Publications

Displaying 801 - 827 of 827
  • Warrier, V., Chakrabarti, B., Murphy, L., Chan, A., Craig, I., Mallya, U., Lakatošová, S., Rehnstrom, K., Peltonen, L., Wheelwright, S., Allison, C., Fisher, S. E., & Baron-Cohen, S. (2015). A pooled genome-wide association study of Asperger Syndrome. PLoS One, 10(7): e0131202. doi: 10.1371/journal.pone.0131202.

    Abstract

    Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.
  • Warrington, N. M., Howe, L. D., Paternoster, L., Kaakinen, M., Herrala, S., Huikari, V., Wu, Y. Y., Kemp, J. P., Timpson, N. J., St Pourcain, B., Smith, G. D., Tilling, K., Jarvelin, M.-R., Pennell, C. E., Evans, D. M., Lawlor, D. A., Briollais, L., & Palmer, L. J. (2015). A genome-wide association study of body mass index across early life and childhood. International Journal of Epidemiology, 44(2), 700-712. doi:10.1093/ije/dyv077.

    Abstract

    Background: Several studies have investigated the effect of known adult body mass index (BMI) associated single nucleotide polymorphisms (SNPs) on BMI in childhood. There has been no genome-wide association study (GWAS) of BMI trajectories over childhood.
    Methods: We conducted a GWAS meta-analysis of BMI trajectories from 1 to 17 years of age in 9377 children (77 967 measurements) from the Avon Longitudinal Study of Parents and Children (ALSPAC) and the Western Australian Pregnancy Cohort (Raine) Study. Genome-wide significant loci were examined in a further 3918 individuals (48 530 measurements) from Northern Finland. Linear mixed effects models with smoothing splines were used in each cohort for longitudinal modelling of BMI.
    Results: A novel SNP, downstream from the FAM120AOS gene on chromosome 9, was detected in the meta-analysis of ALSPAC and Raine. This association was driven by a difference in BMI at 8 years (T allele of rs944990 increased BMI; PSNP = 1.52 × 10−8), with a modest association with change in BMI over time (PWald(Change) = 0.006). Three known adult BMI-associated loci (FTO, MC4R and ADCY3) and one childhood obesity locus (OLFM4) reached genome-wide significance (PWald < 1.13 × 10−8) with BMI at 8 years and/or change over time.
    Conclusions: This GWAS of BMI trajectories over childhood identified a novel locus that warrants further investigation. We also observed genome-wide significance with previously established obesity loci, making the novel observation that these loci affected both the level and the rate of change in BMI. We have demonstrated that the use of repeated measures data can increase power to allow detection of genetic loci with smaller sample sizes.
  • Warrington, N. M., Zhu, G., Dy, V., Heath, A. C., Madden, P. A. F., Hemani, G., Kemp, J. P., McMahon, G., St Pourcain, B., Timpson, N. J., Taylor, C. M., Golding, J., Lawlor, D. A., Steer, C., Montgomery, G. W., Martin, N. G., Smith, G. D., Evans, D. M., & Whitfield, J. B. (2015). Genome-wide association study of blood lead shows multiple associations near ALAD. Human Molecular Genetics, 24(13), 3871-3879. doi:10.1093/hmg/ddv112.

    Abstract

    Exposure to high levels of environmental lead, or biomarker evidence of high body lead content, is associated with anaemia, developmental and neurological deficits in children, and increased mortality in adults. Adverse effects of lead still occur despite substantial reduction in environmental exposure. There is genetic variation between individuals in blood lead concentration but the polymorphisms contributing to this have not been defined. We measured blood or erythrocyte lead content, and carried out genome-wide association analysis, on population-based cohorts of adult volunteers from Australia and UK (N = 5433). Samples from Australia were collected in two studies, in 1993–1996 and 2002–2005 and from UK in 1991–1992. One locus, at ALAD on chromosome 9, showed consistent association with blood lead across countries and evidence for multiple independent allelic effects. The most significant single nucleotide polymorphism (SNP), rs1805313 (P = 3.91 × 10−14 for lead concentration in a meta-analysis of all data), is known to have effects on ALAD expression in blood cells but other SNPs affecting ALAD expression did not affect blood lead. Variants at 12 other loci, including ABO, showed suggestive associations (5 × 10−6 >} P {> 5 × 10−8). Identification of genetic polymorphisms affecting blood lead reinforces the view that genetic factors, as well as environmental ones, are important in determining blood lead levels. The ways in which ALAD variation affects lead uptake or distribution are still to be determined.
  • Watson, L. M., Wong, M. M. K., & Becker, E. B. E. (2015). Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia. Open Biology, 5: 150056. doi:10.1098/rsob.150056.

    Abstract

    Induced pluripotent stem cell (iPSC) technology has emerged as an important tool in understanding, and potentially reversing, disease pathology. This is particularly true in the case of neurodegenerative diseases, in which the affected cell types are not readily accessible for study. Since the first descriptions of iPSC-based disease modelling, considerable advances have been made in understanding the aetiology and progression of a diverse array of neurodegenerative conditions, including Parkinson's disease and Alzheimer's disease. To date, however, relatively few studies have succeeded in using iPSCs to model the neurodegeneration observed in cerebellar ataxia. Given the distinct neurodevelopmental phenotypes associated with certain types of ataxia, iPSC-based models are likely to provide significant insights, not only into disease progression, but also to the development of early-intervention therapies. In this review, we describe the existing iPSC-based disease models of this heterogeneous group of conditions and explore the challenges associated with generating cerebellar neurons from iPSCs, which have thus far hindered the expansion of this research.
  • Weber, A. (2002). Assimilation violation and spoken-language processing: A supplementary report. Language and Speech, 45, 37-46. doi:10.1177/00238309020450010201.

    Abstract

    Previous studies have shown that spoken-language processing is inhibited by violation of obligatory regressive assimilation. Weber (2001) replicated this inhibitory effect in a phoneme-monitoring study examining regressive place assimilation of nasals, but found facilitation for violation of progressive assimilation. German listeners detected the velar fricative [x] more quickly when fricative assimilation was violated (e.g., *[bIxt] or *[blInx@n]) than when no violation occurred (e.g., [baxt] or [blu:x@n]). It was argued that a combination of two factors caused facilitation:(1) progressive assimilation creates different restrictions for the monitoring target than regressive assimilation does, and (2) the sequences violating assimilation (e.g., *[Ix]) are novel for German listeners and therefore facilitate fricative detection (novel popout). The present study tested progressive assimilation violation in non-novel sequences using the palatal fricative [C]. Stimuli either violated fricative assimilation (e.g., *[ba:C@l ]) or did not (e.g., [bi: C@l ]). This manipulation does not create novel sequences: sequences like *[a:C] can occur across word boundaries, while *[Ix] cannot. No facilitation was found. However, violation also did not significantly inhibit processing. The results confirm that facilitation depends on the combination of progressive assimilation with novelty of the sequence.
  • Weber, A., & Cutler, A. (2003). Perceptual similarity co-existing with lexical dissimilarity [Abstract]. Abstracts of the 146th Meeting of the Acoustical Society of America. Journal of the Acoustical Society of America, 114(4 Pt. 2), 2422. doi:10.1121/1.1601094.

    Abstract

    The extreme case of perceptual similarity is indiscriminability, as when two second‐language phonemes map to a single native category. An example is the English had‐head vowel contrast for Dutch listeners; Dutch has just one such central vowel, transcribed [E]. We examine whether the failure to discriminate in phonetic categorization implies indiscriminability in other—e.g., lexical—processing. Eyetracking experiments show that Dutch‐native listeners instructed in English to ‘‘click on the panda’’ look (significantly more than native listeners) at a pictured pencil, suggesting that pan‐ activates their lexical representation of pencil. The reverse, however, is not the case: ‘‘click on the pencil’’ does not induce looks to a panda, suggesting that pen‐ does not activate panda in the lexicon. Thus prelexically undiscriminated second‐language distinctions can nevertheless be maintained in stored lexical representations. The problem of mapping a resulting unitary input to two distinct categories in lexical representations is solved by allowing input to activate only one second‐language category. For Dutch listeners to English, this is English [E], as a result of which no vowels in the signal ever map to words containing [ae]. We suggest that the choice of category is here motivated by a more abstract, phonemic, metric of similarity.
  • Wegman, J., Tyborowska, A., Hoogman, M., Vasquez, A. A., & Janzen, G. (2017). The brain-derived neurotrophic factor Val66Met polymorphism affects encoding of object locations during active navigation. European Journal of Neuroscience, 45(12), 1501-1511. doi:10.1111/ejn.13416.

    Abstract

    The brain-derived neurotrophic factor (BDNF) was shown to be involved in spatial memory and spatial strategy preference. A naturally occurring single nucleotide polymorphism of the BDNF gene (Val66Met) affects activity-dependent secretion of BDNF. The current event-related fMRI study on preselected groups of ‘Met’ carriers and homozygotes of the ‘Val’ allele investigated the role of this polymorphism on encoding and retrieval in a virtual navigation task in 37 healthy volunteers. In each trial, participants navigated toward a target object. During encoding, three positional cues (columns) with directional cues (shadows) were available. During retrieval, the invisible target had to be replaced while either two objects without shadows (objects trial) or one object with a shadow (shadow trial) were available. The experiment consisted of blocks, informing participants of which trial type would be most likely to occur during retrieval. We observed no differences between genetic groups in task performance or time to complete the navigation tasks. The imaging results show that Met carriers compared to Val homozygotes activate the left hippocampus more during successful object location memory encoding. The observed effects were independent of non-significant performance differences or volumetric differences in the hippocampus. These results indicate that variations of the BDNF gene affect memory encoding during spatial navigation, suggesting that lower levels of BDNF in the hippocampus results in less efficient spatial memory processing
  • Wheeldon, L. (2003). Inhibitory from priming of spoken word production. Language and Cognitive Processes, 18(1), 81-109. doi:10.1080/01690960143000470.

    Abstract

    Three experiments were designed to examine the effect on picture naming of the prior production of a word related in phonological form. In Experiment 1, the latency to produce Dutch words in response to pictures (e.g., hoed , hat) was longer following the production of a form-related word (e.g., hond , dog) in response to a definition on a preceding trial, than when the preceding definition elicited an unrelated word (e.g., kerk , church). Experiment 2 demonstrated that the inhibitory effect disappears when one unrelated word is produced intervening prime and target productions (e.g., hond-kerk-hoed ). The size of the inhibitory effect was not significantly affected by the frequency of the prime words or the target picture names. In Experiment 3, facilitation was observed for word pairs that shared offset segments (e.g., kurk-jurk , cork-dress), whereas inhibition was observed for shared onset segments (e.g., bloed-bloem , blood-flower). However, no priming was observed for prime and target words with shared phonemes but no mismatching segments (e.g., oom-boom , uncle-tree; hex-hexs , fence-witch). These findings are consistent with a process of phoneme competition during phonological encoding.
  • Whelpton, M., Guðmundsdóttir Beck, þ., & Jordan, F. (2015). The semantics and morphology of household container names in Icelandic and Dutch. Language Sciences, 49, 67-81. doi:10.1016/j.langsci.2014.07.014.

    Abstract

    In this paper, we report an experiment on the naming of household containers in Dutch and Icelandic carried out as part of the Evolution of Semantic Systems project (EoSS; Majid et al., 2011). This naming experiment allows us to support and elaborate on a hypothesis by Malt et al. (2003) that productive morphology in the naming domain can have an influence on boundary placement within the extensional space. Specifically, we demonstrate that the Dutch diminutive -(t)je favours a cut between small items versus others, whereas Icelandic, which does not use the diminutive in this domain, favours a cut between large items and others. This is not a typological effect, as Dutch and Icelandic are both Germanic languages and both have diminutive morphology available in principle. We find no evidence that the diminutive produces a proliferation of terms and/or fine-grained nesting within the extensional domain. Rather, the Dutch diminutive favours a more even distribution of terms across the space whereas Icelandic favours broad inclusive terms with a number of narrower specialist terms. Further, the extensional space defined by the diminutive is not associated with its own clear prototypical exemplar. Using evidence from compounding and modification, we also consider which semantic features are prominent in differentiating categories within the domain. By far the most prominent in both languages is the inferred contents of the container. Other than contents, however, the languages differ in the range and prominence of features such as intended usage or material of composition. Our results demonstrate that in order to understand the processes that produce semantic divisions of basic object classes, we should consider fine-grained analyses of closely related languages alongside analyses of typologically different languages.
  • Wiese, R., Orzechowska, P., Alday, P. M., & Ulbrich, C. (2017). Structural Principles or Frequency of Use? An ERP Experiment on the Learnability of Consonant Clusters. Frontiers in Psychology, 7: 2005. doi:10.3389/fpsyg.2016.02005.

    Abstract

    Phonological knowledge of a language involves knowledge about which segments can be combined under what conditions. Languages vary in the quantity and quality of licensed combinations, in particular sequences of consonants, with Polish being a language with a large inventory of such combinations. The present paper reports on a two-session experiment in which Polish-speaking adult participants learned nonce words with final consonant clusters. The aim was to study the role of two factors which potentially play a role in the learning of phonotactic structures: the phonological principle of sonority (ordering sound segments within the syllable according to their inherent loudness) and the (non-) existence as a usage-based phenomenon. EEG responses in two different time windows (adversely to behavioral responses) show linguistic processing by native speakers of Polish to be sensitive to both distinctions, in spite of the fact that Polish is rich in sonority-violating clusters. In particular, a general learning effect in terms of an N400 effect was found which was demonstrated to be different for sonority-obeying clusters than for sonority-violating clusters. Furthermore, significant interactions of formedness and session, and of existence and session, demonstrate that both factors, the sonority principle and the frequency pattern, play a role in the learning process.
  • De Wit, S. J., van der Werf, Y. D., Mataix-Cols, D., Trujillo, J. P., van Oppen, P., Veltman, D. J., & van den Heuvel, O. A. (2015). Emotion regulation before and after transcranial magnetic stimulation in obsessive compulsive disorder. Psychological Medicine, 45(14), 3059-3073. doi:10.1017/S0033291715001026.

    Abstract

    Impaired emotion regulation may underlie exaggerated emotional reactivity in patients with obsessive compulsive disorder (OCD), yet instructed emotion regulation has never been studied in the disorder. METHOD: This study aimed to assess the neural correlates of emotion processing and regulation in 43 medication-free OCD patients and 38 matched healthy controls, and additionally test if these can be modulated by stimulatory (patients) and inhibitory (controls) repetitive transcranial magnetic stimulation (rTMS) over the left dorsolateral prefrontal cortex (dlPFC). Participants performed an emotion regulation task during functional magnetic resonance imaging before and after a single session of randomly assigned real or sham rTMS. Effect of group and rTMS were assessed on self-reported distress ratings and brain activity in frontal-limbic regions of interest. RESULTS: Patients had higher distress ratings than controls during emotion provocation, but similar rates of distress reduction after voluntary emotion regulation. OCD patients compared with controls showed altered amygdala responsiveness during symptom provocation and diminished left dlPFC activity and frontal-amygdala connectivity during emotion regulation. Real v. sham dlPFC stimulation differentially modulated frontal-amygdala connectivity during emotion regulation in OCD patients. CONCLUSIONS: We propose that the increased emotional reactivity in OCD may be due to a deficit in emotion regulation caused by a failure of cognitive control exerted by the dorsal frontal cortex. Modulatory rTMS over the left dlPFC may influence automatic emotion regulation capabilities by influencing frontal-limbic connectivity.
  • Witteman, M. J., Bardhan, N. P., Weber, A., & McQueen, J. M. (2015). Automaticity and stability of adaptation to foreign-accented speech. Language and Speech, 52(2), 168-189. doi:10.1177/0023830914528102.

    Abstract

    In three cross-modal priming experiments we asked whether adaptation to a foreign-accented speaker is automatic, and whether adaptation can be seen after a long delay between initial exposure and test. Dutch listeners were exposed to a Hebrew-accented Dutch speaker with two types of Dutch words: those that contained [ɪ] (globally accented words), and those in which the Dutch [i] was shortened to [ɪ] (specific accent marker words). Experiment 1, which served as a baseline, showed that native Dutch participants showed facilitatory priming for globally accented, but not specific accent, words. In experiment 2, participants performed a 3.5-minute phoneme monitoring task, and were tested on their comprehension of the accented speaker 24 hours later using the same cross-modal priming task as in experiment 1. During the phoneme monitoring task, listeners were asked to detect a consonant that was not strongly accented. In experiment 3, the delay between exposure and test was extended to 1 week. Listeners in experiments 2 and 3 showed facilitatory priming for both globally accented and specific accent marker words. Together, these results show that adaptation to a foreign-accented speaker can be rapid and automatic, and can be observed after a prolonged delay in testing.
  • Wittenburg, P. (2003). The DOBES model of language documentation. Language Documentation and Description, 1, 122-139.
  • Wnuk, E., De Valk, J. M., Huisman, J. L. A., & Majid, A. (2017). Hot and cold smells: Odor-temperature associations across cultures. Frontiers in Psychology, 8: 1373. doi:10.3389/fpsyg.2017.01373.

    Abstract

    It is often assumed odors are associated with hot and cold temperature, since odor processing may trigger thermal sensations, such as coolness in the case of mint. It is unknown, however, whether people make consistent temperature associations for a variety of everyday odors, and, if so, what determines them. Previous work investigating the bases of cross-modal associations suggests a number of possibilities, including universal forces (e.g., perception), as well as culture-specific forces (e.g., language and cultural beliefs). In this study, we examined odor-temperature associations in three cultures—Maniq (N = 11), Thai (N = 24), and Dutch (N = 24)—who differ with respect to their cultural preoccupation with odors, their odor lexicons, and their beliefs about the relationship of odors (and odor objects) to temperature. Participants matched 15 odors to temperature by touching cups filled with hot or cold water, and described the odors in their native language. The results showed no consistent associations among the Maniq, and only a handful of consistent associations between odor and temperature among the Thai and Dutch. The consistent associations differed across the two groups, arguing against their universality. Further analysis revealed cross-modal associations could not be explained by language, but could be the result of cultural beliefs
  • Li, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J. M., Ikram, M. K., Höhn, R., Vitart, V., Hewitt, A. W., Oexle, K., Mäkelä, K.-M., MacGregor, S., Pirastu, M., Fan, Q., Cheng, C.-Y., St Pourcain, B., McMahon, G., Kemp, J. P., Northstone, K., Rahi, J. S. and 69 moreLi, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J. M., Ikram, M. K., Höhn, R., Vitart, V., Hewitt, A. W., Oexle, K., Mäkelä, K.-M., MacGregor, S., Pirastu, M., Fan, Q., Cheng, C.-Y., St Pourcain, B., McMahon, G., Kemp, J. P., Northstone, K., Rahi, J. S., Cumberland, P. M., Martin, N. G., Sanfilippo, P. G., Lu, Y., Wang, Y. X., Hayward, C., Polašek, O., Campbell, H., Bencic, G., Wright, A. F., Wedenoja, J., Zeller, T., Schillert, A., Mirshahi, A., Lackner, K., Yip, S. P., Yap, M. K. H., Ried, J. S., Gieger, C., Murgia, F., Wilson, J. F., Fleck, B., Yazar, S., Vingerling, J. R., Hofman, A., Uitterlinden, A., Rivadeneira, F., Amin, N., Karssen, L., Oostra, B. A., Zhou, X., Teo, Y.-Y., Tai, E. S., Vithana, E., Barathi, V., Zheng, Y., Siantar, R. G., Neelam, K., Shin, Y., Lam, J., Yonova-Doing, E., Venturini, C., Hosseini, S. M., Wong, H.-S., Lehtimäki, T., Kähönen, M., Raitakari, O., Timpson, N. J., Evans, D. M., Khor, C.-C., Aung, T., Young, T. L., Mitchell, P., Klein, B., van Duijn, C. M., Meitinger, T., Jonas, J. B., Baird, P. N., Mackey, D. A., Wong, T. Y., Saw, S.-M., Pärssinen, O., Stambolian, D., Hammond, C. J., Klaver, C. C. W., Williams, C., Paterson, A. D., Bailey-Wilson, J. E., & Guggenheim, J. A. (2015). Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Human Genetics, 134, 131-146. doi:10.1007/s00439-014-1500-y.

    Abstract

    To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E−8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E−07), TOX (rs7823467, P = 3.47E−07) and LINC00340 (rs12212674, P = 1.49E−06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = −0.59, P = 2.10E−04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.
  • Wolf, M. C. (2015). Het verschil tussen hardop en stillezen wat betreft leessnelheid en tekstbegrip en de invloed hierop van fonologisch bewustzijn, benoemsnelheid en visuele aandachtsspanne. Student Undergraduate Research E-journal, 1(1), 261-264. Retrieved from http://journals.library.tudelft.nl/index.php/sure/article/view/1025.

    Abstract

    In het onderwijs wordt aangenomen dat hardop en stillezen dezelfde processen zijn. In dit onderzoek wordt gekeken naar het verschil tussen hardop en stillezen wat betreft leessnelheid en tekstbegrip bij 90 kinderen uit groep 4. Ook wordt de invloed van de cognitieve vaardigheden fonologisch bewustzijn, benoemsnelheid en visuele aandachtsspanne op de verschillende leesmodi onderzocht. De participanten lazen stil sneller, maar begrepen de tekst beter hardop. De cognitieve vaardigheden correleerden met hardop en stillezen wat betreft leessnelheid, maar hingen in beide leesmodi niet samen met tekstbegrip. Hoewel hardop en stillezen samenhangen, onderstrepen deze bevindingen dat het verschillende leesmodi zijn.
  • Wong, M. M. K., Watson, L. M., & Becker, E. B. E. (2017). Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells. Journal of Neurology & Neuromedicine, 2(7), 11-15. doi:10.29245/2572.942X/2017/7.1134.

    Abstract

    The cerebellar ataxias are a group of incurable brain disorders that are caused primarily by the progressive dysfunction and degeneration of cerebellar Purkinje cells. The lack of reliable disease models for the heterogeneous ataxias has hindered the understanding of the underlying pathogenic mechanisms as well as the development of effective therapies for these devastating diseases. Recent advances in the field of induced pluripotent stem cell (iPSC) technology offer new possibilities to better understand and potentially reverse disease pathology. Given the neurodevelopmental phenotypes observed in several types of ataxias, iPSC-based models have the potential to provide significant insights into disease progression, as well as opportunities for the development of early intervention therapies. To date, however, very few studies have successfully used iPSC-derived cells to cerebellar ataxias. In this review, we focus on recent breakthroughs in generating human iPSC-derived Purkinje cells. We also highlight the future challenges that will need to be addressed in order to fully exploit these models for the modelling of the molecular mechanisms underlying cerebellar ataxias and the development of effective therapeutics.
  • Xiang, H., Van Leeuwen, T. M., Dediu, D., Roberts, L., Norris, D. G., & Hagoort, P. (2015). L2-proficiency-dependent laterality shift in structural connectivity of brain language pathways. Brain Connectivity, 5(6), 349-361. doi:10.1089/brain.2013.0199.

    Abstract

    Diffusion tensor imaging (DTI) and a longitudinal language learning approach were applied to investigate the relationship between the achieved second language (L2) proficiency during L2 learning and the reorganization of structural connectivity between core language areas. Language proficiency tests and DTI scans were obtained from German students before and after they completed an intensive 6-week course of the Dutch language. In the initial learning stage, with increasing L2 proficiency, the hemispheric dominance of the BA6-temporal pathway (mainly along the arcuate fasciculus) shifted from the left to the right hemisphere. With further increased proficiency, however, lateralization dominance was again found in the left BA6-temporal pathway. This result is consistent with reports in the literature that imply a stronger involvement of the right hemisphere in L2-processing especially for less proficient L2-speakers. This is the first time that a L2-proficiency-dependent laterality shift in structural connectivity of language pathways during L2 acquisition has been observed to shift from left to right, and back to left hemisphere dominance with increasing L2-proficiency. We additionally find that changes in fractional anisotropy values after the course are related to the time elapsed between the two scans. The results suggest that structural connectivity in (at least part of) the perisylvian language network may be subject to fast dynamic changes following language learning
  • Yager, J., & Burenhult, N. (2017). Jedek: a newly discovered Aslian variety of Malaysia. Linguistic Typology, 21(3), 493-545. doi:10.1515/lingty-2017-0012.

    Abstract

    Jedek is a previously unrecognized variety of the Northern Aslian subgroup of the Aslian branch of the Austroasiatic language family. It is spoken by c. 280 individuals in the resettlement area of Sungai Rual, near Jeli in Kelantan state, Peninsular Malaysia. The community originally consisted of several bands of foragers along the middle reaches of the Pergau river. Jedek’s distinct status first became known during a linguistic survey carried out in the DOBES project Tongues of the Semang (2005-2011). This paper describes the process leading up to its discovery and provides an overview of its typological characteristics.
  • Yoshihara, M., Nakayama, M., Verdonschot, R. G., & Hino, Y. (2017). The phonological unit of Japanese Kanji compounds: A masked priming investigation. Journal of Experimental Psychology: Human Perception and Performance, 43(7), 1303-1328. doi:10.1037/xhp0000374.

    Abstract

    Using the masked priming paradigm, we examined which phonological unit is used when naming Kanji compounds. Although the phonological unit in the Japanese language has been suggested to be the mora, Experiment 1 found no priming for mora-related Kanji prime-target pairs. In Experiment 2, significant priming was only found when Kanji pairs shared the whole sound of their initial Kanji characters. Nevertheless, when the same Kanji pairs used in Experiment 2 were transcribed into Kana, significant mora priming was observed in Experiment 3. In Experiment 4, matching the syllable structure and pitch-accent of the initial Kanji characters did not lead to mora priming, ruling out potential alternative explanations for the earlier absence of the effect. A significant mora priming effect was observed, however, when the shared initial mora constituted the whole sound of their initial Kanji characters in Experiments 5. Lastly, these results were replicated in Experiment 6. Overall, these results indicate that the phonological unit involved when naming Kanji compounds is not the mora but the whole sound of each Kanji character. We discuss how different phonological units may be involved when processing Kanji and Kana words as well as the implications for theories dealing with language production processes.
  • Zeshan, U. (2003). Aspects of Türk Işaret Dili (Turkish Sign Language). Sign Language and Linguistics, 6(1), 43-75. doi:10.1075/sll.6.1.04zes.

    Abstract

    This article provides a first overview of some striking grammatical structures in Türk Idotscedilaret Dili (Turkish Sign Language, TID), the sign language used by the Deaf community in Turkey. The data are described with a typological perspective in mind, focusing on aspects of TID grammar that are typologically unusual across sign languages. After giving an overview of the historical, sociolinguistic and educational background of TID and the language community using this sign language, five domains of TID grammar are investigated in detail. These include a movement derivation signalling completive aspect, three types of nonmanual negation — headshake, backward head tilt, and puffed cheeks — and their distribution, cliticization of the negator NOT to a preceding predicate host sign, an honorific whole-entity classifier used to refer to humans, and a question particle, its history and current status in the language. A final evaluation points out the significance of these data for sign language research and looks at perspectives for a deeper understanding of the language and its history.
  • Zhao, H., Zhou, W., Yao, Z., Wan, Y., Cao, J., Zhang, L., Zhao, J., Li, H., Zhou, R., Li, B., Wei, G., Zhang, Z., French, C. A., Dekker, J. D., Yang, Y., Fisher, S. E., Tucker, H. O., & Guo, X. (2015). Foxp1/2/4 regulate endochondral ossification as a suppresser complex. Developmental Biology, 398, 242-254. doi:10.1016/j.ydbio.2014.12.007.

    Abstract

    Osteoblast induction and differentiation in developing long bones is dynamically controlled by the opposing action of transcriptional activators and repressors. In contrast to the long list of activators that have been discovered over past decades, the network of repressors is not well-defined. Here we identify the expression of Foxp1/2/4 proteins, comprised of Forkhead-box (Fox) transcription factors of the Foxp subfamily, in both perichondrial skeletal progenitors and proliferating chondrocytes during endochondral ossification. Mice carrying loss-of-function and gain-of-function Foxp mutations had gross defects in appendicular skeleton formation. At the cellular level, over-expression of Foxp1/2/4 in chondroctyes abrogated osteoblast formation and chondrocyte hypertrophy. Conversely, single or compound deficiency of Foxp1/2/4 in skeletal progenitors or chondrocytes resulted in premature osteoblast differentiation in the perichondrium, coupled with impaired proliferation, survival, and hypertrophy of chondrocytes in the growth plate. Foxp1/2/4 and Runx2 proteins interacted in vitro and in vivo, and Foxp1/2/4 repressed Runx2 transactivation function in heterologous cells. This study establishes Foxp1/2/4 proteins as coordinators of osteogenesis and chondrocyte hypertrophy in developing long bones and suggests that a novel transcriptional repressor network involving Foxp1/2/4 may regulate Runx2 during endochondral ossification.
  • Zhen, Z., Yang, Z., Huang, L., Kong, X., Wang, X., Dang, X., Huang, Y., Song, Y., & Liu, J. (2015). Quantifying interindividual variability and asymmetry of face-selective regions: A probabilistic functional atlas. NeuroImage, 113, 13-25. doi:10.1016/j.neuroimage.2015.03.010.

    Abstract

    Face-selective regions (FSRs) are among the most widely studied functional regions in the human brain. However, individual variability of the FSRs has not been well quantified. Here we use functional magnetic resonance imaging (fMRI) to localize the FSRs and quantify their spatial and functional variabilities in 202 healthy adults. The occipital face area (OFA), posterior and anterior fusiform face areas (pFFA and aFFA), posterior continuation of the superior temporal sulcus (pcSTS), and posterior and anterior STS (pSTS and aSTS) were delineated for each individual with a semi-automated procedure. A probabilistic atlas was constructed to characterize their interindividual variability, revealing that the FSRs were highly variable in location and extent across subjects. The variability of FSRs was further quantified on both functional (i.e., face selectivity) and spatial (i.e., volume, location of peak activation, and anatomical location) features. Considerable interindividual variability and rightward asymmetry were found in all FSRs on these features. Taken together, our work presents the first effort to characterize comprehensively the variability of FSRs in a large sample of healthy subjects, and invites future work on the origin of the variability and its relation to individual differences in behavioral performance. Moreover, the probabilistic functional atlas will provide an adequate spatial reference for mapping the face network.
  • Zhen, Z., Kong, X., Huang, L., Yang, Z., Wang, X., Hao, X., Huang, T., Song, Y., & Liu, J. (2017). Quantifying the variability of scene-selective regions: Interindividual, interhemispheric, and sex differences. Human Brain Mapping, 38(4), 2260-2275. doi:10.1002/hbm.23519.

    Abstract

    Scene-selective regions (SSRs), including the parahippocampal place area (PPA), retrosplenial cortex (RSC), and transverse occipital sulcus (TOS), are among the most widely characterized functional regions in the human brain. However, previous studies have mostly focused on the commonality within each SSR, providing little information on different aspects of their variability. In a large group of healthy adults (N = 202), we used functional magnetic resonance imaging to investigate different aspects of topographical and functional variability within SSRs, including interindividual, interhemispheric, and sex differences. First, the PPA, RSC, and TOS were delineated manually for each individual. We then demonstrated that SSRs showed substantial interindividual variability in both spatial topography and functional selectivity. We further identified consistent interhemispheric differences in the spatial topography of all three SSRs, but distinct interhemispheric differences in scene selectivity. Moreover, we found that all three SSRs showed stronger scene selectivity in men than in women. In summary, our work thoroughly characterized the interindividual, interhemispheric, and sex variability of the SSRs and invites future work on the origin and functional significance of these variabilities. Additionally, we constructed the first probabilistic atlases for the SSRs, which provide the detailed anatomical reference for further investigations of the scene network.
  • Zora, H., Schwarz, I.-C., & Heldner, M. (2015). Neural correlates of lexical stress: Mismatch negativity reflects fundamental frequency and intensity. NeuroReport, 26(13), 791-796. doi:10.1097/WNR.0000000000000426.

    Abstract

    Neural correlates of lexical stress were studied using the mismatch negativity (MMN) component in event-related potentials. The MMN responses were expected to reveal the encoding of stress information into long-term memory and the contributions of prosodic features such as fundamental frequency (F0) and intensity toward lexical access. In a passive oddball paradigm, neural responses to changes in F0, intensity, and in both features together were recorded for words and pseudowords. The findings showed significant differences not only between words and pseudowords but also between prosodic features. Early processing of prosodic information in words was indexed by an intensity-related MMN and an F0-related P200. These effects were stable at right-anterior and mid-anterior regions. At a later latency, MMN responses were recorded for both words and pseudowords at the mid-anterior and posterior regions. The P200 effect observed for F0 at the early latency for words developed into an MMN response. Intensity elicited smaller MMN for pseudowords than for words. Moreover, a larger brain area was recruited for the processing of words than for the processing of pseudowords. These findings suggest earlier and higher sensitivity to prosodic changes in words than in pseudowords, reflecting a language-related process. The present study, therefore, not only establishes neural correlates of lexical stress but also confirms the presence of long-term memory traces for prosodic information in the brain.
  • De Zubicaray, G., & Fisher, S. E. (Eds.). (2017). Genes, brain and language [Special Issue]. Brain and Language, 172.
  • De Zubicaray, G., & Fisher, S. E. (2017). Genes, Brain, and Language: A brief introduction to the Special Issue. Brain and Language, 172, 1-2. doi:10.1016/j.bandl.2017.08.003.

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