Literature DB >> 12211198

Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus.

Hitoshi Kanno, Koko Murakami, Yumi Hariyama, Kaoru Ishikawa, Shiro Miwa, Hisaichi Fujii.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2002        PMID: 12211198     DOI: 10.1182/blood-2002-05-1599

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


× No keyword cloud information.
  4 in total

1.  De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Authors:  Volkan Okur; Megan T Cho; Richard van Wijk; Brigitte van Oirschot; Jonathan Picker; Stephanie A Coury; Dorothy Grange; Linda Manwaring; Ian Krantz; Colleen Clark Muraresku; Peter J Hulick; Holley May; Eric Pierce; Emily Place; Kinga Bujakowska; Aida Telegrafi; Ganka Douglas; Kristin G Monaghan; Amber Begtrup; Ashley Wilson; Kyle Retterer; Kwame Anyane-Yeboa; Wendy K Chung
Journal:  Eur J Hum Genet       Date:  2019-02-18       Impact factor: 4.246

2.  First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis.

Authors:  Karen M K de Vooght; Wouter W van Solinge; Annet C van Wesel; Sabina Kersting; Richard van Wijk
Journal:  Haematologica       Date:  2009-07-16       Impact factor: 9.941

3.  A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Authors:  Lori S Sullivan; Daniel C Koboldt; Sara J Bowne; Steven Lang; Susan H Blanton; Elizabeth Cadena; Cheryl E Avery; Richard A Lewis; Kaylie Webb-Jones; Dianna H Wheaton; David G Birch; Razck Coussa; Huanan Ren; Irma Lopez; Christina Chakarova; Robert K Koenekoop; Charles A Garcia; Robert S Fulton; Richard K Wilson; George M Weinstock; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-09-04       Impact factor: 4.799

4.  Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits.

Authors:  Amélie Bonnefond; Martine Vaxillaire; Yann Labrune; Cécile Lecoeur; Jean-Claude Chèvre; Nabila Bouatia-Naji; Stéphane Cauchi; Beverley Balkau; Michel Marre; Jean Tichet; Jean-Pierre Riveline; Samy Hadjadj; Yves Gallois; Sébastien Czernichow; Serge Hercberg; Marika Kaakinen; Susanne Wiesner; Guillaume Charpentier; Claire Lévy-Marchal; Paul Elliott; Marjo-Riitta Jarvelin; Fritz Horber; Christian Dina; Oluf Pedersen; Robert Sladek; David Meyre; Philippe Froguel
Journal:  Diabetes       Date:  2009-08-03       Impact factor: 9.461

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.