Sheep Contactin Associated Protein 1 ELISA , CNTNAP1
- Known as:
- Sheep Contactin Associated Protein 1 Enzyme-linked immunosorbent assay test , CNTNAP1
- Catalog number:
- E14C0340
- Category:
- -
- Supplier:
- Blue Gene Biotech
- Gene target:
- Sheep Contactin Associated Protein 1 ELISA CNTNAP1
Related genes to: Sheep Contactin Associated Protein 1 ELISA , CNTNAP1
- Gene:
- CNTNAP1 NIH gene
- Name:
- contactin associated protein 1
- Previous symbol:
- NRXN4
- Synonyms:
- p190, Caspr, CNTNAP
- Chromosome:
- 17q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-14
- Date modifiied:
- 2016-10-05
Related products to: Sheep Contactin Associated Protein 1 ELISA , CNTNAP1
Related articles to: Sheep Contactin Associated Protein 1 ELISA , CNTNAP1
- Genetic disorders are major causes of morbidity and mortality in neonatal intensive care units (NICUs), yet traditional tests like karyotyping and chromosomal microarray (CMA) often fail to provide a diagnosis, resulting in a "diagnostic odyssey". Trio whole-genome sequencing (WGS) has emerged as a comprehensive tool capable of detecting a wide range of variants beyond protein-coding regions, potentially offering higher diagnostic yields and rapid, actionable results for critical care management. - Source: PubMed
Publication date: 2026/05/15
Kim Hyun HoChang Yun SilPark Woong-YangPark Joonhong - ObjectiveTo explore the clinical and genetic characteristics of CNTNAP1 gene-related Lethal Congenital Contracture Syndrome Type 7 (LCCS7) and Congenital Hypomyelinating Neuropathy Type 3 (CHN3).MethodsThe clinical data and genetic test results of one patient were retrospectively analyzed. This patient had CNTNAP1 gene-related LCCS7 and admitted to hospital in 2013. A literature review was also conducted by searching for the CNTNAP1 gene or "Lethal Congenital Contracture Syndrome Type 7" or "Congenital Hypomyelinating Neuropathy Type 3" in databases such as CNKI, Wanfang database and PubMed. The clinical and genetic characteristics of CNTNAP1-related LCCS7 and CHN3 diseases were summarized.ResultsThe proband was a female. Prenatal ultrasound showed polyhydramnios, few swallowing and respiratory movements, and a fixed fetal posture. She was born at 33 weeks due to premature rupture of membranes. After birth, she exhibited no cry, respiratory distress, and low muscle tone. She received a series of treatments in the obstetrics department, and was ultimately transferred to neonatology of our hospital due to "respiratory distress in a premature infant." Since the fetus had abnormalities in utero, prenatal family exome sequencing was performed, which revealed two pathogenic mutations, c.1699G > T and c.789G > T, in the CNTNAP1 gene. c.1699G > T was inherited from the father, and c.789G > T was inherited from the mother, confirming compound heterozygosity. The infant died on the 13th day after premature birth. We retrieved 16 reports of CNTNAP1 gene-related LCCS7/CHN3 with 44 patients, and a total of 45 patients were analyzed combined with 1 case in this study. The main clinical manifestations included polyhydramnios (29 cases), fetal akinesia (12 cases), respiratory distress (35 cases), hypotonia (42 cases), hypomyelination (28 cases), and seizures (11 cases).Conclusionthe CNTNAP1 gene test can be considered for polyhydramnios, fetal akinesia, postnatal respiratory distress, hypotonia, and neurological abnormalities. - Source: PubMed
Publication date: 2026/04/16
Zhao MenghuaHuang LiHuang FurongXu JunDuane WangZhang Aimin - CNTNAP1 encodes the Contactin-Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier. It plays a vital role in axonal domain organization and is essential for the propagation of action potentials along nerve fibers. This specialized arrangement of axonal domains, which contain distinct molecular complexes, enables saltatory conduction and significantly increases the speed and efficiency of neuronal communication. To date, there are 47 children with biallelic CNTNAP1 variants who have been reported exhibiting a wide spectrum of phenotypes including congenital hypomyelinating neuropathy, hypotonia, and joint contractures among other clinical features. In this review, we compiled all previously published cases and detailed the specific genetic variants of every known individual, including clinical manifestations. Additionally, we present seven new cases of individuals identified through direct collaborations with clinicians and families, bringing the total to 54 individuals who harbor biallelic variants in CNTNAP1. This review and the additional case studies demonstrate that while children with CNTNAP1 mutations can present with a broad spectrum of symptoms, there is a recurrence of key clinical features across these cases. These key features commonly include respiratory distress, generalized hypotonia, hypomyelination, intellectual disabilities, and reduced life expectancy. These newly described cases provide valuable insights into the phenotypic diversity of CNTNAP1 variants, deepening our understanding of the clinical impact in patients with this rare genetic disorder. - Source: PubMed
Publication date: 2026/02/08
Sell Lacey BGarcia DerekHollá AlexandraChilton IlanaDeVries SethGómez-Moreno Ana MaríaLubián-Gutiérrez ManuelShi QianBhat Manzoor A - Residual feed intake (RFI) is a key indicator of feed efficiency in poultry. Although regulatory links such as the hypothalamus-gut and gut-liver axes have been implicated, most studies remain restricted to single axes or fragmented analyses, and systematic multi-organ integration is lacking. Here, we measured feed efficiency in 1,000 Nonghua ducks and selected 12 individuals with divergent RFI for transcriptomic profiling of the hypothalamus, pituitary, liver, duodenum, jejunum, ileum, and cecum, combined with serum metabolomics. We identified 769 differentially expressed genes (DEGs), with the hypothalamus, liver, and cecum as major contributors, and 28 differential serum metabolites enriched in lipid and amino acid metabolism. Beyond tissue-specific functions, enrichment analysis highlighted several pathways that were repeatedly shared across central and peripheral tissues, including neuroactive ligand-receptor interaction, hormone signaling, steroid hormone biosynthesis, and insulin signaling, suggesting a coordinated regulation of feed efficiency between the brain, gut, and liver. To clarify their relevance, we integrated gene modules with metabolites and identified two candidate cross-organ association frameworks: the MEblack-6-Oxopiperidine-2-carboxylic acid (gut-liver) networks, enriched for liver genes CNTNAP1, SHC3, and RAB36, and cecal genes DCC and CCDC60. The MEblue-LysoPE(18:2(9Z,12Z)/0:0) (gut-brain) networks, enriched for cecal genes FABP6, KCNJ11, and the pituitary gene TRPA1, in which these genes and metabolites may contribute to RFI regulation. Together, these findings provide new insights into cross-organ molecular networks underlying feed efficiency in ducks and establish a valuable resource for future functional studies and breeding strategies. - Source: PubMed
Publication date: 2026/01/27
Guo ShihaoXi YangQi JingjingYang ZhaoHan XuLing WeikangBai LiliHuang AnqiHu ShenqiangHu JiweiHan ChunchunWang JiwenLi LiangLiu Hehe - Clinical phenotypes of neuropathies associated with contactin-associated protein-1 (CASPR1) or isolated CASPR1/contactin-1 (CNTN1)-complex-IgG are not well characterized, and we aimed to describe the same. - Source: PubMed
Publication date: 2026/02/06
Paramasivan Naveen KumarBasal EatiLaFrance-Corey Reghann GArlt Friederike AntoniaKlein Christopher JSwart GraceMozammel AnoushaMauermann Michelle LDyck P James BBerini Sarah EEngelstad JaneanBucelli RobertMagda PaulPniak EwaNagar Charulatha PCrockett Cameron DMcKeon AndrewMills John RDubey Divyanshu