Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Phosphoproteomics Profiling Suggests a Role for Nuclear beta IPKC in Transcription Processes of Undifferentiated Murine Embryonic Stem Cells

Protein kinase C (PKC) plays a key role in embryonic stem cell (ESC) proliferation, self-renewal and differentiation However, the function of specific PKC Isoenzymes have yet to be determined Of the PKCs expressed in undifferentiated ESCs, beta IPKC was the only isoenzyme abundantly expressed in the nuclei To investigate the role of beta IPKC in these cells, we employed a phosphoproteomics strategy and used two classical (cPKC) peptide modulators and one beta IPKC-specific inhibitor peptide We identified 13 nuclear proteins that are direct or indirect beta IPKC substrates in undifferentiated ESCs These proteins are known to be involved in regulating transcription, splicing, and chromatin remodeling during proliferation and differentiation Inhibiting beta IPKC had no effect on DNA synthesis in undifferentiated ESCs However, upon differentiation many cells seized to express beta IPKC and beta IPKC was frequently found in the cytoplasm Taken together, our results suggest that beta IPKC takes part in the processes that maintain ESCs in their undifferentiated state

Effect of Lithium Nitrate on the Alkali-Silica Reaction Gel

Lithium nitrate has been used to prevent and to mediate the expansion caused by alkali-silica reaction (ASR). However, there is limited information on how it affects the existing reaction products caused by ASR. The aim of the present work is to determine the modifications caused by the LiNO3 treatment on the structure of the gel produced by ASR. ASR gel samples obtained from a concrete dam were exposed to an aqueous solution of lithium nitrate and sodium hydroxide with molar LiNO3/NaOH = 0.74, and the resulting products were analyzed by X-ray diffraction, infrared spectroscopy, and solid-state nuclear magnetic resonance of Si-29, Na-23, and Li-7. The treatment of the gel samples produces significant structural modifications in ASR products. A new amorphous silicate compound incorporating Li+ ions is formed, with an average silicate network that can be described as linear in contrast with the layered structure of the original gel. This elimination of the layered structure after the Li-based treatments may be related to the reduction of the tendency of the gel to expand. Also, several crystalline compounds containing potassium indicate the release of this species from the original ASR gel.

Under flow impedimetric measurements using magnetic particles for label-free detection affinity target

The necessity to adapt sensors based on electrochemical techniques for high throughput analysis control increases the interest to develop new analytical systems able to perform measurements under buffer now. In this report we explored the possibility of employing a new system to make impedimetric measurements to detect the interaction between proteins and small molecules. The well-known biotin-streptavidin interaction was adopted to evaluate the proposed assembly. This system allows us to perform experiments under flow. Magnetic beads functionalized with streptavidin were used and first characterized using AFM and FTIR. Non-faradic impedance spectroscopy allowed the detection of the biotin-streptavidin interaction. Using our new system and under a flow of PBS buffer, 5 10-5 M of biotin was detected with a stable signal. (c) 2007 Elsevier B.V. All rights reserved.

What Bronx Community College Students Can Do!

The dominant discourse in faculty spaces with respect to student performance too often focuses on what community college students, in need of developmental courses, can’t do. Deeply inspired by the work of Robert Glaser, Lev Vygotsky, bell hooks, and Bagele Chilisa we (Monique Guishard, and four intermediate psychology students) have collaborated using student podcasts to theorize back to deficit, damaged centered theories of student underperformance.

Writing-to-Learn Using Social Pedagogy and Technology

Accounting faculty from LaGuardia will share the structure and results of an initiative centered on using ePortfolio and social pedagogy to facilitate writing-to-learn for accounting students. Through a series of ePortfolio-based assignments that connected two classes, along with an in-class writing workshop conducted by non-discipline faculty, students worked together to understand the importance of writing in the accounting discipline and strengthened their writing abilities.

Flerspråkighet och modermålsundervisning i Älvdalens kommun : En undersökning av politikernas åsikter

Denna studies syfte är att i Älvdalens kommun undersöka politikernas åsikter angående flerspråkighet och modersmålsundervisningen i den egna kommunen. Med hjälp av semi-strukturerade intervjuer har fyra politiker från Älvdalens kommun lagt fram sina åsikter angående flerspråkighet och modersmålsundervisning i allmänhet och i Älvdalens kommun i synnerhet. Studien kom fram till att de intervjuade politikerna överlag har stor erfarenhet av flerspråkighet och är väl medvetna om flerspråkighetens betydelse för individen, men att de samtidigt inte verkar kunna utnyttja dessa positiva erfarenheter i samband med den allt större invandringen av personer som talar andra språk till kommunen. Samtidigt råder det stor osäkerhet angående organisationen av modersmålsundervisningen i den egna kommunen, att med andra ord flera av de intervjuade politikerna var osäkra om modersmålsundervisningen existerar och i så fall hur den är utformad. Studien visade även tydligt att älvdalskan, den talade språkvarieteten i kommunen, av de intervjuade politikerna anses vara ett språk.

Märchen im DaF-Unterricht : Die didaktische Umsetzung von Märchen in der Praxis

Die vorliegende Magisterarbeit ist die direkte Fortsetzung der Studie Die didaktische Umsetzung von Märchen – eine Literaturstudie. Hierbei handelt es sich in beiden Fällen an im Rahmen des Ämneslärarprogrammes an Högskolan Dalarna verfasste Examensarbeiten. Diese hier präsentierte Studie untersucht inwieweit die innerhalb der Forschung gepriesenen Märchentexte tatsächlich von Lehrkräften an den schwedischen Schulen und im Bereich des DaFUnterrichtes didaktisch umgesetzt werden. Mit Hilfe einer Unterrichtseinheit mit dem Thema „Märchen“ auf dem Gymnasium sowie einer unter Lehrkräften durchgeführten Umfrage betreffend deren Verwendung von Märchen im DaF-Unterricht konnte konstatiert werden, dass die im Literaturkanon stiefmütterlich behandelten Märchen mit Hilfe der meisten der befragten Pädagogen einen Weg in die Klassenzimmer gefunden haben. Die am Unterricht teilgenommenen Lernenden konnten gleichzeitig bestätigen, dass eine solche didaktische Umsetzung nicht nur Freude bereiten, sondern ebenfalls die Lernbereitschaft steigern und damit auch das Wissen erweitern kann.

The Bird and its Flight: A Struggle for Freedom in Bulgakov's Master and Margarita

The Russian senior seminar this semester focused on Bulgakov’s famous novel, Master and Margarita. This presentation focuses on one of the themes of the novel, specifically Bulgakov’s use of birds in his work. Birds appear numerous times in Master and Margarita, and it always has a connotation of either a lack of freedom or a recent achievement of this goal. There are even instances in which characters themselves, as they seek freedom from their former oppressive lives, become the “birds” in the novel. This paper is an exploration of bird imagery in the novel.