Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
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Congenital neutropenia: diagnosis, molecular bases and patient management.HAX-1 overexpression, splicing and cellular localization in tumors.A novel PrP partner HS-1 associated protein X-1 (HAX-1) protected the cultured cells against the challenge of H₂O₂.Expression of HAX-1 in colorectal cancer and its role in cancer cell growth.History of primary immunodeficiency diseases in iranELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyAnalysis of HAX-1 gene expression in esophageal squamous cell carcinoma.Genetic and molecular diagnosis of severe congenital neutropenia.Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.HAX-1: a family of apoptotic regulators in health and disease.Hax-1: a regulator of calcium signaling and apoptosis progression with multiple roles in human disease.Primary immunodeficiency diseases associated with neurologic manifestations.The demographics of primary immunodeficiency diseases across the unique ethnic groups in Iran, and approaches to diagnosis and treatment.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.Abnormal expression of HAX‑1 is associated with cellular proliferation and migration in human hypopharyngeal squamous cell carcinomaModern management of phagocyte defects.Exploring the anti-apoptotic role of HAX-1 versus BCL-XL in cytokine-dependent bone marrow-derived cells from mice.Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).HAX-1 is a nucleocytoplasmic shuttling protein with a possible role in mRNA processing.N(alpha)-tosyl-L-phenylalanine chloromethyl ketone induces caspase-dependent apoptosis in transformed human B cell lines with transcriptional down-regulation of anti-apoptotic HS1-associated protein X-1.4R-Cembranoid Improves Outcomes after 6-Hydroxydopamine Challenge in Both In vitro and In vivo Models of Parkinson's Disease.A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?Neurological Manifestations of Primary Immunodeficiency Diseases.Neurological Manifestations of Primary ImmunodeficienciesIncidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemiaHematopoietic stem cell transplantation in severe congenital neutropenia
P2860
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P2860
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Central nervous system involve ...... with specific HAX1 mutations.
@en
Central nervous system involve ...... with specific HAX1 mutations.
@nl
type
label
Central nervous system involve ...... with specific HAX1 mutations.
@en
Central nervous system involve ...... with specific HAX1 mutations.
@nl
prefLabel
Central nervous system involve ...... with specific HAX1 mutations.
@en
Central nervous system involve ...... with specific HAX1 mutations.
@nl
P2093
P50
P1476
Central nervous system involve ...... with specific HAX1 mutations.
@en
P2093
A Trebińska
E Grzybowska
E Laurencikas
G Carlsson
I Nennesmo
I van't Hooft
J-I Henter
M Entesarian
P2860
P304
P356
10.1111/J.1365-2796.2008.01982.X
P407
P577
2008-05-29T00:00:00Z