Literature DB >> 22102707

A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.

Sheng-Li Xue, Jin-Li Li, Jing-Ying Zou, Jian Su, Su-Ning Chen, De-Pei Wu.   

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Year:  2011        PMID： 22102707      PMCID： PMC3269495          DOI： 10.3324/haematol.2011.055038

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  10 in total

1.  Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.

Authors:  Marina Lanciotti; Stefania Indaco; Sonia Bonanomi; Tiziana Coliva; Elena Mastrodicasa; Gianluca Caridi; Michaela Calvillo; Carlo Dufour
Journal:  Haematologica       Date:  2010-01       Impact factor: 9.941

2.  Molecular basis of congenital neutropenia.

Authors:  Christoph Klein
Journal:  Haematologica       Date:  2009-10       Impact factor: 9.941

3.  HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Authors:  Christoph Klein; Magda Grudzien; Giridharan Appaswamy; Manuela Germeshausen; Inga Sandrock; Alejandro A Schäffer; Chozhavendan Rathinam; Kaan Boztug; Beate Schwinzer; Nima Rezaei; Georg Bohn; Malin Melin; Göran Carlsson; Bengt Fadeel; Niklas Dahl; Jan Palmblad; Jan-Inge Henter; Cornelia Zeidler; Bodo Grimbacher; Karl Welte
Journal:  Nat Genet       Date:  2006-12-24       Impact factor: 38.330

4.  Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.

Authors:  Göran Carlsson; Mats Andersson; Katrin Pütsep; Daniel Garwicz; Magnus Nordenskjöld; Jan-Inge Henter; Jan Palmblad; Bengt Fadeel
Journal:  Acta Paediatr       Date:  2006-12       Impact factor: 2.299

5.  Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons.

Authors:  Jyh-Rong Chao; Evan Parganas; Kelli Boyd; Cheol Yi Hong; Joseph T Opferman; James N Ihle
Journal:  Nature       Date:  2008-02-20       Impact factor: 49.962

6.  Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.

Authors:  Göran Carlsson; Göran Elinder; Helena Malmgren; Alicja Trebinska; Ewa Grzybowska; Niklas Dahl; Magnus Nordenskjöld; Bengt Fadeel
Journal:  Pediatr Blood Cancer       Date:  2009-12       Impact factor: 3.167

7.  Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.

Authors:  Manuela Germeshausen; Magda Grudzien; Cornelia Zeidler; Hengameh Abdollahpour; Sevgi Yetgin; Nima Rezaei; Matthias Ballmaier; Bodo Grimbacher; Karl Welte; Christoph Klein
Journal:  Blood       Date:  2008-03-12       Impact factor: 22.113

8.  Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Authors:  N Ishikawa; S Okada; M Miki; K Shirao; H Kihara; M Tsumura; K Nakamura; H Kawaguchi; M Ohtsubo; S Yasunaga; K Matsubara; M Sako; J Hara; M Shiohara; S Kojima; T Sato; Y Takihara; M Kobayashi
Journal:  J Med Genet       Date:  2008-07-08       Impact factor: 6.318

9.  Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

Authors:  G Carlsson; I van't Hooft; M Melin; M Entesarian; E Laurencikas; I Nennesmo; A Trebińska; E Grzybowska; J Palmblad; N Dahl; M Nordenskjöld; B Fadeel; J-I Henter
Journal:  J Intern Med       Date:  2008-05-29       Impact factor: 8.989

10.  Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.

Authors:  K Matsubara; K Imai; S Okada; M Miki; N Ishikawa; M Tsumura; T Kato; O Ohara; S Nonoyama; M Kobayashi
Journal:  Haematologica       Date:  2007-12       Impact factor: 9.941
  10 in total
  1 in total

1.  Anti-apoptotic HAX-1 suppresses cell apoptosis by promoting c-Abl kinase-involved ROS clearance.

Authors:  Qincai Dong; Dapei Li; Huailong Zhao; Xun Zhang; Yue Liu; Yong Hu; Yi Yao; Lin Zhu; Guang-Fei Wang; Hainan Liu; Ting Gao; Xiayang Niu; Tong Zheng; Caiwei Song; Di Wang; Yu Bai; Jing Jin; Zijing Liu; Yanwen Jin; Ping Li; Cheng Cao; Xuan Liu
Journal:  Cell Death Dis       Date:  2022-04-04       Impact factor: 9.685
  1 in total

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