關於「HUWE1 syndrome symptoms」標籤，搜尋引擎有相關的訊息討論：

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes。

12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks ...： tw | tw。

HUWE1 variants cause dominant X-linked intellectual disability - NCBI。

2017年11月27日 · Whole-gene duplications and missense variants in the HUWE1 gene ... Carrier females are usually described as normal or less symptomatic, ...： 。

Impaired oxidative stress response characterizes HUWE1-promoted ...。

2017年11月8日 · Mutations in the HECT, UBA and WWE domain-containing 1 (HUWE1) E3 ubiquitin ligase cause neurodevelopmental disorder X-linked intellectual ...。

(PDF) HUWE1 variants cause dominant X-linked intellectual disability。

3 天前 · PDF | Whole-gene duplications and missense variants in the HUWE1 gene ... Project: DiGeNeDD: Disentangling the genetic causes of the ...。

Ubiquitination by HUWE1 in tumorigenesis and beyond - Journal of ...。

2018年9月4日 · HUWE1 is a multifaceted HECT domain-containing ubiquitin E3 ligase, ... and may serve as a possible therapeutic target for cancer treatment.。

HUWE1 is a critical colonic tumour suppressor gene that prevents ...。

Together, these data define HUWE1 as a critical intestinal tumour suppressor ... a conditional deletion allele of Huwe1 (Huwe1fl) to generate experimental ...。

Increased p53 signaling impairs neural differentiation causing ...。

2020年5月11日 · Clinical findings associated with HUWE1-promoted XLID syndromes are heterogenous and ... the microcephaly and undergrowth, key JMS symptoms.。

DNA damage-induced activation of CUL4B targets HUWE1 for ...。

2015年4月16日 · The E3 ubiquitin ligase HUWE1/Mule/ARF-BP1 plays an important role ... of HUWE1 was reduced following treatment with the DNA damage agents ...。

HUWE1 mediates inflammasome activation and promotes host ... - JCI。

2020年10月26日 · Then, Huwe1+/Y and Huwe1fl/Y BMDMs after 4-OHT treatment were stimulated with LPS and ATP for NLRP3 inflammasome activation; transfected with ...。

HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1。

▽ Molecular Genetics. In affected individuals from 3 unrelated families with Turner-type X-linked syndromic intellectual developmental disorder (MRXST; 309590) ...： symptoms? tw