相似文献
1
A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.
Haematologica. 2012 Feb;97(2):318-20. doi: 10.3324/haematol.2011.055038. Epub 2011 Nov 18.
2
[Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia].
Zhonghua Nei Ke Za Zhi. 2011 Nov;50(11):922-5.
3
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
Am J Med Genet A. 2010 Dec;152A(12):3157-63. doi: 10.1002/ajmg.a.33748.
4
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Haematologica. 2010 Jan;95(1):168-9. doi: 10.3324/haematol.2009.015370.
5
Novel Gene Mutation in a Chinese Boy with Severe Congenital Neutropenia.
Indian J Pediatr. 2018 Oct;85(10):916-917. doi: 10.1007/s12098-018-2685-1. Epub 2018 May 9.
6
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e62-e67. doi: 10.1097/MPH.0000000000002071.
7
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Pediatr Blood Cancer. 2019 Oct;66(10):e27923. doi: 10.1002/pbc.27923. Epub 2019 Jul 19.
8
Severe congenital neutropenia with mastoidectomy: A case report of HAX1.
Klin Padiatr. 2021 Nov;233(6):303-305. doi: 10.1055/a-1479-2692. Epub 2021 Jun 8.
9
Digenic mutations in severe congenital neutropenia.
Haematologica. 2010 Jul;95(7):1207-10. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10.
10
A zebrafish model for HAX1-associated congenital neutropenia.
Haematologica. 2021 May 1;106(5):1311-1320. doi: 10.3324/haematol.2019.240200.
引用本文的文献
1
Anti-apoptotic HAX-1 suppresses cell apoptosis by promoting c-Abl kinase-involved ROS clearance.
Cell Death Dis. 2022 Apr 4;13(4):298. doi: 10.1038/s41419-022-04748-2.
2
Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.
Front Pediatr. 2020 Dec 14;8:586859. doi: 10.3389/fped.2020.586859. eCollection 2020.
3
Novel Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia.
Case Rep Pediatr. 2018 Nov 27;2018:2798621. doi: 10.1155/2018/2798621. eCollection 2018.
本文引用的文献
1
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Haematologica. 2010 Jan;95(1):168-9. doi: 10.3324/haematol.2009.015370.
2
Molecular basis of congenital neutropenia.
Haematologica. 2009 Oct;94(10):1333-6. doi: 10.3324/haematol.2009.012260.
3
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Pediatr Blood Cancer. 2009 Dec;53(6):1143-6. doi: 10.1002/pbc.22131.
4
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.
5
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
J Intern Med. 2008 Oct;264(4):388-400. doi: 10.1111/j.1365-2796.2008.01982.x. Epub 2008 May 29.
6
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Blood. 2008 May 15;111(10):4954-7. doi: 10.1182/blood-2007-11-120667. Epub 2008 Mar 12.
7
Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons.
Nature. 2008 Mar 6;452(7183):98-102. doi: 10.1038/nature06604. Epub 2008 Feb 20.
8
Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.
Haematologica. 2007 Dec;92(12):e123-5. doi: 10.3324/haematol.11973.
9
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24.
10
Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.
Acta Paediatr. 2006 Dec;95(12):1526-32. doi: 10.1080/08035250601087607.
Zotero 插件