bluuebunny/crossref_metadata_2025_split huggingface dataset:
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
Authors: Kraoua Lilia , Journel Hubert , Bonnet Philippe , Amiel Jeanne , Pouvreau Nathalie , Baumann Clarisse , Verloes Alain , Cavé Hélène 
Published: August 2012

AbstractRecently, germline mutations of NRAS have been shown to be associated with Noonan syndrome (NS), a relatively common developmental disorder characterized by short stature, congenital heart disease, and distinctive facial features. We report on the mutational analysis of NRAS in a cohort of 125 French patients with NS and no known mutation for PTPN11, KRAS, SOS1, MEK1, MEK2, RAF1, BRAF, and SHOC2. The c.179G>A (p.G60E) mutation was identified in two patients with typical NS, confirming that NRAS germline mutations are a rare cause of this syndrome. We also screened our cohort of 95 patients with juvenile myelomonocytic leukemia (JMML). Among 17 patients with NRAS‐mutated JMML, none had clinical features suggestive of NS. None of the 11 JMML patients for which germline DNA was available had a constitutional NRAS mutation. © 2012 Wiley Periodicals, Inc.
Anthropometric measurements in Egyptian patients with osteogenesis imperfecta
Authors: Aglan Mona S. , Zaki Moushira E. , Hosny Laila , El‐Houssini Rasha , Oteify Ghada , Temtamy Samia A. 
Published: August 2012

AbstractOsteogenesis imperfecta (OI) is a heritable skeletal disorder with bone fragility and often short stature. This study provides anthropometric measurements in Egyptian children with OI and determine variability among OI types classified according to Sillence et al. [Sillence et al. (1979); J Med Genet 16:101–116]. The study included 124 patients with OI. All were subjected to full clinical and radiological examination. Accordingly they were classified into types OI‐I (N = 16), OI‐III (N = 86), and OI‐IV (N = 22) following Sillence classification. Five anthropometric measurements were taken for each patient including: length or standing height, weight, head circumference, arm span, and sitting height. Three indices were calculated: body mass index, relative head circumference, and relative arm span. Results show that mean height standard deviation scores (SDS) was significantly reduced in OI type III and IV compared to type I. Mean sitting height SDS was significantly reduced in OI‐III than that of OI‐I. Mean relative head circumference was significantly increased in OI‐III than that in OI‐I and OI‐IV. Using anthropometry, this study was able to quantitatively assess the body physique in the different Sillence types of OI and the variability among them. © 2012 Wiley Periodicals, Inc.
Achondroplasia‐hypochondroplasia complex and abnormal pulmonary anatomy
Authors: Bober Michael B. , Taylor Megan , Heinle Robert , Mackenzie William 
Published: August 2012

AbstractAchondroplasia and hypochondroplasia are two of the most common forms of skeletal dysplasia. They are both caused by activating mutations in FGFR3 and are inherited in an autosomal dominant manner. Our patient was born to parents with presumed achondroplasia, and found on prenatal testing to have p.G380R and p.N540K FGFR3 mutations. In addition to having typical problems associated with both achondroplasia and hypochondroplasia, our patient had several atypical findings including: abnormal lobulation of the lungs with respiratory insufficiency, C1 stenosis, and hypoglycemia following a Nissen fundoplication. After his reflux and aspiration were treated, the persistence of the tachypnea and increased respiratory effort indicated this was not the primary source of the respiratory distress. Our subsequent hypothesis was that primary restrictive lung disease was the cause of his respiratory distress. A closer examination of his chest circumference did not support this conclusion either. Following his death, an autopsy found the right lung had 2 lobes while the left lung had 3 lobes. A literature review demonstrates that other children with achondroplasia‐hypochondroplasia complex have been described with abnormal pulmonary function and infants with thanatophoric dysplasia have similar abnormal pulmonary anatomy. We hypothesize that there may be a primary pulmonary phenotype associated with FGFR3‐opathies, unrelated to chest size which leads to the consistent finding of increased respiratory signs and symptoms in these children. Further observation of respiratory status, combined with the macroscopic and microscopic analysis of pulmonary branching anatomy and alveolar structure in this patient population will be important to explore this hypothesis. © 2012 Wiley Periodicals, Inc.
Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?
Authors: Niemi Anna‐Kaisa , Kwan Andrea , Hudgins Louanne , Cherry Athena M. , Manning Melanie A. 
Published: August 2012

AbstractTo date, an interstitial deletion of 9p13 has been described only two times in the medical literature. These reports were based on routine chromosomal analysis. We report on two additional patients with an interstitial deletion of 9p13 further defined on array CGH who share clinical features with the other two patients previously described. Our first patient is a 16‐year‐old girl with a 5.9 Mb deletion at 9p13.3–9p13.1, initially detected on routine karyotype analysis and further characterized on array CGH. Our second patient is a 7½‐year‐old boy with a 4.8 Mb deletion also at 9p13.3–9p13.1. Patients with 9p13 deletion appear to have mild to moderate developmental delay, social and interactive personality, behavior issues such as attention deficit‐hyperactivity disorder, short stature, prominent antihelices, hypoplastic nails, and precocious/early puberty. Our 16‐year‐old patient is the oldest patient described thus far. This report further characterizes this condition and helps to delineate the long‐term prognosis in these patients. © 2012 Wiley Periodicals, Inc.
Phenotype in novel Xp duplication
Authors: Salaria Manju , Burgess Trent , Setyapranata Stella , Winship Ingrid 
Published: August 2012

AbstractA novel duplication of Xp is described. A 20‐year‐old man had minor anomalies ichthyosis, congenital heart defect, varicose veins, and hypogonadotropic hypogonadism. He had an interstitial duplication of approximately 2.8 Mb from chromosome region Xp22.31p22.2. His similarly affected brother and asymptomatic mother were shown to carry the same duplication. Knowledge about this duplication and its resultant phenotype will add to our understanding of the role of X chromosome duplications. © 2012 Wiley Periodicals, Inc.
CD44+ cells have cancer stem cell–like properties in nasopharyngeal carcinoma
Authors: Janisiewicz Agnieszka M. , Shin June Ho , Murillo‐Sauca Oihana , Kwok Shirley , Le Quynh‐Thu , Kong Christina , Kaplan Michael J. , Sunwoo John B. 
Published: August 2012

AbstractBackground:A subpopulation of cells within a tumor appears to have the exclusive ability to initiate tumors, self‐renew, and differentiate. These “cancer stem cells” (CSCs) are CD44+ in several epithelial malignancies. We examined the potential of CD44 to identify the CSC population in nasopharyngeal carcinoma (NPC).Methods:C666, an Epstein‐Barr virus–positive (EBV+) human NPC cell line, was stained for CD44 and sorted by fluorescence‐activated cell sorting (FACS). CD44+ and CD44− subpopulations were evaluated for (1) proliferative potential, (2) ability to differentiate, (3) expression of markers of epithelial‐to‐mesenchymal transition (EMT) and EBV genes, and (4) the ability to initiate tumors in vivo. Immunocompromised mice were injected with CD44+ and CD44− populations to assess the tumor‐initiating capacity. Immunohistochemistry for CD44 was performed on an 87‐patient tissue microarray (TMA), and clinical correlations were examined.Results:Heterogeneous expression of CD44 was seen among C666 cells. CD44+ cells differentiated into CD44− cells, indicating a hierarchical relationship. Further, CD44+ cells exhibited a more robust tumor‐initiating capacity in the xenograft model. However, no differences were seen in proliferation rates in vitro, EBV gene expression, or expression of EMT markers between CD44+ and CD44− subsets. Patient tumors were heterogeneous for CD44 staining, and a trend toward an association between CD44 expression and clinical outcome was observed.Conclusion:NPC contains a CD44+ subpopulation with features consistent with CSCs. There was a trend toward an association between CD44 expression within NPC tumors and decreased time to local failure/relapse in patients. © 2012 ARS–AAOA, LLC.
Neuropathy‐associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons
Authors: Persson Anna‐Karin , Liu Shujun , Faber Catharina G. , Merkies Ingemar S. J. , Black Joel A. , Waxman Stephen G. 
Published: August 2012

AbstractSmall‐fiber neuropathy (SFN) is characterized by injury to small‐diameter peripheral nerve axons and intraepidermal nerve fibers (IENF). Although mechanisms underlying loss of IENF in SFN are poorly understood, available data suggest that it results from axonal degeneration and reduced regenerative capacity. Gain‐of‐function variants in sodium channel NaV1.7 that increase firing frequency and spontaneous firing of dorsal root ganglion (DRG) neurons have recently been identified in ∼30% of patients with idiopathic SFN. In the present study, to determine whether these channel variants can impair axonal integrity, we developed an in vitro assay of DRG neurite length, and examined the effect of 3 SFN‐associated variant NaV1.7 channels, I228M, M932L/V991L (ML/VL), and I720K, on DRG neurites in vitro. At 3 days after culturing, DRG neurons transfected with I228M channels exhibited ∼20% reduced neurite length compared to wild‐type channels; DRG neurons transfected with ML/VL and I720K variants displayed a trend toward reduced neurite length. I228M‐induced reduction in neurite length was ameliorated by the use‐dependent sodium channel blocker carbamazepine and by a blocker of reverse Na‐Ca exchange. These in vitro observations provide evidence supporting a contribution of the I228M variant NaV1.7 channel to impaired regeneration and/or degeneration of sensory axons in idiopathic SFN, and suggest that enhanced sodium channel activity and reverse Na‐Ca exchange can contribute to a decrease in length of peripheral sensory axons. Ann Neurol 2012
Funktionalisierung von C‐H‐Bindungen: neue Synthesemethoden für Naturstoffe und Pharmazeutika
Authors: Yamaguchi Junichiro , Yamaguchi Atsushi D. , Itami Kenichiro 
Published: August 2012

AbstractDie direkte Funktionalisierung von C‐H‐Bindungen in organischen Molekülen hat sich in jüngster Zeit zu einer wirksamen und idealen Methode entwickelt, mit der Kohlenstoff‐Kohlenstoff‐ und Kohlenstoff‐Heteroatom‐Bindungen geknüpft werden können. Der Aufsatz gibt einen Überblick über die Strategien, die durch Funktionalisierung von C‐H‐Bindungen eine rasche Synthese von biologisch aktiven Verbindungen wie Naturstoffen und pharmazeutischen Zielsubstanzen ermöglichen.
Die phantastische Reise: Nanoroboter mit Eigenantrieb
Authors: Sengupta Samudra , Ibele Michael E. , Sen Ayusman 
Published: August 2012

AbstractNanoroboter, die scheinbar wundersame Aufgaben ausführen, kennen wir aus dem Reich der Science‐Fiction.1 Obwohl natürlich Vieles davon immer Fiktion bleiben wird, haben Wissenschaftler einige der physikalischen Herausforderungen, die mit dem Betrieb von Funktionseinheiten auf kleinster Skala einhergehen, überwunden und die erste Generation von autonomen energieautarken Nanomotoren und Nanopumpen entwickelt. Diese Motoren können durch chemische und Lichtgradienten gelenkt werden, Fracht aufnehmen und transportieren und kollektives Verhalten zeigen.
The Development of Better Photocatalysts through Composition‐ and Structure‐Engineering
Authors: Zhang Dieqing , Li Guisheng , Li Hexing , Lu Yunfeng 
Published: August 2012

AbstractSemiconductor photocatalysts that can effectively utilize solar irradiation hold great potential for harnessing renewable‐energy sources, as well as for environmental protection and ‐remediation. Exploring advanced photocatalysts that have improved performance has been a central theme in photocatalysis research. Herein, we review the recent developments in the design‐ and fabrication of photocatalysts with an emphasis on composition‐ and structural control over multiple length scales. This Focus Review will be of value for researchers in the area of photocatalysis, in particular, in the aspects of material design that lead to the synthesis of better photocatalysts.
Model‐based high‐throughput process development for chromatographic whey proteins separation
Authors: Nfor Beckley K. , Ripić Jovana , van der Padt Albert , Jacobs Marc , Ottens Marcel 
Published: August 2012

AbstractIn this study, an integrated approach involving the combined use of high‐throughput screening (HTS) and column modeling during process development was applied to an industrial case involving the evaluation of four anion‐exchange chromatography (AEX) resins and four hydrophobic interaction chromatography (HIC) resins for the separation of whey proteins having close pIs. From the HTS data, one resin of each type was selected (Capto Q and Octyl Sepharose 4 FF). Next, batch uptake experiments were performed to determine the adsorption isotherms of the major whey proteins on the selected resins, followed by isotherm parameters regression. Using the obtained isotherm parameters, the candidate chromatographic operations were modeled and experimentally validated. Finally, these were model‐optimized and evaluated based on their optimized performances. In this example, Capto Q performed much better than Octyl Sepharose 4 FF in terms of column capacity, loading, throughput and productivity; hence, Capto Q was selected as the resin of choice for whey proteins separation. This operation was further scaled up from the lab scale (1 mL) to a preparative scale (35 L), with reproducible column elution profile. By this approach, a much wider space of operating variables could be investigated, thereby increasing the chances of finding the ideal operating conditions while keeping experimentation to the minimum.
Glutamine (Q)‐peptide screening for transglutaminase reaction using mRNA display
Authors: Lee Jae‐Hun , Song Changhyeon , Kim Do‐Hyun , Park Il‐Hyang , Lee Sun‐Gu , Lee Yoon‐Sik , Kim Byung‐Gee 
Published: August 2012

AbstractInformation on subsite specificity of the transglutaminase (TG) is important to design any specific peptides for TG's applications and inhibitor studies. Here, mRNA display was introduced for identifying the subsite specificity of TG from Streptomyces mobaraensis (STG). Functionally active peptides expressed from mRNA display library were differentially conjugated to hexa lysine (K6)—beads according to their relative activities for STG. The active peptide substrates for STG were enriched through six rounds of screening, and its corresponding cDNA/mRNA sequences were identified by DNA sequencing. The results showed that tripeptides such as LQQ and TQP do not show any activity for STG, but the minimum size of the peptide displaying STG activity is pentapeptide. One such predicted peptide sequence, that is, RLQQP (TQ1), showed higher reactivity (ca. 182% conjugation yield) to STG than that of the highly active sequence, that is, control‐Q (PQPQLPYPQPQLPY), well‐known previously for mammalian TG2. Furthermore, when recombinant DsRed was tagged with TQ1 sequence at its C‐terminal, DsRed‐TQ1 underwent efficient covalent‐immobilization onto alginate–gelatin bead by STG reaction, showing a Q‐peptide application as a useful tagging molecule. Biotechnol. Bioeng. 2013; 110: 353–362. © 2012 Wiley Periodicals, Inc.
Engineered catalytic biofilms for continuous large scale production of n‐octanol and (S)‐styrene oxide
Authors: Gross Rainer , Buehler Katja , Schmid Andreas 
Published: August 2012

AbstractThis study evaluates the technical feasibility of biofilm‐based biotransformations at an industrial scale by theoretically designing a process employing membrane fiber modules as being used in the chemical industry and compares the respective process parameters to classical stirred‐tank studies. To our knowledge, catalytic biofilm processes for fine chemicals production have so far not been reported on a technical scale. As model reactions, we applied the previously studied asymmetric styrene epoxidation employing Pseudomonas sp. strain VLB120ΔC biofilms and the here‐described selective alkane hydroxylation. Using the non‐heme iron containing alkane hydroxylase system (AlkBGT) from P. putida Gpo1 in the recombinant P. putida PpS81 pBT10 biofilm, we were able to continuously produce 1‐octanol from octane with a maximal productivity of 1.3 g L day−1 in a single tube micro reactor. For a possible industrial application, a cylindrical membrane fiber module packed with 84,000 polypropylene fibers is proposed. Based on the here presented calculations, 59 membrane fiber modules (of 0.9 m diameter and 2 m length) would be feasible to realize a production process of 1,000 tons/year for styrene oxide. Moreover, the product yield on carbon can at least be doubled and over 400‐fold less biomass waste would be generated compared to classical stirred‐tank reactor processes. For the octanol process, instead, further intensification in biological activity and/or surface membrane enlargement is required to reach production scale. By taking into consideration challenges such as biomass growth control and maintaining a constant biological activity, this study shows that a biofilm process at an industrial scale for the production of fine chemicals is a sustainable alternative in terms of product yield and biomass waste production. Biotechnol. Bioeng. 2013; 110: 424–436. © 2012 Wiley Periodicals, Inc.
Combined treatment of Pseudomonas aeruginosa biofilms with bacteriophages and chlorine
Authors: Zhang Yanyan , Hu Zhiqiang 
Published: August 2012

AbstractBacterial biofilms are a growing concern in a broad range of areas. In this study, a mixture of RNA bacteriophages isolated from municipal wastewater was used to control and remove biofilms. At the concentrations of 400 and 4 × 107 PFU/mL, the phages inhibited Pseudomonas aeruginosa biofilm formation by 45 ± 15% and 73 ± 8%, respectively. At the concentrations of 6,000 and 6 × 107 PFU/mL, the phages removed 45 ± 9% and 75 ± 5% of pre‐existing P. aeruginosa biofilms, respectively. Chlorine reduced biofilm growth by 86 ± 3% at the concentration of 210 mg/L, but it did not remove pre‐existing biofilms. However, a combination of phages (3 × 107 PFU/mL) and chlorine at this concentration reduced biofilm growth by 94 ± 2% and removed 88 ± 6% of existing biofilms. In a continuous flow system with continued biofilm growth, a combination of phages (a one‐time treatment at the concentration of 1.9 × 108 PFU/mL for 1 h first) with chlorine removed 97 ± 1% of biofilms after Day 5 while phage and chlorine treatment alone removed 89 ± 1% and 40 ± 5%, respectively. For existing biofilms, a combined use of a lower phage concentration (3.8 × 105 PFU/mL) and chlorination with a shorter time duration (12 h) followed by continuous water flushing removed 96 ± 1% of biofilms in less than 2 days. Laser scanning confocal microscopy supplemented with electron microscopy indicated that the combination treatment resulted in biofilms with lowest cell density and viability. These results suggest that the combination treatment of phages and chlorine is a promising method to control and remove bacterial biofilms from various surfaces. Biotechnol. Bioeng. 2013; 110: 286–295. © 2012 Wiley Periodicals, Inc.
Improvement of Photorhabdus temperata bioinsecticides production in low‐cost media through adequate fermentation technology
Authors: Jallouli Wafa , Jaoua Samir , Zouari Nabil 
Published: August 2012

AbstractTo develop a cost effective process for bioinsecticides production by Photorhabdus temperata, dissolved oxygen (DO) requirements were investigated in both the complex and the optimized media using diluted seawater as a source of micronutrients. By varying DO concentrations, tolerance to hydrogen peroxide was shown to be medium dependant. Indeed, P. temperata cells grown in the complex medium, exhibited higher tolerance than cells grown in the optimized medium (OM). Tolerance to H2O2 was shown to be related to intracellular reactive oxygen species (ROS) accumulation during soya bean meal or glucose assimilation, as shown by flow cytometry analysis. To avoid oxidative stress damages in P. temperata cells cultured in the OM, DO concentration should be constant 50% saturation throughout the fermentation. However, a DO‐shift control strategy was demonstrated to be beneficial for P. temperata bioinsecticide production in the complex medium. By using such a strategy biomass, culturability, and oral toxicity reached 16.5 × 108, 1.15 × 108 cells/mL and 64.2%, respectively, thus was 16.19, 26.37, and 12.2% more than in the cultures carried out at a constant 50% saturation. © 2012 American Institute of Chemical Engineers Biotechnol. Prog., 2012
Recycling CO2? Computational Considerations of the Activation of CO2 with Homogeneous Transition Metal Catalysts
Authors: Drees Markus , Cokoja Mirza , Kühn Fritz E. 
Published: August 2012

AbstractFaced with depleting fossil carbon sources, the search for alternative energy carriers and energy storage possibilities has become an important issue. Nature utilizes carbon dioxide as starting material for storing sun energy in plant hydrocarbons. A similar approach, storing energy from renewable sources in chemical bonds with CO2 as starting material, may lead to partial recycling of CO2 created by human industrial activities. Unfortunately, currently available routes for the transformation of CO2 involve high temperatures and are often not selective. With the development of more sophisticated methods and better software, theoretical studies have become both increasingly widespread and useful. This concept article summarizes theoretical investigations of the current state of the feasibility of CO2 activation with molecular transition metal catalysts, highlighting the most promising reactions of CO2 with olefins to industrially relevant acrylic acid/acrylates, and the insertion of CO2 into metal–element bonds, particularly for the synthesis of cyclic carbonates and polymers. Rapidly improving computational power and methods help to increase the importance and accuracy of calculations continuously and make computational chemistry a useful tool helping to solve some of the most important questions for the future.