Literature DB >> 1309004

Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin.

P G Gallagher1, W T Tse, A L Scarpa, S E Lux, B G Forget.   

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Year:  1992        PMID： 1309004

Source DB:  PubMed          Journal:  Trans Assoc Am Physicians        ISSN： 0066-9458


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  5 in total

1.  A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.

Authors:  Michael R Hughes; Nicole Anderson; Steven Maltby; Justin Wong; Zorana Berberovic; Connie S Birkenmeier; D James Haddon; Kamal Garcha; Ann Flenniken; Lucy R Osborne; S Lee Adamson; Janet Rossant; Luanne L Peters; Mark D Minden; Robert F Paulson; Chen Wang; Dwayne L Barber; Kelly M McNagny; William L Stanford
Journal:  Exp Hematol       Date:  2010-12-28       Impact factor: 3.084

2.  Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism.

Authors:  Xiong Wang; Na Shen; Ming Huang; Yanjun Lu; Qun Hu
Journal:  Haematologica       Date:  2018-02-15       Impact factor: 9.941

3.  A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.

Authors:  P Jarolim; H L Rubin; V Brabec; J Palek
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

4.  Identification of a small cytoplasmic ankyrin (AnkG119) in the kidney and muscle that binds beta I sigma spectrin and associates with the Golgi apparatus.

Authors:  P Devarajan; P R Stabach; A S Mann; T Ardito; M Kashgarian; J S Morrow
Journal:  J Cell Biol       Date:  1996-05       Impact factor: 10.539

5.  Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain.

Authors:  L L Peters; K M John; F M Lu; E M Eicher; A Higgins; M Yialamas; L C Turtzo; A J Otsuka; S E Lux
Journal:  J Cell Biol       Date:  1995-07       Impact factor: 10.539
  5 in total

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