Search results for "CS1"

showing 6 items of 6 documents

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

2015

Summary Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. Methods In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous…

Compassionate Use TrialsMalePediatricsmedicine.medical_specialtyGENOMIC STRUCTUREFEATURESEncephalopathyMolybdopterin synthaseCyclic pyranopterin monophosphateDrug Administration ScheduleCohort Studieschemistry.chemical_compoundOrganophosphorus CompoundsmedicineURINEHumansBIOSYNTHESISProspective cohort studyAdverse effectMolybdenum cofactor deficiencyPRECURSORMetal Metabolism Inborn ErrorsMetal metabolismbusiness.industryMUTATIONSInfant NewbornGENES MOCS1CPMPMOLYBDOPTERIN SYNTHASEGeneral Medicinemedicine.diseasePterinsTreatment OutcomechemistryFemalebusinessCohort studyLancet (London, England)
researchProduct

The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA2+-fil…

2015

Abstract Bax inhibitor-1 (BI-1) is an evolutionarily conserved pH-dependent Ca2+ leak channel in the endoplasmic reticulum and the founding member of a family of six highly hydrophobic mammalian proteins named transmembrane BAX inhibitor motif containing (TMBIM) 1-6 with BI-1 being TMBIM6. Here we compared the structure, subcellular localization, tissue expression and the effect on the cellular Ca2+ homeostasis of all family members side by side. We found that all TMBIM proteins possess the di-aspartyl pH sensor responsible for pH sensing identified in TMBIM6 and its bacterial homologue BsYetJ. TMBIM1-3 and TMBIM4-6 represent two phylogenetically distinct groups that are localized in the Go…

GHITMGAAPProtein familyEndoplasmic reticulumCell BiologyBiologyGolgi apparatusSubcellular localizationFAIM2Transmembrane proteinGHITMCell biologyTransmembrane domainsymbols.namesakeMICS1BiochemistryMembrane proteinGRINAsymbolsRECS1Molecular BiologyBiochimica et Biophysica Acta (BBA) - Molecular Cell Research
researchProduct

The Evolutionary Conserved Transmembrane BAX Inhibitor Motif (TMBIM) Containing Protein Family Members 5 and 6 Are Essential for the Development and …

2021

Frontiers in cell and developmental biology 9, 666484 (2021). doi:10.3389/fcell.2021.666484 special issue: "Cell Death and Survival / You-Wen He, Speciality Chief Editor; Craig Michael Walsh, Speciality Chief Editor; Arm Ruhul Amin, Associate Editor; Gustavo P. Amarante-Mendes, Associate Editor"

Gene knockdowncalciumProtein familylifeguardQH301-705.5Cell BiologyBiologyMitochondrionbiology.organism_classificationTransmembrane proteinGHITMCell biologymitochondriaMICS1RNA interferenceGRINAUnfolded protein responseDrosophila melanogasterBiology (General)ER stressDevelopmental Biology
researchProduct

Targeted next generation sequencing of breast implant-associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway gene…

2016

Oncologymedicine.medical_specialtysocs1030230 surgerymedicine.disease_causestat303 medical and health sciencesDNMT3A; SOCS1; STAT3; TP53; breast implant-associated anaplastic large-cell lymphoma; somatic mutations0302 clinical medicineInternal medicinemedicineAnaplastic lymphoma kinasebreast implant-associated anaplastic large-cell lymphomaSTAT3Anaplastic large-cell lymphomaMutationbiologySuppressor of cytokine signaling 1hematologyLarge cellJAK-STAT signaling pathwaybreast implantâ associated anaplastic large-cell lymphomatp53medicine.diseaseLymphomabreast implant-associated anaplastic large-cell lymphoma; dnmt3a; socs1; somatic mutations; stat3; tp53; hematology030220 oncology & carcinogenesisdnmt3aCancer researchbiology.proteinsomatic mutationsbreast implant–associated anaplastic large-cell lymphoma; DNMT3A; SOCS1; somatic mutations; STAT3; TP53; Hematology
researchProduct

Revisiting rainfall to explore exam questions and performance on CS1

2015

The Rainfall problem comprises small tasks that have been used to investigate student performance in introductory programming. We conducted several kinds of analyses to inform our understandings of student performance in CS1 relating to this problem. We analyzed implementation approaches and program errors, as in related studies, and also explored the role of test writing vis-a-vis the most common student error. Finally, using correlation analyses and manual inspection of the exam answers, we studied how well the Rainfall problem served as an exam question. The students' implementation choices reflected their familiarity with particular loop constructs, while the single most common error co…

ta113Guard (information security)novice programmersUnit testingCommon errorRainfall problemDivision by zeroCode (semiotics)Test (assessment)PedagogyComputingMilieux_COMPUTERSANDEDUCATIONMathematics educationta516CS1PsychologyKnowledge transferProceedings of the 15th Koli Calling Conference on Computing Education Research
researchProduct

Towards Computer-based Exams in CS1

2017

Even though IDEs are often a central tool when learning to program in CS1, many teachers still lean on paper-based exams. In this study, we examine the “test mode effect” in CS1 exams using the Rainfall problem. The test mode was two-phased. Half of the participants started working on the problem with pen and paper, while the other half had access to an IDE. After submitting their solution, all students could rework their solution on an IDE. The experiment was repeated twice during subsequent course instances. The results were mixed. From the marking perspective, there was no statistically significant difference resulting from the mode. However, the students starting with the paper-based pa…

ta113examinations (education)tietokoneavusteinen opetusMultimediaComputer scienceRainfall problemComputer basedtentitvasta-alkajatcomputer.software_genreprogrammingcomputer-assisted teachingbeginnersComputingMilieux_COMPUTERSANDEDUCATIONta516ohjelmointiCS1computer
researchProduct