We identified a homozygous, loss-of-function mutation in PRKCD (PKC未) in a patient who presented with chronic lymphadenopathy, splenomegaly, autoantibodies, elevated immunoglobulins and natural killer dysfunction associated with chronic, low-grade Epstein-Barr virus infection. This mutation markedly ...
LOSS-OF-FUNCTION,BRCA1基因突变,LOSS-OF-FUNCTION基因变异,,BRCA1功能缺失突变已被证明会增加携带等位基因的人患乳腺癌和卵巢癌的风险。用奥拉帕尼等parp抑制剂治疗BRCA突变患者已导致显著反应。BRCA1 loss of function mutations have been shown to increase risk
While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-negative (DN) and gain-of-function (GOF) effects, are less understood. Here, we investigate the protein-level effects of ...
a primary epithelial barrier defect has been anticipated3. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin...
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibit
Bsr-k1 encodes a tetratricopeptiderepeats (TPRs)-containing protein, which binds to mRNAs of multiple OsPAL(OsPAL1–7) genes and promotes their turnover. Loss of functionof the Bsr-k gene leads to accumulation of OsPAL1–7 mRNAs in the bsr-k1 mutant. ...
2a) [13]. Genome sequencing was performed on all family members, and following our in-house analysis pipeline [14], the patient was, initially, found to carry six de novo and nine homozygous rare protein-altering variants, including two that were predicted to lead to loss-of-function (LoF...
of genes essential for neurodevelopment. We identify that OXR1 influences histone arginine methylation by activating protein arginine methyltransferases (PRMTs), suggesting OXR1-dependent mechanisms regulating gene expression during neurodevelopment. We model the function of OXR1 in early human brain ...
Trichomes are specialized epidermal cells that are regularly distributed on the leaves of Arabidopsis plants. During leaf development, each trichome underg... M Hülskamp,S Misa,G Jürgens - 《Cell》 被引量: 1371发表: 1994年 The GLABRA2 gene encodes a homeo domain protein required for normal...
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic ... XZ Liu,D Xie,HJ Yuan,... - 《International Journal ...