Literature DB >> 20065084

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

Marina Lanciotti, Stefania Indaco, Sonia Bonanomi, Tiziana Coliva, Elena Mastrodicasa, Gianluca Caridi, Michaela Calvillo, Carlo Dufour.   

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Year:  2010        PMID： 20065084      PMCID： PMC2805731          DOI： 10.3324/haematol.2009.015370

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


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  8 in total

1.  Molecular basis of congenital neutropenia.

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

Review 2.  Neutrophil elastase in cyclic and severe congenital neutropenia.

Authors:  Marshall S Horwitz; Zhijun Duan; Brice Korkmaz; Hu-Hui Lee; Matthew E Mealiffe; Stephen J Salipante
Journal:  Blood       Date:  2006-10-19       Impact factor: 22.113

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.  Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene.

Authors:  Marina Lanciotti; Gianluca Caridi; Camillo Rosano; Simona Pigullo; Tiziana Lanza; Carlo Dufour
Journal:  Br J Haematol       Date:  2009-07-06       Impact factor: 6.998

5.  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

6.  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

7.  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

8.  Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

Authors:  Bradley N Smith; Phil J Ancliff; Arnold Pizzey; Asim Khwaja; David C Linch; Rosemary E Gale
Journal:  Br J Haematol       Date:  2008-11-22       Impact factor: 6.998
  8 in total
  6 in total

1.  Digenic mutations in severe congenital neutropenia.

Authors:  Manuela Germeshausen; Cornelia Zeidler; Manfred Stuhrmann; Marina Lanciotti; Matthias Ballmaier; Karl Welte
Journal:  Haematologica       Date:  2010-03-10       Impact factor: 9.941

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

Authors:  Sheng-Li Xue; Jin-Li Li; Jing-Ying Zou; Jian Su; Su-Ning Chen; De-Pei Wu
Journal:  Haematologica       Date:  2011-11-18       Impact factor: 9.941

3.  HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.

Authors:  Kaan Boztug; Xiao-Qi Ding; Hans Hartmann; Lena Ziesenitz; Alejandro A Schäffer; Jana Diestelhorst; Dietmar Pfeifer; Giridharan Appaswamy; Sonja Kehbel; Thorsten Simon; Abdullah Al Jefri; Heinrich Lanfermann; Christoph Klein
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

4.  Endoplasmic reticulum (ER) stress triggers Hax1-dependent mitochondrial apoptotic events in cardiac cells.

Authors:  Eltyeb Abdelwahid; Haijie Li; Jianxin Wu; Ana Carolina Irioda; Katherine Athayde Teixeira de Carvalho; Xuelai Luo
Journal:  Apoptosis       Date:  2016-11       Impact factor: 4.677

5.  HAX-1 regulates cyclophilin-D levels and mitochondria permeability transition pore in the heart.

Authors:  Chi Keung Lam; Wen Zhao; Guan-Sheng Liu; Wen-Feng Cai; George Gardner; George Adly; Evangelia G Kranias
Journal:  Proc Natl Acad Sci U S A       Date:  2015-11-09       Impact factor: 11.205

6.  HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.

Authors:  Yanxin Fan; Marta Murgia; Monika I Linder; Yoko Mizoguchi; Cong Wang; Marcin Łyszkiewicz; Natalia Ziȩtara; Yanshan Liu; Stephanie Frenz; Gabriela Sciuccati; Armando Partida-Gaytan; Zahra Alizadeh; Nima Rezaei; Peter Rehling; Sven Dennerlein; Matthias Mann; Christoph Klein
Journal:  J Clin Invest       Date:  2022-05-02       Impact factor: 19.456
  6 in total

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