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Neonatal genomics

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https://www.readbyqxmd.com/read/28505178/a-reverse-dot-blot-assay-for-the-screening-of-twenty-mutations-in-four-genes-associated-with-nshl-in-a-chinese-population
#1
Siping Li, Qi Peng, Shengyun Liao, Wenrui Li, Qiang Ma, Xiaomei Lu
BACKGROUND: Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS: We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)-associated genes in the Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28501220/7-8-hydroxy-2-deoxyguanosine-2-deoxiguanosine-ratio-determined-in-hydrolysates-of-brain-dna-by-ultrachromatrography-coupled-to-tandem-mass-spectrometry
#2
Isabel Torres-Cuevas, Miguel Aupi, Miguel Angel Asensi, Máximo Vento, Ángel Ortega, Javier Escobar
7,8-hydroxy-2'-deoxyguanosine (8-OHdG) is an abundant DNA lesion formed by oxidation of the nucleoside 2'-deoxyguanosine (2-dG) and one of the most studied and accepted oxidative stress biomarkers. 8-OHdG has a strong carcinogenic potential, and prolonged oxidative stress heightens pathological conditions and especially cancer risk. Our aim was to develop, validate and apply a reliable method to assess DNA oxidation in genomic cellular DNA of sensible target organs such as brain. A procedure to isolate and digest the DNA of brain tissue properly for further detection of 8-OHdG and 2-dG by Ultra Performance Liquid Chromatography-tandem Mass Spectrometry (UPLC-MS/MS) was optimized...
August 1, 2017: Talanta
https://www.readbyqxmd.com/read/28497003/achondroplasia-and-biliary-atresia-a-rare-association-and-review-of-literature
#3
Ranjit I Kylat
Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28493900/genomic-biomarkers-of-prenatal-intrauterine-inflammation-in-umbilical-cord-tissue-predict-later-life-neurological-outcomes
#4
Sloane K Tilley, Robert M Joseph, Karl C K Kuban, Olaf U Dammann, T Michael O'Shea, Rebecca C Fry
BACKGROUND: Preterm birth is a major risk factor for neurodevelopmental delays and disorders. This study aimed to identify genomic biomarkers of intrauterine inflammation in umbilical cord tissue in preterm neonates that predict cognitive impairment at 10 years of age. STUDY DESIGN: Genome-wide messenger RNA (mRNA) levels from umbilical cord tissue were obtained from 43 neonates born before 28 weeks of gestation. Genes that were differentially expressed across four indicators of intrauterine inflammation were identified and their functions examined...
2017: PloS One
https://www.readbyqxmd.com/read/28490584/a-naturally-occurring-recombinant-enterovirus-expresses-a-torovirus-deubiquitinase
#5
Pengcheng Shang, Saurav Misra, Ben Hause, Ying Fang
Enteroviruses are implicated in a wide range of diseases in human and animals. In this study, a novel enterovirus (species G; EVG 08/NC_USA/2015) was isolated from a diagnostic sample of neonatal pig diarrhea case and identified using metagenomics and complete genome sequencing. The viral genome shares 75.4% nucleotide identity with a prototypic EVG strain (PEV9 UKG/410/73). Remarkably, a 582 nucleotide insertion, flanked by 3C(pro) cleavage sites at 5' - and 3' - ends, was found in the 2C/3A junction region of the viral genome...
May 10, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28479870/a-genome-wide-association-analysis-in-four-populations-reveals-strong-genetic-heterogeneity-for-birth-weight
#6
Tiane Luo, Xu Liu, Yuehua Cui
Low or high birth weight is one of the main causes for neonatal morbidity and mortality. They are also associated with adulthood chronic illness. Birth weight is a complex trait which is affected by baby's genes, maternal environments as well as the complex interactions between them. To understand the genetic basis of birth weight, we reanalyzed a genome-wide association study data set which consists of four populations, namely Thai, Afro-Caribbean, European, and Hispanic population with regular linear models...
October 2016: Current Genomics
https://www.readbyqxmd.com/read/28475630/genome-wide-analysis-of-the-evolution-of-senecavirus-a-from-swine-clinical-material-and-assembly-yard-environmental-samples
#7
Wanhong Xu, Kate Hole, Melissa Goolia, Bradley Pickering, Tim Salo, Oliver Lung, Charles Nfon
Senecavirus A (SVA), previously known as Seneca Valley virus, was first isolated in the United States in 2002. SVA was associated with porcine idiopathic vesicular disease in Canada and the USA in 2007 and 2012, respectively. Recent increase in SVA outbreaks resulting in neonatal mortality of piglets and/or vesicular lesions in sows in Brazil, the USA and Canada point to the necessity to study the pathogenicity and molecular epidemiology of the virus. Here, we report the analysis of the complete coding sequences of SVA from 2 clinical cases and 9 assembly yard environmental samples collected in 2015 in Canada, along with 22 previously released complete genomes in the GenBank...
2017: PloS One
https://www.readbyqxmd.com/read/28467809/functional-dissection-of-the-role-of-uhrf1-in-the-regulation-of-retinoblastoma-methylome
#8
Guangyan Kan, Heng He, Qi Zhao, Xiubo Li, Min Li, Huasheng Yang, Jong Kyong Kim
UHRF1 (ubiquitin-like with PHD and RING finger domains 1) is a critical regulator for DNA methylation, and its frequent overexpression in human cancers has been associated with tumor-promoting effects. However, whether the overexpressed UHRF1 contributes to the establishment and maintenance of tumor methylomes and whether this process can affect the tumorigenesis remain unclear. In this study, we show that UHRF1 is highly expressed in retinoblastoma, and genomes of human primary retinoblastoma and cell lines have differential DNA methylation patterns compared with those of normal retina, characterized by lower global methylation and higher promoter methylation of tumor suppressors...
April 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28466045/first-report-of-detection-and-molecular-characterization-of-porcine-parvovirus-in-domestic-and-wild-pigs-in-kerala-india
#9
J Aishwarya, Chintu Ravishankar, R Rajasekhar, K Sumod, Nimisha Bhaskar, Shiju Shaji, Koshy John, M Mini
Porcine parvovirus (PPV) is a DNA virus of the genus Parvovirus of family Parvoviridae. It is the causative agent of many disease problems in pigs such as maternal reproductive failure, stillbirth, mummification, embryonic or fetal death, infertility, abortion and neonatal death. A study was conducted to assess the incidence of the virus in pigs in Kerala State in South India. A total of 38 samples were collected from domestic and wild pigs from different districts of the State. Polymerase chain reaction targeting a 265 bp fragment of the NS1 gene of the virus was carried out...
September 2016: Virusdisease
https://www.readbyqxmd.com/read/28460269/investigating-the-biocontrol-and-anti-biofilm-potential-of-a-three-phage-cocktail-against-cronobacter-sakazakii-in-different-brands-of-infant-formula
#10
Lorraine Endersen, Colin Buttimer, Eoghan Nevin, Aidan Coffey, Horst Neve, Hugo Oliveira, Rob Lavigne, Jim O'Mahony
In recent years, the microbiological safety of powdered infant formula has gained increasing attention due to the identification of contaminating C. sakazakii and its epidemiological link with life-threatening neonatal infections. Current intervention strategies have fallen short of ensuring the production of infant formula that is free from C. sakazakii. In this study, we describe the isolation and characterisation of three bacteriophages (phages) and their application as a phage cocktail to inhibit the growth of C...
April 21, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/28450240/correlation-of-fcgrt-genomic-structure-with-serum-immunoglobulin-albumin-and-farletuzumab-pharmacokinetics-in-patients-with-first-relapsed-ovarian-cancer
#11
Daniel J O'Shannessy, Katie Bendas, Charles Schweizer, Wenquan Wang, Earl Albone, Elizabeth B Somers, Susan Weil, Rhonda K Meredith, Jason Wustner, Luigi Grasso, Mark Landers, Nicholas C Nicolaides
Farletuzumab (FAR) is a humanized monoclonal antibody (mAb) that binds to folate receptor alpha. A Ph3 trial in ovarian cancer patients treated with carboplatin/taxane plus FAR or placebo did not meet the primary statistical endpoint. Subgroup analysis demonstrated that subjects with high FAR exposure levels (Cmin>57.6μg/mL) showed statistically significant improvements in PFS and OS. The neonatal Fc receptor (fcgrt) plays a central role in albumin/IgG stasis and mAb pharmacokinetics (PK). Here we evaluated fcgrt sequence and association of its promoter variable number tandem repeats (VNTR) and coding single nucleotide variants (SNV) with albumin/IgG levels and FAR PK in the Ph3 patients...
April 24, 2017: Genomics
https://www.readbyqxmd.com/read/28446235/differential-expression-of-cell-cycle-and-wnt-pathway-related-genes-accounts-for-differences-in-the-growth-and-differentiation-potential-of-wharton-s-jelly-and-bone-marrow-derived-mesenchymal-stem-cells
#12
Aristea K Batsali, Charalampos Pontikoglou, Dimitrios Koutroulakis, Konstantia I Pavlaki, Athina Damianaki, Irene Mavroudi, Kalliopi Alpantaki, Elisavet Kouvidi, George Kontakis, Helen A Papadaki
BACKGROUND: In view of the current interest in exploring the clinical use of mesenchymal stem cells (MSCs) from different sources, we performed a side-by-side comparison of the biological properties of MSCs isolated from the Wharton's jelly (WJ), the most abundant MSC source in umbilical cord, with bone marrow (BM)-MSCs, the most extensively studied MSC population. METHODS: MSCs were isolated and expanded from BM aspirates of hematologically healthy donors (n = 18) and from the WJ of full-term neonates (n = 18)...
April 26, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28428831/cord-blood-hematopoietic-cells-from-preterm-infants-display-altered-dna-methylation-patterns
#13
Olivia M de Goede, Pascal M Lavoie, Wendy P Robinson
BACKGROUND: Premature infants are highly vulnerable to infection. This is partly attributable to the preterm immune system, which differs from that of the term neonate in cell composition and function. Multiple studies have found differential DNA methylation (DNAm) between preterm and term infants' cord blood; however, interpretation of these studies is limited by the confounding factor of blood cell composition. This study evaluates the epigenetic impact of preterm birth in isolated hematopoietic cell populations, reducing the concern of cell composition differences...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28410545/lps-stimulation-of-cord-blood-reveals-a-newborn-specific-neutrophil-transcriptomic-response-and-cytokine-production
#14
Brittany Mathias, Juan C Mira, Jonathan P Rehfuss, Jaimar C Rincon, Ricardo Ungaro, Dina C Nacionales, M Cecilia Lopez, Henry V Baker, Lyle L Moldawer, Shawn D Larson
BACKGROUND: The neonatal innate immune system differs to microbial infection both quantitatively and qualitatively when compared with adults. Here, we provide the first genome-wide ex-vivo expression profile of umbilical cord blood (UCB) neutrophils from full-term infants prior to and in response to whole-blood lipopolysaccharide (LPS) stimulation. Additionally, we provide cytokine expression prior to and following LPS stimulation. The genomic expression and cytokine profile are compared with LPS-stimulated whole blood from healthy adult subjects (HC)...
May 2017: Shock
https://www.readbyqxmd.com/read/28407733/the-kr%C3%A3-ppel-like-factor-9-cistrome-in-mouse-hippocampal-neurons-reveals-predominant-transcriptional-repression-via-proximal-promoter-binding
#15
Joseph R Knoedler, Arasakumar Subramani, Robert J Denver
BACKGROUND: Krüppel-like factor 9 (Klf9) is a zinc finger transcription factor that functions in neural cell differentiation, but little is known about its genomic targets or mechanism of action in neurons. RESULTS: We used the mouse hippocampus-derived neuronal cell line HT22 to identify genes regulated by Klf9, and we validated our findings in mouse hippocampus. We engineered HT22 cells to express a Klf9 transgene under control of the tetracycline repressor, and used RNA sequencing to identify genes modulated by Klf9...
April 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28405742/crispr-cas9-mediated-deletion-of-lncrna-gm26878-in-the-distant-foxf1-enhancer-region
#16
Przemyslaw Szafranski, Justyna A Karolak, Denise Lanza, Marzena Gajęcka, Jason Heaney, Paweł Stankiewicz
Recent genome editing techniques, including CRISPR mutagenesis screens, offer unparalleled opportunities to study the regulatory non-coding genomic regions, enhancers, promoters, and functional non-coding RNAs. Heterozygous point mutations in FOXF1 and genomic deletion copy-number variants at chromosomal region 16q24.1 involving FOXF1 or its regulatory region mapping ~300 kb upstream of FOXF1 and leaving it intact have been identified in the vast majority of patients with a lethal neonatal lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)...
April 12, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28384714/organotypic-cultures-of-adult-mouse-retina-morphologic-changes-and-gene-expression
#17
Brigitte Müller, Franziska Wagner, Birgit Lorenz, Knut Stieger
Purpose: The purpose of this study was characterization of adult murine neuroretina in organ culture to investigate its suitability for use in preclinical therapeutic applications. In retinal disorders, neurodegeneration of mature retinal cells takes place. Therefore, neonatal retina cultures are not adequate for therapeutic applications, such as genome editing, as the retina is still developing with cells dividing and differentiating into highly specialized cell types such as photoreceptors...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28347852/first-report-of-human-parechovirus-type-3-infection-in-a-pregnant-woman
#18
Makiko Shinomoto, Tatsuya Kawasaki, Takuya Sugahara, Keiko Nakata, Tomoya Kotani, Hidetaka Yoshitake, Kento Yuasa, Masashi Saeki, Yasuhiro Fujiwara
Human parechovirus type 3 (HPeV3) can cause serious conditions in neonates, such as sepsis and encephalitis, but data for adults are lacking. The case of a pregnant woman with HPeV3 infection is reported herein. A 28-year-old woman at 36 weeks of pregnancy was admitted because of myalgia and muscle weakness. Her grip strength was 6.0kg for her right hand and 2.5kg for her left hand. The patient's symptoms, probably due to fasciitis and not myositis, improved gradually with conservative treatment, however labor pains with genital bleeding developed unexpectedly 3 days after admission...
March 24, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28345563/chlamydial-eye-infections-current-perspectives
#19
Gita Satpathy, Himanshu Sekhar Behera, Nishat Hussain Ahmed
Chlamydia trachomatis, an obligate intraocular bacteria causing trachoma, adult and neonatal inclusion conjunctivitis, was the leading cause of blindness in the last century worldwide. Improvement in socioeconomic and living conditions, availability of antibiotics, and introduction of National Trachoma Control Programmes reduced the prevalence in developed countries, but it persisted in resource-poor settings of Africa and Asia, including India. In 2016, as per the WHO report, trachoma is restricted to 42 countries, causing blindness/visual impairment in ~1...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28337265/pulmonary-surfactant-synthesis-in-mirna-26a-1-mirna-26a-2-double-knockout-mice-generated-using-the-crispr-cas9-system
#20
Ying-Hui Zhang, Li-Zhi Wu, Hong-Lu Liang, Yang Yang, Jie Qiu, Qing Kan, Wen Zhu, Cheng-Ling Ma, Xiao-Yu Zhou
Pulmonary surfactant (PS), which is synthesized by type II alveolar epithelial cells (AECIIs), maintains alveolar integrity by reducing surface tension. Many premature neonates who lack adequate PS are predisposed to developing respiratory distress syndrome (RDS), one of the leading causes of neonatal morbidity and mortality. PS synthesis is influenced and regulated by various factors, including microRNAs. Previous in vitro studies have shown that PS synthesis is regulated by miR-26a in fetal rat AECIIs. This study aimed to investigate the role of miR-26a in PS synthesis in vivo...
2017: American Journal of Translational Research
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