Literature DB >> 7949112

The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal.

S C Liu, P Jarolim, H L Rubin, J Palek, D Amato, K Hassan, M Zaik, P Sapak.   

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Year:  1994        PMID： 7949112

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  18 in total

1.  Distribution of a 27-bp deletion in the band 3 gene in South Pacific islanders.

Authors:  Masako Kimura; Moedrik Tamam; Augustinus Soemantri; Minato Nakazawa; Yuji Ataka; Ryutaro Ohtsuka; Takafumi Ishida
Journal:  J Hum Genet       Date:  2003-11-15       Impact factor: 3.172

2.  Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Authors:  L J Bruce; D L Cope; G K Jones; A E Schofield; M Burley; S Povey; R J Unwin; O Wrong; M J Tanner
Journal:  J Clin Invest       Date:  1997-10-01       Impact factor: 14.808

3.  Screening of SLC25A13 mutation in the Thai population.

Authors:  Parith Wongkittichote; Chonlaphat Sukasem; Atsuo Kikuchi; Wichai Aekplakorn; Laran T Jensen; Shigeo Kure; Duangrurdee Wattanasirichaigoon
Journal:  World J Gastroenterol       Date:  2013-11-21       Impact factor: 5.742

4.  The SLC4A1 gene is under differential selective pressure in primates infected by Plasmodium falciparum and related parasites.

Authors:  Michael E Steiper; Fiona Walsh; Julia M Zichello
Journal:  Infect Genet Evol       Date:  2012-03-08       Impact factor: 3.342

5.  Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.

Authors:  M Inaba; A Yawata; I Koshino; K Sato; M Takeuchi; Y Takakuwa; S Manno; Y Yawata; A Kanzaki; J Sakai; A Ban; K Ono; Y Maede
Journal:  J Clin Invest       Date:  1996-04-15       Impact factor: 14.808

6.  Overexpression of AE1 Prague, but not of AE1 SAO, inhibits wild-type AE1 trafficking in Xenopus oocytes.

Authors:  M N Chernova; P Jarolim; J Palek; S L Alper
Journal:  J Membr Biol       Date:  1995-11       Impact factor: 1.843

7.  Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.

Authors:  Joanne C Cheung; Emmanuelle Cordat; Reinhart A F Reithmeier
Journal:  Biochem J       Date:  2005-12-15       Impact factor: 3.857

Review 8.  Red cell membrane: past, present, and future.

Authors:  Narla Mohandas; Patrick G Gallagher
Journal:  Blood       Date:  2008-11-15       Impact factor: 22.113

9.  Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Authors:  Pa-Thai Yenchitsomanus; Saranya Kittanakom; Nanyawan Rungroj; Emmanuelle Cordat; Reinhart A F Reithmeier
Journal:  J Mol Genet Med       Date:  2005-11-16

10.  Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.

Authors:  Pa-Thai Yenchitsomanus; Nunghathai Sawasdee; Atchara Paemanee; Thitima Keskanokwong; Somkiat Vasuvattakul; Sasitorn Bejrachandra; Warunee Kunachiwa; Supan Fucharoen; Prapaporn Jittphakdee; Wanwimon Yindee; Charupon Promwong
Journal:  J Hum Genet       Date:  2003-08-21       Impact factor: 3.172
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