Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
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Hyper-IgE syndrome updateAn update on the hyper-IgE syndromesCancers Related to Immunodeficiencies: Update and PerspectivesGenotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsClinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromesA mouse model of HIES reveals pro- and anti-inflammatory functions of STAT3.Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseasesMutations in STAT3 and diagnostic guidelines for hyper-IgE syndromePrimary immunodeficiencies underlying fungal infectionsA review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Mitochondrial Ca²⁺ and membrane potential, an alternative pathway for Interleukin 6 to regulate CD4 cell effector functionThe STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promotersThe Ying and Yang of STAT3 in Human DiseaseMolecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national surveyMolecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation.Genetic Interactions of STAT3 and Anticancer Drug Development.Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review.STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.Zoledronate as effective treatment for minimal trauma fractures in a child with STAT3 deficiency and osteonecrosis of the hip.Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.The Role of Human IL-17 Immunity in Fungal DiseaseSH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function
P2860
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P2860
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
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
Novel and recurrent STAT3 muta ...... from different ethnic groups.
@en
Novel and recurrent STAT3 muta ...... from different ethnic groups.
@nl
type
label
Novel and recurrent STAT3 muta ...... from different ethnic groups.
@en
Novel and recurrent STAT3 muta ...... from different ethnic groups.
@nl
prefLabel
Novel and recurrent STAT3 muta ...... from different ethnic groups.
@en
Novel and recurrent STAT3 muta ...... from different ethnic groups.
@nl
P2093
P1433
P1476
Novel and recurrent STAT3 muta ...... s from different ethnic groups
@en
P2093
Andre Megarbane
Anna Szaflarska
Beáta Dérfalvi
Beáta Tóth
Carlo Akatcherian
Eva Rajnavölgyi
Eva Rákóczi
Gabriella Csorba
Ghassan Dbaibo
Gérard Lefranc
P304
P356
10.1016/J.MOLIMM.2008.07.001
P577
2008-08-15T00:00:00Z