Mutations in the gene encoding pejvakin, a newly identified
2006年6月25日 · Here we report on DFNB59, a newly identified gene on chromosome 2q31.1–q31.3 mutated in four families segregating autosomal recessive auditory neuropathy. …
PJVK Gene - GeneCards | PJVK Protein | PJVK Antibody
2025年3月30日 · Deafness, autosomal recessive, 59 (DFNB59) [MIM: 610220]: A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem …
综述-The gasdermins, a protein family executing cell death and ...
2019年11月17日 · Pejvakin (PJVK；也称为DFNB59或GSDMF)是另一种与耳聋相关的突变蛋白，但最初是从人类睾丸中克隆得到的。 PJVK与GSDME高度相似，PJVK同源基因存在于早期 …
Nature背靠背 | 细胞焦亡在肿瘤免疫方面的全新功能 - 知乎
人类Gasdermin 家族一共有六个成员，包括GSDM A-D, GSDME（又名DFNA5） 以及DFNB59。 研究表明GSDM A-E 都具有膜穿孔（Pore-forming）活性，能够在细胞中诱导细胞焦亡 【4】 …
影响因子80+的细胞焦亡review，了解一下 - 知乎
除DFNB59外，所有GSDMs都由两个不同的结构域组成：C-末端抑制结构域 (RD)和N末端效应结构域 (PFD)，即CT和NT，后者具有细胞毒性。
Novel Pathogenic Variants in - PubMed
2022年1月15日 · Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, …
494513 - Gene ResultPJVK pejvakin [ (human)]
2025年2月8日 · DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy data indicate that nonsense …
DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 - OMIM
2009年10月13日 · A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-59 (DFNB59) is caused by homozygous mutation in the DFNB59 gene …
佩瓦金（PJVK）基因 | MCE
Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Involvement of DFNB59 mutations in autosomal recessive
The 352-amino acid (aa) DFNB59 gene product pejvakin is present in hair cells, supporting cells, spiral ganglion cells, and the first three relays of the afferent auditory pathway. A novel …