bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene
Authors: Delahaye Andrée , Khung‐Savatovsky Suonavy , Aboura Azzedine , Guimiot Fabien , Drunat Séverine , Alessandri Jean‐Luc , Gérard Marion , Bitoun Pierre , Boumendil Julien , Robin Stéphanie , Huel Chan , Guilherme Romain , Serero Stéphane , Gressens Pierre , Elion Jacques , Verloes Alain , Benzacken Brigitte , Delezoide Anne‐Lise , Pipiras Eva 
Published: August 2012

AbstractFOXC1 deletion, duplication, and mutations are associated with Axenfeld–Rieger anomaly, and Dandy–Walker malformation spectrum. We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing FOXC1. Various combinations of ocular and cerebellar malformations were found. In all three fetuses, necropsy including detailed microscopic assessments of the eyes and brains showed ocular anterior segment dysgenesis suggestive of Axenfeld–Rieger anomaly. Five 6p25 deletions were terminal, including two derived from inherited reciprocal translocations; the remaining 6p25 deletion was interstitial. The size and breakpoints of these deletions were characterized using comparative genomic hybridization arrays. All six deletions included FOXC1. Our data confirm that FOXC1 haploinsufficiency plays a major role in the phenotype of patients with 6p25 deletions. Histopathological features of Axenfeld–Rieger anomaly were clearly identifiable before the beginning of the third‐trimester of gestation. © 2012 Wiley Periodicals, Inc.
Maternal and infant gene–folate interactions and the risk of neural tube defects
Authors: Etheredge Analee J. , Finnell Richard H. , Carmichael Suzan L. , Lammer Edward J. , Zhu Huiping , Mitchell Laura E. , Shaw Gary M. 
Published: August 2012

AbstractNeural tube defects (NTDs) are common, serious malformations with a complex etiology that suggests involvement of both genetic and environmental factors. The authors evaluated maternal or offspring folate‐related gene variants and interactions between the gene variants and maternal intake of folates on the risk of NTDs in their offspring. A case–control study was conducted on mothers and/or their fetuses and infants who were born in California from 1999 to 2003 with an NTD (cases n = 222, including 24 mother–infant pairs) or without a major malformation (controls n = 454, including 186 mother–infant pairs). Maternal intake of folates was assessed by food frequency questionnaire and genotyping was performed on samples from mothers and infants. For mothers in the lowest folate‐intake group, risk of NTDs in offspring was significantly decreased for maternal MTHFR SNPs rs1476413, rs1801131, and rs1801133 (odds ratio [OR] = 0.55, 80% confidence interval [CI]: 0.20, 1.48; OR = 0.58, 80% CI: 0.24, 1.43; OR = 0.69, 80% CI: 0.41, 1.17, respectively), and TYMS SNPs rs502396 and rs699517 (OR = 0.91, 80% CI: 0.53, 1.56; OR = 0.70, 80% CI: 0.38, 1.29). A gene‐only effect was observed for maternal SHMT1 SNP rs669340 (OR = 0.69, 95% CI: 0.49, 0.96). When there was low maternal folate intake, risk of NTDs was significantly increased for infant MTHFD1 SNPs rs2236224, rs2236225, and rs11627387 (OR = 1.58, 80% CI: 0.99, 2.51; OR = 1.53, 80% CI: 0.95, 2.47; OR = 4.25, 80% CI: 2.33, 7.75, respectively) and SHMT1 SNP rs12939757 (OR = 2.01, 80% CI: 1.20, 3.37), but decreased for TYMS SNP rs2847153 (OR = 0.73, 80% CI: 0.37, 1.45). Although power to detect interaction effects was low for this birth defects association study, the gene–folate interactions observed in this study represent preliminary findings that will be useful for informing future studies on the complex etiology of NTDs. © 2012 Wiley Periodicals, Inc.
17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability
Authors: Coutton Charles , Devillard Francoise , Vieville Gaëlle , Amblard Florence , Lopez Gipsy , Jouk Pierre‐Simon , Satre Véronique 
Published: August 2012

AbstractMany deletions of chromosome 17p13.1 have been described, but very few 17p13.1 duplications have been reported yet. Here, we describe the genotype and phenotype of a boy with a duplication of this region. The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver–Russell syndrome (SRS) appearance with small triangular face, prominent forehead, micrognathia, low‐set ears, and clinodactyly. Array‐CGH revealed a 586 kb duplication containing many genes with a high neuronal expression. Interestingly, this region covers the minimal critical region including all candidate genes suggested to explain the 17p13.1 microdeletion syndrome. In the neighboring region 17p13.3, deletions and duplications of the same region are each responsible of a specific phenotype. Future case descriptions will show if a similar mechanism applies to the region 17p13.1. The 17p13.1 region contains interesting putative candidate genes that might be involved in the SRS etiology. Additional data are needed to verify the significance of this aberration. © 2012 Wiley Periodicals, Inc.
Analysis of selected maternal exposures and non‐syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005.
Authors: Patel Sonali S. , Burns Trudy L. , Botto Lorenzo D. , Riehle‐Colarusso Tiffany J. , Lin Angela E. , Shaw Gary M. , Romitti Paul A. ,   the National Birth Defects Prevention Study
Published: August 2012

AbstractAlthough the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non‐genetic risk factors have not been consistently identified. Using data (1997–2005) from the National Birth Defects Prevention Study, an ongoing multisite population‐based case–control study, the association between selected non‐genetic factors and non‐syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non‐smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1–2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0–2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs. © 2012 Wiley Periodicals, Inc.
De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype
Authors: Cirillo Emilia , Romano Rosa , Romano Alfonso , Giardino Giuliana , Durandy Anne , Nitsch Lucio , Genesio Rita , Di Gregorio Eleonora , Cavalieri Simona , Abate Giovanna , Del Vecchio Luigi , Brusco Alfredo , Pignata Claudio 
Published: August 2012

AbstractWe report on a child with a de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The deletion involved chromosome bands 13q12.3–13q14.11 and determined the loss of ≥50 genes. A second deletion on chromosome 12p11.3p11.22 of 43–167 kb, including about 12 genes, was unlikely of clinical relevance because inherited from the asymptomatic father. The child had developmental delay, dysmorphisms, and many features reminiscent of ataxia‐telangiectasia (A‐T), as cerebellar ataxia, oculocutaneus telangiectasia, and recurrent upper airway infections. Atraumatic fractures of the metatarsus were noted. Moreover, this is a rare case of 13q deletion syndrome associated with peripheral blood white cells radiosensitivity to bleomycin, reminiscent of what previously reported on X‐ray hypersensitivity of fibroblasts from patients with alterations of this chromosome. The immunological evaluation revealed increased IgM serum levels and a low proliferative response to mitogens, PHA, and CD3 cross‐linking (CD3 XL). After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age. © 2012 Wiley Periodicals, Inc.
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome
Authors: Peltekova Iskra T. , Macdonald Athen , Armour Christine M. 
Published: August 2012

AbstractThe rare 3p deletion syndrome presents with a spectrum of anomalies caused by deletions of variable lengths within the short arm of chromosome 3. While most of these deletions involve the 3p terminus, interstitial deletions may also give rise to features of the syndrome. We have detected an interstitial deletion of 643 kb in a patient who displayed many of the typical 3p deletion features. This patient had a number of findings in common with a previously reported patient, who had a 1.6 Mb interstitial deletion, including cognitive handicap, seizures, and congenital heart defects. A 518 kb region of overlap containing 12 genes may prove to be a critical region for some of these features. The putative functions of several genes, such as CRELD1, SRGAP3, CAMK1, TADA3, and MTMR14 are discussed with respect to their potential involvement in the 3p deletion syndrome phenotype. We suggest that this 518 kb area of overlap may define a critical region, which when deleted, can give rise to the 3p deletion syndrome phenotype. © 2012 Wiley Periodicals, Inc.
Immune‐mediated disorders among women carriers of fragile X premutation alleles
Authors: Winarni Tri Indah , Chonchaiya Weerasak , Sumekar Tanjung Ayu , Ashwood Paul , Morales Guadalupe Mendoza , Tassone Flora , Nguyen Danh V. , Faradz Sultana M.H. , Van de Water Judy , Cook Kylee , Hamlin Alyssa , Mu Yi , Hagerman Paul J. , Hagerman Randi J. 
Published: August 2012

AbstractThe relative risk of immune‐mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women (age 19–81 years; mean 46.35 and SD 12.60) and 72 controls (age 18–87 years; mean 52.40 and SD 15.40). One hundred fifty four (44.77%) women carrier had at least one IMD, as did 20 controls (27.78%). Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (IBS; 9.9%), Raynaud's phenomenon (7.6%), rheumatoid arthritis (RA; 3.8%), Sjögren syndrome (2.6%), systemic lupus erythematosus (SLE; 2.03%), multiple sclerosis (1.74%). Of 55 carriers age 40 or older with FXTAS, 72.73% had at least one IMD, compared to 46.54% of those without FXTAS (n = 159), and 31.58% of controls (n = 57). The estimated odds ratio (OR) for IMD is 2.6 (95% CI 1.2–5.6, P = 0.015) for women with FXTAS relative to those without FXTAS; the likelihood of IMD in carriers without or with FXTAS was also significantly higher than for controls (OR 2.1, 95% CI 1.1–4.2, P = 0.034; OR 5.5, 95% CI 2.4–12.5, P < 0.001, respectively). Similarly, the odds of having an IMD among carriers with FXPOI is about 2.4 times higher when compared to carriers without FXPOI (95% CI 1.1–5.0; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1–5.0; P = 0.021) compared to that of controls. © 2012 Wiley Periodicals, Inc.
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran
Authors: Babanejad Mojgan , Fattahi Zohreh , Bazazzadegan Niloofar , Nishimura Carla , Meyer Nicole , Nikzat Nooshin , Sohrabi Elahe , Najmabadi Amin , Jamali Peyman , Habibi Farkhonde , Smith Richard J.H. , Kahrizi Kimia , Najmabadi Hossein 
Published: August 2012

AbstractHearing loss is the most common sensory disorder worldwide and affects 1 of every 500 newborns. In developed countries, at least 50% of cases are genetic, most often resulting in nonsyndromic deafness (70%), which is usually autosomal recessive (∼80%). Although the cause of hearing loss is heterogeneous, mutations in GJB2 gene at DFNB1 locus are the major cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Our previous study showed that mutations of GJB2 gene do not contribute to the major genetic load of deafness in the Iranian population (∼16%). Therefore, to define the importance of other genes in contributing to an ARNSHL phenotype in the Iranian population, we used homozygosity mapping to identify regions of autozygosity‐by‐descent in 144 families which two or more progeny had ARNSHL but were negative for GJB2 gene mutations. Using flanking or intragenic short‐tandem repeat markers for 33 loci we identified 33 different homozygous variations in 10 genes, of which 9 are novel. In aggregate, these data explain ∼40% of genetic background of ARNHSL in the Iranian population. © 2012 Wiley Periodicals, Inc.
A novel mutation in the SHH long‐range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency
Authors: Al‐Qattan Mohammad M. , Al Abdulkareem Ibrahim , Al Haidan Yazied , Al Balwi Mohammed 
Published: August 2012

AbstractSonic Hedgehog (SHH) within the posteriorly located zone of polarizing activity is the main controller of the antero‐posterior axis of limb development. The ZRS (zone of polarizing activity regulatory sequence) is a long‐range limb‐specific SHH enhancer. Several point mutations in the ZRS have been described in humans. These mutations cause enhanced SHH activity and ectopic anterior expression of SHH and a variable phenotype of preaxial polydactyly and triphalangeal thumb. Absent thumb or radius has not been reported with ZRS mutations. Here, we report on a family with a variable phenotype of preaxial polydactyly as well as absent thumb and radius, with kidney and cardiac defects. The family was screened for SALL1, SALL4, and TBX5 mutations, but all were normal. Finally, they were screened for ZRS mutations, which showed a novel point mutation within the ZRS, NG_009240.1: g.106954C>T (traditional nomenclature: ZRS619C>T) in the five affected members. This mutation was not previously reported in any public domain database, and was not found in our healthy and ethnically matched control individuals or unaffected family members. We hypothesize that interactions of SHH and SALL1 explain the overlapping features of the family described here and patients with Townes–Brocks syndrome. © 2012 Wiley Periodicals, Inc.
Nanostructures and surface nanomechanical properties of polyacrylonitrile/graphene oxide composite nanofibers by electrospinning
Authors: Wang Qingqing , Du Yuanzhi , Feng Quan , Huang Fenglin , Lu Keyu , Liu Jingyan , Wei Qufu 
Published: August 2012

AbstractIn this work, polyacrylonitrile (PAN)/graphene oxide (GO) composite nanofibers were prepared by a facile compounding and electrospinning processes. A small amount of GO powders were first dispersed in N,N‐dimethylformamide by sonication, and then, PAN powders were added to prepare an electrospinning solution. The surface morphology was analyzed by atomic force microscopy and transmission electron microscopy, whereas the chemical properties of the PAN and PAN/GO composite nanofibers were compared by infrared (IR) spectroscopy. Also, lateral force microscopy and force–distance curves (FDC) were employed to investigate the surface properties, such as friction force and elasticity. The experimental results indicate that with increasing GO concentration, the surface friction force and adhesive force increased, so the nanofibers showed promise for applications as supports for enzyme immobilization. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Electrically conductive adhesive based on bismaleimide‐triazine resin filled with microcoiled carbon fibers
Authors: Wu Guanglei , Kou Kaichang , Li Ning , Shi Hailin , Chao Min 
Published: August 2012

AbstractElectrically conductive adhesive (ECA) was prepared with cyanate ester resin and bismaleimide resin formed bismaleimide‐triazine resin as the matrix, a γ‐glycidoxy propyl trimethoxy silane (KH‐560) as the coupling agent, and the carbon microcoils (CMCs) as the conducting filler. CMCs were synthesized by the catalytic decomposition of acetylene using nickel sulfide particles as the catalyst, which prepared by solvothermal method. The morphology and microstructure of CMCs were examined by scanning electron microscopy, Fourier transform infrared spectroscopy, and X‐ray diffraction. The electrical conductivity of the ECA increased to 3.16 × 10−2 S/cm. When the content of CMCs was 1.5 wt %, the shear strength between 25 and 200°C remained at a high value of 22.8 and 21.4 MPa, respectively. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Mechanical and morphological properties of waste Eurycoma longifolia fiber/montmorillonite reinforced poly(vinyl chloride) hybrid composites
Authors: Hamid Yasin , Bakar Aznizam Abu , Deirram Nayeleh 
Published: August 2012

AbstractHybrid composites are currently spearheading in polymer composites field with the promising ability in improving polymer properties. The influence of Eurycoma longifolia (EL)/montmorillonite (MMT) hybrid fillers loading on the mechanical properties of poly(vinyl chloride) (PVC) hybrid composites has been investigated. PVC resin and various additives were first dry‐blended using a laboratory blender before being milled into sheets using two‐roll mills at 165°C and hot pressed at 180°C and 120 kgm−2. The mechanical properties of PVC hybrid composites were determined using Izod impact, tensile, and flexural test. The incorporation of EL fiber into PVC matrix improved the flexural modulus, tensile modulus of PVC composites, whereas the tensile strength and impact strength decreased with increasing EL fiber content. The addition of MMT into EL‐filled PVC composites has significantly increased the flexural modulus, tensile modulus of PVC hybrid composite compared to PVC composites. However, MMT decreased the flexural strength and impact strength of PVC hybrid composites. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Synthesis of hybrid polyaniline/carbon nanotubes nanocomposites in toluene by dynamic interfacial inverse emulsion polymerization under sonication
Authors: Suckeveriene R. Y. , Mechrez G. , Filiba O. Hachamo , Mosheev S. , Narkis M. 
Published: August 2012

AbstractThis work describes an empirical study of in situ interfacial dynamic inverse emulsion polymerization process under sonication of aniline in the presence of nine different types of carbon nanotubes (CNT) in toluene. The polymerization method described in this work is simple and very fast (5 min) compared to the other literature reports (3–12 h). During polymerization, CNT are coated with polyaniline (PANI) forming a core‐shell structure of nanowires as evidenced by transmission electron microscopy (TEM) and high‐resolution scanning microscopy (HRSEM). HRSEM images and surface resistivity imply that PANI coating of CNT leads to a remarkable improvement in separation and dispersion of CNT in toluene, which otherwise would have rapidly coagulate and settle. Two of the nine different CNT studied have shown the lowest surface resistivities. Films of uniform thickness were successfully produced (HRSEM of cross‐sections). The effect of film thickness on conductivity and optical properties is reported in the work. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Durability of polylactide‐based polymer blends for injection‐molded applications
Authors: Harris Angela M. , Lee Ellen C. 
Published: August 2012

AbstractThe durability of polylactide (PLA) blended with polycarbonate (PC) was assessed by exposure to conditions of elevated temperature and humidity over a period of several weeks. Mechanical performance, moisture absorption, chemical composition, and thermal properties were monitored as a function of continuous conditioning at 70°C and 90% relative humidity (RH). All PLA and PC/PLA blends showed significant moisture absorption and hydrolysis, resulting in degradation of properties. Furthermore, while the addition of PC was intended to improve the durability of the blend over neat PLA, it was found that the hydrolysis products of PLA accelerated the degradation of PC itself. This study shows for the first time the hydrolysis behavior of PC/PLA blends in an increasingly acid environment during heat and humidity conditioning. These injection‐molding grades of PLA‐based resins are currently not suitable for use in applications that require long‐term durability in environments subject to elevated temperature and humidity, such as automotive interiors. Further material formulation work is required before use in injection‐molded applications for automotive. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Copolymerizing behavior and processability of benzoxazine/epoxy systems and their applications for glass fiber composite laminates
Authors: Xu Mingzhen , Yang Xulin , Zhao Rui , Liu Xiaobo 
Published: August 2012

AbstractCopolymerizing behavior and processability of epoxy/benzoxazine containing cyano groups (EP/BA‐ph) systems were investigated by differential scanning calorimetry and dynamic rheological analysis. The results showed that EP/BA‐ph systems exhibited two characteristic peaks corresponding to ring‐opening of benzoxazine and ring‐formation of cyano groups, respectively. Compared with BA‐ph, EP/BA‐ph copolymer processability was improved and can be controlled by varying EP contents, processing temperature, and time. Then EP/BA‐ph copolymers were employed to prepare EP/BA‐ph/glass fiber (GF) composite laminates and their mechanical, morphological, and thermal properties were investigated. Compared with those of BA‐ph/GF composites, the flexural strength, and modulus of EP/BA‐ph/GF composites with 50 wt % EP content were increased by 13.5 and 20%, respectively. The enhancements in mechanical properties are mainly due to the strong interfacial adhesions between GF and matrices, which was confirmed by SEM observations. All EP/BA‐ph/GF composite laminates are stable up to 510°C in air. EP/BA‐ph/GF laminates will have potential applications in the areas where require of excellent mechanical properties and high temperature resistance. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013