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Neonatal genomics

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https://www.readbyqxmd.com/read/29048742/permanent-neonatal-diabetes-caused-by-abnormalities%C3%A2-in%C3%A2-chromosome%C3%A2-6q24
#1
B Y Cao, C X Gong, D Wu, X Q Li
BACKGROUND: Methylation defects at chromosome 6q24 usually induce transient neonatal diabetes mellitus. There are few reports of permanent neonatal diabetes mellitus caused by abnormalities of 6q24. We report the first case of permanent neonatal diabetes mellitus to be associated with confirmed methylation defects at chromosome 6q24. CASE REPORT: A baby girl, small for her gestational age, was found to have high blood glucose 1 day after birth, with no systematic congenital anomalies...
October 19, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29044436/preterm-infant-associated-clostridium-tertium-clostridium-cadaveris-and-clostridium-paraputrificum-strains-genomic-and-evolutionary-insights
#2
Raymond Kiu, Shabhonam Caim, Cristina Alcon-Giner, Gusztav Belteki, Paul Clarke, Derek Pickard, Gordon Dougan, Lindsay J Hall
Clostridium species (particularly Clostridium difficile, Clostridium botulinum, Clostridium tetani and Clostridium perfringens) are associated with a range of human and animal diseases. Several other species including Clostridium tertium, Clostridium cadaveris, and Clostridium paraputrificum have also been linked with sporadic human infections, however there is very limited, or in some cases, no genomic information publicly available. Thus, we isolated one C. tertium strain, one C. cadaveris strain and three C...
October 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29036432/copb2-is-essential-for-embryogenesis-and-hypomorphic-mutations-cause-human-microcephaly
#3
Andrew DiStasio, Ashley Driver, Kristen Sund, Milene Donlin, Ranjith M Muraleedharan, Shabnam Pooya, Beth Kline-Fath, Kenneth M Kaufman, Cynthia A Prows, Elizabeth Schorry, Biplab DasGupta, Rolf W Stottmann
Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in an otherwise unaffected family. Exome sequencing identified an autosomal recessive mutation leading to an amino acid substitution in a WD40 domain of the highly conserved Coatomer Protein Complex, Subunit Beta 2 (COPB2)...
September 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29033918/dna-sequence-based-typing-of-the-cronobacter-genus-using-mlst-crispr-cas-array-and-capsular-profiling
#4
Pauline Ogrodzki, Stephen J Forsythe
The Cronobacter genus is composed of seven species, within which a number of pathovars have been described. The most notable infections by Cronobacter spp. are of infants through the consumption of contaminated infant formula. The description of the genus has greatly improved in recent years through DNA sequencing techniques, and this has led to a robust means of identification. However some species are highly clonal and this limits the ability to discriminate between unrelated strains by some methods of genotyping...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29021957/whole-genome-shotgun-sequencing-of-indian-strains-of-streptococcus-agalactiae
#5
Balaji Veeraraghavan, Naveen Kumar Devanga Ragupathi, Sridhar Santhanam, Valsan Philip Verghese, Francis Yesurajan Inbanathan, Charles Livingston
Group B streptococcus is known as a leading cause of neonatal infections in developing countries. The present study describes the whole genome shotgun sequences of four Group B Streptococcus (GBS) isolates. Molecular data on clonality is lacking for GBS in India. The present genome report will add important information on the scarce genome data of GBS and will help in deriving comparative genome studies of GBS isolates at global level. This Whole Genome Shotgun project has been deposited at DDBJ/ENA/GenBank under the accession numbers NHPL00000000 - NHPO00000000...
December 2017: Genomics Data
https://www.readbyqxmd.com/read/29020614/gene-editing-in-rat-embryonic-stem-cells-to-produce-in%C3%A2-vitro-models-and-in%C3%A2-vivo-reporters
#6
Yaoyao Chen, Sonia Spitzer, Sylvia Agathou, Ragnhildur Thora Karadottir, Austin Smith
Rat embryonic stem cells (ESCs) offer the potential for sophisticated genome engineering in this valuable biomedical model species. However, germline transmission has been rare following conventional homologous recombination and clonal selection. Here, we used the CRISPR/Cas9 system to target genomic mutations and insertions. We first evaluated utility for directed mutagenesis and recovered clones with biallelic deletions in Lef1. Mutant cells exhibited reduced sensitivity to glycogen synthase kinase 3 inhibition during self-renewal...
October 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28993767/genomic-programming-of-human-neonatal-dendritic-cells-in-congenital-systemic-and-in-vitro-cytomegalovirus-infection-reveal-plastic-and-robust-immune-pathway-biology-responses
#7
Widad Dantoft, Pablo Martínez-Vicente, James Jafali, Lara Pérez-Martínez, Kim Martin, Konstantinos Kotzamanis, Marie Craigon, Manfred Auer, Neil T Young, Paul Walsh, Arnaud Marchant, Ana Angulo, Thorsten Forster, Peter Ghazal
Neonates and especially premature infants are highly susceptible to infection but still can have a remarkable resilience that is poorly understood. The view that neonates have an incomplete or deficient immune system is changing. Human neonatal studies are challenging, and elucidating host protective responses and underlying cognate pathway biology, in the context of viral infection in early life, remains to be fully explored. In both resource rich and poor settings, human cytomegalovirus (HCMV) is the most common cause of congenital infection...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28993175/research-to-knowledge-promoting-the-training%C3%A2-of-physician-scientists-in-the-biology%C3%A2-of%C3%A2-pregnancy
#8
Yoel Sadovky, Aaron B Caughey, Michelle DiVito, Mary E D'Alton, Amy P Murtha
Common disorders of pregnancy, such as preeclampsia, preterm birth, and fetal growth abnormalities, continue to challenge perinatal biologists seeking insights into disease pathogenesis that will result in better diagnosis, therapy, and disease prevention. These challenges have recently been intensified with discoveries that associate gestational diseases with long-term maternal and neonatal outcomes. Whereas modern high-throughput investigative tools enable scientists and clinicians to noninvasively probe the maternal-fetal genome, epigenome, and other analytes, their implications for clinical medicine remain uncertain...
October 7, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28989068/transcriptome-and-toxin-family-analysis-of-the-paralysis-tick-ixodes-holocyclus
#9
Manuel Rodriguez-Valle, Paula Moolhuijzen, Roberto A Barrero, Chian Teng Ong, Greta Busch, Thomas Karbanowicz, Mitchell Booth, Richard Clark, Johannes Koehbach, Hina Ijaz, Kevin Broady, Kim Agnew, Aleta G Knowles, Matthew I Bellgard, Ala E Tabor
The Australian paralysis tick (Ixodes holocyclus) secretes neuropathic toxins into saliva that induce host paralysis. Salivary glands and viscera were dissected from fully engorged female I. holocyclus ticks collected from dogs and cats with paralysis symptoms. cDNA from both tissue samples were sequenced using Illumina HiSeq 100 bp pair end read technologies. Unique and non-redundant holocyclotoxin sequences were designated as HT2-HT19, as none were identical to the previously described HT1. Specific binding to rat synaptosomes was determined for synthetic HTs, and their neurotoxic capacity was determined by neonatal mouse assay...
October 6, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28985358/identification-of-plagl1-zac1-binding-sites-and-target-genes-establishes-its-role-in-the-regulation-of-extracellular-matrix-genes-and-the-imprinted-gene-network
#10
Annie Varrault, Christelle Dantec, Anne Le Digarcher, Laëtitia Chotard, Benoit Bilanges, Hugues Parrinello, Emeric Dubois, Stéphanie Rialle, Dany Severac, Tristan Bouschet, Laurent Journot
PLAGL1/ZAC1 undergoes parental genomic imprinting, is paternally expressed, and is a member of the imprinted gene network (IGN). It encodes a zinc finger transcription factor with anti-proliferative activity and is a candidate tumor suppressor gene on 6q24 whose expression is frequently lost in various neoplasms. Conversely, gain of PLAGL1 function is responsible for transient neonatal diabetes mellitus, a rare genetic disease that results from defective pancreas development. In the present work, we showed that Plagl1 up-regulation was not associated with DNA damage-induced cell cycle arrest...
July 29, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28981937/-application-of-chromosomal-microarray-analysis-for-fetuses-with-ventricular-septal-defects
#11
Qiong Deng, Fang Fu, Ru Li, Xiangyi Jing, Tingying Lei, Xin Yang, Min Pan, Li Zhen, Jin Han, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with ventricular septal defects (VSD) using chromosomal microarray analysis (CMA). METHODS: A total of 248 fetuses were divided into isolated VSD group, VSD with other cardiac and/or great vessels malformation group, VSD with extra-cardiac anomalies group (including malformation and sonographic soft markers), and VSD with both cardiac and extra-cardiac anomalies group. Standard karyotyping was carried out for all fetuses, and CMA was performed for 6 fetuses with an abnormal karyotype and a proportion of fetuses with a normal karyotype...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981931/-mutational-analysis-of-ass1-asl-and-slc25a13-genes-in-six-chinese-patients-with-citrullinemia
#12
Yiming Lin, Ke Yu, Lufeng Li, Zhenzhu Zheng, Weihua Lin, Qingliu Fu
OBJECTIVE: To detect potential mutations in six patients with citrullinemia. METHODS: Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing. RESULTS: One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28977303/from-expanded-neonatal-screening-to-the-post-genomic-era
#13
EDITORIAL
José Simon Camelo
No abstract text is available yet for this article.
July 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28975769/detection-and-genome-sequencing-of-porcine-circovirus-3-in-neonatal-pigs-with-congenital-tremors-in-south-china
#14
G H Chen, K J Mai, L Zhou, R T Wu, X Y Tang, J L Wu, L L He, T Lan, Q M Xie, Y Sun, J Y Ma
Porcine circovirus 3 (PCV3) is a novel circovirus first discovered in the United States in piglets and sows with porcine dermatitis and nephropathy syndrome, reproductive failure, cardiac and multisystemic inflammation. Here, seven PCV3 strains were identified for the first time from neonatal pigs with clinical signs of congenital tremors (CT) in South China. The tissue tropism of PCV3 in CT-affected piglets was analysed by the real-time quantitative PCR, and the result showed that high loads of viral genomes were detected in the brains and hearts...
October 3, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28974782/nkx2-5-%C3%A2-cardiomyoblasts-contribute-to-cardiomyogenesis-in-the-neonatal-heart
#15
Vahid Serpooshan, Yuan-Hung Liu, Jan W Buikema, Francisco X Galdos, Orlando Chirikian, Sharon Paige, Sneha Venkatraman, Anusha Kumar, David R Rawnsley, Xiaojing Huang, Daniël A Pijnappels, Sean M Wu
During normal lifespan, the mammalian heart undergoes limited renewal of cardiomyocytes. While the exact mechanism for this renewal remains unclear, two possibilities have been proposed: differentiated myocyte replication and progenitor/immature cell differentiation. This study aimed to characterize a population of cardiomyocyte precursors in the neonatal heart and to determine their requirement for cardiac development. By tracking the expression of an embryonic Nkx2.5 cardiac enhancer, we identified cardiomyoblasts capable of differentiation into striated cardiomyocytes in vitro...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28973083/use-of-exome-sequencing-for-infants-in-intensive-care-units-ascertainment-of-severe-single-gene-disorders-and-effect-on-medical-management
#16
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu, Patricia Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari J Tokita, Teresa Santiago-Sim, Hongzheng Dai, Theodore Chiang, Hadley Smith, Mahshid S Azamian, Laurie Robak, Bret L Bostwick, Christian P Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A Bacino, Neil A Hanchard, Michael F Wangler, Daryl Scott, Chester Brown, Jianhong Hu, John W Belmont, Lindsay C Burrage, Brett H Graham, Vernon Reid Sutton, William J Craigen, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Donna M Muzny, Marcus J Miller, Xia Wang, Magalie S Leduc, Rui Xiao, Pengfei Liu, Chad Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M Eng, Yaping Yang, Seema R Lalani
Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within the first 100 days of life who were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period between December 2011 and January 2017...
October 2, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28956377/-advances-in-reverse-genetics-to-treat-porcine-epidemic-diarrhea-virus
#17
Ruisong Yu, Shijuan Dong, Fusheng Si, Fengying Jiang, Chunfang Xie, Bingqing Chen, Li Yu, Zhen Li
Porcine epidemic diarrhea virus (PEDV) is one of the major etiologies responsible for the acute, highly contagious disease in the digestive tract of pigs, especially neonatal piglets. Since PEDV was first identified in Europe in the late 1970s, it has resulted in significant economic losses in many Asian swine-raising countries, including China. Recently, reverse genetics techniques including targeted RNA recombination, bacteria artificial chromosome system and in vitro ligation have been successfully used to manipulate the genome of PEDV, which providing new strategies for the clear delineation of the functions of the viral proteins, the mechanisms behind PEDV pathogenesis and the design of novel vaccines against PEDV...
February 25, 2017: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
https://www.readbyqxmd.com/read/28950778/first-report-of-a-novel-deletion-due-to-%C3%AE%C2%B5%C3%AE-%C3%AE-%C3%AE-thalassemia-in-a-chinese-family
#18
Annie S Y Hui, Patrick K C Au, Yuen-Ha Ting, Anita S Y Kan, Yvonne K Y Cheng, Alex W K Leung, Kelvin Y K Chan, Chi-Kong Li, Mary H Y Tang, Tak-Yeung Leung
A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed a single copy loss of 189.87 kb in chromosome 11p15.4, involving the whole β-globin gene cluster, inherited from the father...
May 2017: Hemoglobin
https://www.readbyqxmd.com/read/28947871/hfprm-hierarchical-functional-principal-regression-model-for-diffusion-tensor-image-bundle-statistics
#19
Jingwen Zhang, Chao Huang, Joseph G Ibrahim, Shaili Jha, Rebecca C Knickmeyer, John H Gilmore, Martin Styner, Hongtu Zhu
Diffusion-weighted magnetic resonance imaging (MRI) provides a unique approach to understand the geometric structure of brain fiber bundles and to delineate the diffusion properties across subjects and time. It can be used to identify structural connectivity abnormalities and helps to diagnose brain-related disorders. The aim of this paper is to develop a novel, robust, and efficient dimensional reduction and regression framework, called hierarchical functional principal regression model (HFPRM), to effectively correlate high-dimensional fiber bundle statistics with a set of predictors of interest, such as age, diagnosis status, and genetic markers...
June 2017: Information Processing in Medical Imaging: Proceedings of the ... Conference
https://www.readbyqxmd.com/read/28942795/genetics-of-mitochondrial-disease
#20
Russell P Saneto
Mitochondria are intracellular organelles responsible for adenosine triphosphate production. The strict control of intracellular energy needs require proper mitochondrial functioning. The mitochondria are under dual controls of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Mitochondrial dysfunction can arise from changes in either mtDNA or nDNA genes regulating function. There are an estimated ∼1500 proteins in the mitoproteome, whereas the mtDNA genome has 37 proteins. There are, to date, ∼275 genes shown to give rise to disease...
2017: Advances in Genetics
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