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Birth Defects Research. Part A, Clinical and Molecular Teratology

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https://www.readbyqxmd.com/read/28029220/exome-sequencing-provides-additional-evidence-for-the-involvement-of-arhgap29-in-mendelian-orofacial-clefting-and-extends-the-phenotypic-spectrum-to-isolated-cleft-palate
#1
Huan Liu, Tamara Busch, Steven Eliason, Deepti Anand, Steven Bullard, Lord J J Gowans, Nichole Nidey, Aline Petrin, Eno-Abasi Augustine-Akpan, Irfan Saadi, Martine Dunnwald, Salil A Lachke, Ying Zhu, Adebowale Adeyemo, Brad Amendt, Tony Roscioli, Robert Cornell, Jeffrey Murray, Azeez Butali
BACKGROUND: Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals of a multiplex family with cleft palate only. METHODS: The GEnome MINIng (GEMINI) pipeline was used to functionally annotate the single nucleotide polymorphisms, insertions and deletions...
December 28, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#2
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28008752/high-levels-of-iron-supplementation-prevents-neural-tube-defects-in-the-fpn1-ffe-mouse-model
#3
Bethany A Stokes, Julia A Sabatino, Irene E Zohn
BACKGROUND: Periconception maternal nutrition and folate in particular are important factors influencing the incidence of neural tube defects (NTDs). Many but not all NTDs are prevented by folic acid supplementation and there is a pressing need for additional strategies to prevent these birth defects. Other micronutrients such as iron are potential candidates, yet a clear role for iron deficiency in contributing to NTDs is lacking. Our previous studies with the flatiron (ffe) mouse model of Ferroportin1 (Fpn1) deficiency suggest that iron is required for neural tube closure and forebrain development raising the possibility that iron supplementation could prevent NTDs...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27933721/shared-molecular-networks-in-orofacial-and-neural-tube-development
#4
Youssef A Kousa, Tamer A Mansour, Haitham Seada, Samaneh Matoo, Brian C Schutte
BACKGROUND: Single genetic variants can affect multiple tissues during development. Thus it is possible that disruption of shared gene regulatory networks might underlie syndromic presentations. In this study, we explore this idea through examination of two critical developmental programs that control orofacial and neural tube development and identify shared regulatory factors and networks. Identification of these networks has the potential to yield additional candidate genes for poorly understood developmental disorders and assist in modeling and perhaps managing risk factors to prevent morbidly and mortality...
December 9, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27918138/association-of-essential-trace-metals-in-maternal-hair-with-the-risk-of-neural-tube-defects-in-offspring
#5
Lailai Yan, Bin Wang, Zhenjiang Li, Yaqiong Liu, Wenhua Huo, Jingyu Wang, Zhiwen Li, Aiguo Ren
BACKGROUND: The relationship between essential trace metals (ETMs) and the risk of neural tube defects (NTDs) is still unclear. One of the challenges is to evaluate the intake of ETMs of women during their early period of pregnancy. We proposed the hypothesis that an ETM deficiency in women during their early period of pregnancy is associated with an elevated risk of NTDs in offspring. METHODS: We recruited 191 women with NTD-affected pregnancies (case group) and 261 women who delivered healthy infants (control group)...
December 5, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905204/editorial-a-unified-birth-defects-research
#6
EDITORIAL
George P Daston, Rocky S Tuan, Michel Vekemans
No abstract text is available yet for this article.
December 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905191/race-and-ethnicity-and-preconception-folic-acid-supplement-use-among-pregnant-women-in-georgia-prams-2009-to-2011
#7
Ayesha Mukhtar, Michael R Kramer, Godfrey P Oakley, Vijaya Kancherla
BACKGROUND: The United States Public Health Service recommends that all women of reproductive age consume 400 μg of folic acid daily to prevent major neural tube defects. Hispanics have the highest prevalence of neural tube defects compared with other race/ethnic groups. We studied prevalence of preconception folic acid supplement use, and its association with race/ethnicity among pregnant women in Georgia. METHODS: Using state-wide population-based data from 2009 to 2011 Georgia Pregnancy Risk Assessment Monitoring System, we examined the prevalence of preconception folic acid supplement use among pregnant women aged 18 to 45 years...
December 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891739/acardiac-twin-pregnancies-part-iv-acardiac-onset-from-unequal-embryonic-splitting-simulated-by-a-fetoplacental-resistance-model
#8
Martin J C van Gemert, Jeroen P H M van den Wijngaard, K Marieke Paarlberg, Helena M Gardiner, Peter G J Nikkels
BACKGROUND: Benirschke postulated that acardiac twinning occurs when markedly unequal embryonic splitting combines with arterioarterial (AA) and venovenous placental anastomoses. We tested this hypothesis by model simulations and by comparison of outcomes with 18 "pseudo-" (twin fetus with beating heart but otherwise with clear signs of an acardiac) and 3 "normal" acardiac cases. METHODS: The smaller/larger cell volume ratio at embryonic splitting becomes the smaller/larger embryonic/fetal blood volume ratio (a)...
November 28, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27883265/genomic-approaches-to-the-assessment-of-human-spina-bifida-risk
#9
REVIEW
M Elizabeth Ross, Christopher E Mason, Richard H Finnell
Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions...
November 24, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27883261/prevention-of-neural-tube-defects-in-lrp-mutant-mouse-embryos-by-folic-acid-supplementation
#10
Julia A Sabatino, Bethany A Stokes, Irene E Zohn
BACKGROUND: Neural tube defects (NTDs) are among the most common structural birth defects in humans and are caused by the complex interaction of genetic and environmental factors. Periconceptional supplementation with folic acid can prevent NTDs in both mouse models and human populations. A better understanding of how genes and environmental factors interact is critical toward development of rational strategies to prevent NTDs. Low density lipoprotein-related protein 2 (Lrp2) is involved in endocytosis of the folic acid receptor among numerous other nutrients and ligands...
November 24, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27875031/prevalence-of-neural-tube-defects-in-a-rural-area-of-north-india-from-2001-to-2014-a-population-based-survey
#11
Shashi Kant, Sumit Malhotra, Arvind Kumar Singh, Partha Haldar, Ravneet Kaur, Puneet Misra, Neerja Gupta
BACKGROUND: Neural tube defects (NTDs) are one of the commonest birth defects. There was paucity of community-based data on occurrence of NTDs in India, especially from rural parts of the country. Against this background, the current study was carried out with main objectives to determine the prevalence of NTDs and its specific types (anencephaly, spina bifida and encephalocele) in a rural community setting over the time period 2001 to 2014. METHODS: This was a community-based cross-sectional study carried out in 28 villages of Ballabgarh Tehsil of Faridabad district in north India (population ∼ 96,000)...
November 22, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27875028/congenital-malformations-in-offspring-of-women-with-a-history-of-malignancy
#12
Zahra Sabeti Rad, Britt Friberg, Emir Henic, Lars Rylander, Olof Ståhl, Bengt Källén, Göran Lingman
BACKGROUND: Survival after malignancy has increased and the question of risks, including risk for congenital malformations for the offspring of these women has become important. Data on congenital malformations in such offspring are limited. METHODS: We compared congenital malformation in offspring, born 1994 to 2011 of women with a history of malignancy (at least 1 year before delivery) with all other offspring. Adjustment for confounders was mainly made by Mantel-Haenszel methodology...
November 22, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27860192/metabolite-profiling-of-whole-murine-embryos-reveals-metabolic-perturbations-associated-with-maternal-valproate-induced-neural-tube-closure-defects
#13
Darya Akimova, Bogdan J Wlodarczyk, Ying Lin, M Elizabeth Ross, Richard H Finnell, Qiuying Chen, Steven S Gross
BACKGROUND: Valproic acid (VPA) is prescribed therapeutically for multiple conditions, including epilepsy. When taken during pregnancy, VPA is teratogenic, increasing the risk of several birth and developmental defects including neural tube defects (NTDs). The mechanism by which VPA causes NTDs remains controversial and how VPA interacts with folic acid (FA), a vitamin commonly recommended for the prevention of NTDs, remains uncertain. We sought to address both questions by applying untargeted metabolite profiling analysis to neural tube closure (NTC) stage mouse embryos...
November 18, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27801979/preaxial-polydactyly-following-early-gestational-exposure-to-the-smoothened-agonist-sag-in-c57bl-6j-mice
#14
Eric W Fish, Scott E Parnell, Kathleen K Sulik, Lorinda K Baker, Laura B Murdaugh, David Lamson, Kevin P Williams
BACKGROUND: While pharmacological activation of the Hedgehog (HH) signaling pathway may have therapeutic benefits for developmental and adult diseases, its teratogenic potential is of concern. The membrane molecule Smoothened (SMO) transduces HH signaling and can be acutely modulated by antagonists and agonists. The objective of the current experiments was to determine how maternal treatment with the Smo agonist, SAG, affects the developing limb. METHODS: Pregnant C57BL/6J mice received a single injection of SAG (15, 17, or 20 mg/kg, i...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27801974/does-arsenic-increase-the-risk-of-neural-tube-defects-among-a-highly-exposed-population-a-new-case-control-study-in-bangladesh
#15
Maitreyi Mazumdar
BACKGROUND: Neural tube defects are debilitating birth defects that occur when the developing neural plate fails to close in early gestation. Arsenic induces neural tube defects in animal models, but whether environmental arsenic exposure increases risk of neural tube defects in humans is unknown. METHODS: We describe a new case-control study in Bangladesh, a country currently experiencing an epidemic of arsenic poisoning through contaminated drinking water. We plan to understand how arsenic influences risk of neural tube defects in humans through mechanisms that include disruption of maternal glucose and folate metabolism, as well as epigenetic effects...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27768247/associations-between-maternal-water-consumption-and-birth-defects-in-the-national-birth-defects-prevention-study-2000-2005
#16
Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27768235/genetic-backgrounds-and-modifier-genes-of-ntd-mouse-models-an-opportunity-for-greater-understanding-of-the-multifactorial-etiology-of-neural-tube-defects
#17
Renee Y M Leduc, Parmveer Singh, Heather E McDermid
Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the resulting neural tube defects (NTDs) that arise when neurulation is disrupted. Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28000437/corrigendum-for-levels-of-folate-receptor-autoantibodies-in-maternal-and-cord-blood-and-risk-of-neural-tube-defects-in-a-chinese-population-106-685-695-10-1002-bdra-23517
#18
Na Yang, Linlin Wang, Richard H Finnell, Zhiwen Li, Lei Jin, Le Zhang, Robert M Cabrera, Rongwei Ye, Aiguo Ren
No abstract text is available yet for this article.
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905192/response-to-dr-kirby
#19
LETTER
Gary M Shaw, Wei Yang, Suzan L Carmichael
No abstract text is available yet for this article.
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27900843/response-to-letter-to-the-editor-by-wise
#20
LETTER
Laetitia Laurent, Chunwei Huang, Sheila R Ernest, Anick Berard, Cathy Vaillancourt, Barbara F Hales
No abstract text is available yet for this article.
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
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