MPZL2 antibody Host Rabbit
- Known as:
- MPZL2 (anti-) Host Rabbit
- Catalog number:
- 'H00010205-D01
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- ACR
- Gene target:
- MPZL2 antibody Host Rabbit
Related genes to: MPZL2 antibody Host Rabbit
- Gene:
- MPZL2 NIH gene
- Name:
- myelin protein zero like 2
- Previous symbol:
- EVA1
- Synonyms:
- EVA
- Chromosome:
- 11q24
- Locus Type:
- gene with protein product
- Date approved:
- 1999-11-22
- Date modifiied:
- 2017-04-10
Related products to: MPZL2 antibody Host Rabbit
Related articles to: MPZL2 antibody Host Rabbit
- Hepatocellular carcinoma (HCC) is one of the most prevalent malignant tumors of the liver, with increasing incidence and mortality rates globally. This study investigates the role of endothelial cells (ECs) in the progression of HCC, particularly focusing on the process of endothelial-to-mesenchymal transition (EndMT) and its underlying molecular mechanisms. - Source: PubMed
Publication date: 2026/06/17
Wei FuqunYou XiangChen ZhishengChen YipingChen Zhongwu - To clarify the genetic causes and the mutation spectrum of post-infancy diagnosed sensorineural hearing loss in the Chinese population. - Source: PubMed
Publication date: 2025/10/16
Li WeitaoYu ShaZhu BiyunChen LihengLi HuaweiGuo LuoShu YilaiChen Bing - Hearing loss is the most common sensory organ disorder, with genetic factors contributing substantially to the disease. Among the 87 genes responsible for autosomal recessive nonsyndromic hearing loss, mutations in MPZL2 have been frequently linked to mild-to-moderate autosomal recessive hearing loss (DFNB111). Here, we present multiple families whose hearing loss arose from biallelic mutations in the MPZL2 gene and found that the MPZL2 p.Q74∗ mutation may be a founder allele among East Asians. Furthermore, we generated an Mpzl2 p.Q74∗ knockin mouse model that exhibited autosomal recessive, progressive, ski-sloping hearing loss with Deiter's cell degeneration. Gene supplementation using AAV-DJ or AAV-PHP.eB to deliver human MPZL2 (hMPZL2) under control of the CAG promoter induced ototoxicity, whereas employing an alternative EF1α promoter with AAV-DJ (DJ-EF1α-hMPZL2) circumvented this issue, restoring long-term auditory function and Deiter's cell survival in Mpzl2 mice for up to 24 weeks. Overall, this study provides the foundational steps for developing a safe and effective biological treatment for DFNB111 and underscores the importance of precise regulation of target cells and transgene expression in AAV-based treatments. - Source: PubMed
Publication date: 2025/10/06
Jang Seung HyunSong Hyeong GiJoo Sun YoungKim Jung AhKim Se JinChoi Jae YoungJung JinseiGee Heon Yung - Prelingual sensorineural hearing loss (SNHL) represents about 80% of genetic SNHL, with at least 90 causative genes identified. In order to identify the genetic diagnosis of prelingual SNHL, we performed a prospective study by systematic history-taking and phenotyping, followed by whole-exome sequencing (WES) with target gene analysis in 100 Thai patients. We found an overall diagnostic yield of 46%, 58.3% for familial cases, and 39.0% for sporadic cases. These included 41 cases with nonsyndromic SNHL(nsSNHL) and 5 cases with syndromic SNHL (sSNHL). We identified 41 P/LP and 4 VUS variants of 15 genes. Of those sSNHL, the causative genes were PAX3, SOX10, MITF (Waardenburg and Teitz syndromes), and SLC26A4 (Pendred syndrome). The genetic defects identified among those with nsSNHL were GJB2 and SLC26A4 as the most prevalent causes, followed by MYO15A, MYO7A, POU3F4, OTOF, PCDH15, GSDME, PTEN, ACTG1, TMPRSS3, MITF, and MPZL2. The inheritance of these nsSNHL genes involved X-linked recessive (n = 3), autosomal dominant (n = 3), and autosomal recessive in the remainder (n = 36). Patients with positive mutations underwent surveillance for associated symptoms like goiter and retinitis pigmentosa. In conclusion, most prelingual SNHL was nsSNHL with autosomal recessive inheritance. Identifying the causative gene benefits patients for specific management and genetic counseling. - Source: PubMed
Publication date: 2025/09/25
Damrongchietanon TasyakornWattanasirichaigoon DuangrurdeeKhongkraparn ArthapornNoojarern SaisudaTiravanitchakul RattinanKasemkosin NittayaKiatthanabumrung SivapornTim-Aroon ThipwimolWongkittichote Parith - Hearing loss is one of the most prevalent sensory disorders, but no commercial biological treatments are currently available. Here, we identify an East Asia-specific founder mutation, the homozygous c.220 C > T mutation in MPZL2, that contributes to a significant proportion of hereditary deafness cases in our cohort study. We find that the disease-causing mutation can be targetable by adenine base editors (ABEs) that enable A·T-to-G·C base corrections without DNA double-strand breaks. To demonstrate this, we develop a humanized mouse model (hMPZL2) that recapitulates human MPZL2 deafness and leads to progressive hearing loss. A PAM-flexible ABE variant with reduced bystander and off-target effects (ABE8eWQ-SpRY:sgRNA3) is packaged in dual adeno-associated viruses (AAVs) and injected into the inner ear of hMPZL2 mice and effectively corrects the mutation. This treatment significantly restores hearing function, improves inner ear structural integrity, and reverses altered gene expression. Base editing may hold therapeutic potential for hereditary deafness, including most cases of MPZL2 deafness. - Source: PubMed
Publication date: 2025/08/05
Hu Shao WeiJeong SohyangJiang LuoyingKoo HansolWang ZijingChoi Won HoonZhu BiyunSeok HeeyoungZhou YiKim Min GuMu DanGuo HuixiaZhou ZiyiJung Sung HoZhang YingtingChae Ho ByungChen LihengLee Sung-YeonGuo LuoSuh Myung-WhanXiao YangPark Moo KyunTang HonghaiSong Jae-JinChen XiChen AiLee Jun HoBae SangsuLee Sang-YeonShu Yilai