ABCA3 Pre-design Chimera RNAi
- Known as:
- ABCA3 Pre-design Chimera RNAi
- Catalog number:
- H00000021-R02
- Product Quantity:
- 10 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- ABCA3 Pre-design Chimera RNAi
Related genes to: ABCA3 Pre-design Chimera RNAi
- Gene:
- ABCA3 NIH gene
- Name:
- ATP binding cassette subfamily A member 3
- Previous symbol:
- ABC3
- Synonyms:
- ABC-C, EST111653, LBM180
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1996-08-08
- Date modifiied:
- 2015-11-13
Related products to: ABCA3 Pre-design Chimera RNAi
Related articles to: ABCA3 Pre-design Chimera RNAi
- ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole-exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management. - Source: PubMed
Publication date: 2026/09/28
Abuzahra AmmirMayalah Mohamad AbuMayaleh Mahmoud Abdelrazzaq AbuDaabes AmaniDweik Rafad YMayaleh Abdelrazzaq Abu - Surfactant-related gene (SRG) variants are an emerging cause of interstitial lung disease/pulmonary fibrosis (ILD/PF). Accurate recognition of these disorders is relevant for diagnosis, genetic counselling, and clinical management. How do SRG-associated ILD/PF present in adults, and what clinical, radiological, and histopathological features characterize their phenotype? We performed a systematic review (PROSPERO CRD42024517610) to describe the clinical features, management, and outcomes of adults with SRG-related ILD/PF. PubMed, Embase, and Web of Science were searched from January 2000 to December 2024 for studies reporting adults (≥18 years) with genetically confirmed SRG variants and ILD/PF. Demographic, clinical, radiological, histological, functional, treatment, and lung transplantation (LT) data were extracted. Thirty-eight studies included 162 adults carrying class 3-5 variants in 2 (61), (52), (31), (16), and (2), including 35 novel variants. Age at diagnosis ranged from 19 to 79 years. Familial ILD predominated in SFTPA1/2, frequently associated with personal or familial lung cancer, whereas variants showed thyroid and neurological involvement. Lung function typically demonstrated mild-to-moderate restriction with impaired diffusing capacity. Chest CT findings were heterogeneous and often indeterminate, while usual interstitial pneumonia was the predominant histological pattern except in -related disease. Treatment approaches varied considerably; LT provided favourable outcomes in selected patients. Adult SRG-related ILD/PF is likely under-recognised because of variable penetrance, wide age at onset, and non-specific imaging features. International registries are needed to improve genotype-phenotype correlations and guide personalised management. - Source: PubMed
Publication date: 2026/09/24
Tirelli ClaudioSanduzzi Zamparelli StefanoLouvrier CamilleMira SabrinaItalia MartaIovine Paola RebeccaAlfano FaustaCentanni StefanoMondoni MicheleNathan NadiaBocchino Marialuisa - Acute myocardial infarction (AMI) increases the risk of arrhythmias, particularly ventricular arrhythmias (VA), and atrial fibrillation (AF) is also common after AMI. The paraventricular nucleus (PVN) is a key regulator of sympathetic outflow. This study used a PVN-centered strategy to investigate molecular changes after AMI, prioritize candidate molecules associated with VA, and assess whether related inflammatory and immune features are also present in AF cohorts. - Source: PubMed
Publication date: 2026/09/03
Wang WenlongZhao WenboChen YuranWang XinJi ChunruiSun JingmeiBai YuYang YuhangQu Xiufen - - Source: PubMed
Queener PageRoss Emma LDeterding Robin - Obstructive total anomalous pulmonary venous connection (TAPVC) and ABCA3-related interstitial lung disease (ILD) rarely coexist. We report a neonate with TAPVC complicated by compound heterozygous ABCA3 variants (c.4180dup/p.V1394fs maternal, c.3446A>G/p.D1149G paternal). Overlapping neonatal respiratory symptoms mask the underlying surfactant disorder, easily causing misdiagnosis and delayed targeted management. This case highlights that the genetic screening for ABCA3 deficiency is mandatory for infants with persistent severe hypoxemia and ventilator dependence after complete TAPVC surgical repair. To our knowledge, this is the first documented co-occurrence of TAPVC and congenital ABCA3-related ILD. - Source: PubMed
Publication date: 2026/09/03
Hao XiaoyanYang ShuangWang QiangZhang YeHe Yihua