conventional PCR-Sanger sequencing for all patients [12][13][14][15] .…”

Section: Methodsmentioning

confidence: 99%

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

et al. 2023

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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: Methodsmentioning

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

“…The existence of the identi ed variants in the probands of the enrolled patients was con rmed using conventional PCR-Sanger sequencing. Genotyping for αLELY (low expression allele of SPTA1), UGT1A1, and Memphis I and II (SLC4A1) was also performed using conventional PCR-Sanger sequencing for all patients [12][13][14][15] .…”

Section: Methodsmentioning

confidence: 99%

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

Yamamoto

Nakahara

Ogura

et al. 2022

Preprint

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 the erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported. We analyzed the genomic background of 23 Japanese patients suspected DHSt using a target capture sequence and identified pathogenic/likely pathogenic variants of PIEZO1 or KCNN4 in 12 families.

show abstract

Frequency of the DIA, DIB and Band 3 Memphis polymorphism among distinct groups in Brazil

Cited by 2 publications

References 18 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

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

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