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2.192 Aktuelle Fachpublikationen zum Thema Addition

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Genome stability: What we have learned from cohesinopathies

19.04.2016 | Francesco Cucco, Antonio Musio, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2016

Cohesin is a multiprotein complex involved in many DNA‐related processes such as proper chromosome segregation, replication, transcription, and repair. Mutations in cohesin gene pathways are responsible for human diseases, collectively referred to as cohesinopathies. In addition, both cohesin ...


Discourse comprehension in autism spectrum disorder: Effects of working memory load and common ground

19.04.2016 | Jillian M. Schuh, Inge‐Marie Eigsti, Daniel Mirman, Autism Research, 2016

Pragmatic language impairments are nearly universal in autism spectrum disorders (ASD). Discourse requires that we monitor information that is shared or mutually known, called “common ground.” While many studies have examined the role of Theory of Mind (ToM) in such impairments, few have ...


A microscopy method for scanning transmission electron microscopy imaging of the antibacterial activity of polymeric nanoparticles on a biofilm with an ionic liquid

18.04.2016 | Chisato Takahashi, Shunsuke Muto, Hiromitsu Yamamoto, Journal of Biomedical Materials Research Part B: Applied Biomaterials, 2016

Abstract In this study, we developed a scanning transmission electron microscopy (STEM) method for imaging the antibacterial activity of organic polymeric nanoparticles (NPs) toward biofilms formed by Staphylococcus epidermidis bacterial cells, for optimizing NPs to treat biofilm infections. ...


Peroxide cross‐linked UHMWPE blended with vitamin E

15.04.2016 | Ebru Oral, Brinda N. Doshi, Rizwan M. Gul, Andrew L. Neils, Sanem Kayandan, Orhun K. Muratoglu, Journal of Biomedical Materials Research Part B: Applied Biomaterials, 2016

Abstract Radiation crosslinked ultrahigh molecular weight polyethylene (UHMWPE) is the bearing surface material most commonly used in total joint arthroplasty because of its excellent wear resistance. Crosslinking agents such as peroxides can also effectively increase wear resistance but ...


Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients

14.04.2016 | Hülya Kayserili, Umut Altunoglu, Gozde Yesil, Rasim Özgür Rosti, American Journal of Medical Genetics Part A, 2016

Pontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co‐occurrence of all four has not been previously described. We report on four patients, born to two ...


Accessing the molecular interactions of phthalates and their primary metabolites with the human pregnane X receptor using in silico profiling

13.04.2016 | M. K. Sarath Josh, S. Pradeep, Aparna K. Balan, M. N. Sreejith, Sailas Benjamin, Journal of Applied Toxicology, 2016

Abstract Phthalates are known to cause endocrine disruption in humans and animals. Being lipophilic xenobiotic chemicals, phthalates from the surrounding environments can easily be absorbed into the biological system, thereby causing various health dysfunctions. This molecular docking study ...


Genetic and epigenetic variation in the DNMT3B and MTHFR genes and colorectal adenoma risk

08.04.2016 | Vikki Ho, Janet E. Ashbury, Sherryl Taylor, Stephen Vanner, Will D. King, Environmental and Molecular Mutagenesis, 2016

Polymorphisms in DNMT3B and MTHFR have been implicated in cancer etiology; however, it is increasingly clear that gene‐specific DNA methylation also affects gene expression. A cross‐sectional study (N = 272) investigated the main and joint effects of polymorphisms and DNA methylation in DNMT3B ...


Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

07.04.2016 | Francesca Mattioli, Amelie Piton, Bénédicte Gérard, Andrea Superti‐Furga, Jean‐Louis Mandel, Sheila Unger, American Journal of Medical Genetics Part A, 2016

The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, ...


Analysis of arch‐like bones: The rodent mandible as a case study

05.04.2016 | Aldo Iván Vassallo, Journal of Morphology, 2016

ABSTRACT Bone strength is determined by the mechanical properties of bone material, and the size and shape of the whole bone, i.e., its architecture. The mandible of vertebrates has been traditionally regarded as a beam oriented in relation to main masticatory loads, i.e., the longer dimension ...


In vitro and in vivo genotoxicity assessment of the dopamine receptor antagonist molindone hydrochloride

04.04.2016 | Gopala Krishna, Gopa Gopalakrishnan, Saryu Goel, Environmental and Molecular Mutagenesis, 2016

Molindone hydrochloride is a dihydroindolone neuroleptic with dopamine D2 and D5 receptor antagonist activity. As an integral component of its preclinical safety evaluation, molindone hydrochloride was evaluated in a series of in vitro and in vivo genetic toxicology assays. In the bacterial ...


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