Abstract：
:Although many pathogenic copy number variations (CNVs) are associated with neuropsychiatric diseases, few of them have been functionally characterised. Here we report multiple schizophrenia cases with CNV abnormalities specific to unc-51-like kinase 4 (ULK4), a serine/threonine kinase gene. Deletions spanning exons 21-34 of ULK4 were present in 4 out of 3391 schizophrenia patients from the International Schizophrenia Consortium, but absent in 3181 controls. Deletions removing exons 33 and 34 of the large splice variant of ULK4 also were enriched in Icelandic schizophrenia and bipolar patients compared with 98,022 controls (P = 0.0007 for schizophrenia plus bipolar disorder). Combining the two cohorts gives a P-value less than 0.0001 for schizophrenia, or for schizophrenia plus bipolar disorder. The expression of ULK4 is neuron-specific and developmentally regulated. ULK4 modulates multiple signalling pathways that include ERK, p38, PKC and JNK, which are involved in stress responses and implicated in schizophrenia. Knockdown of ULK4 disrupts the composition of microtubules and compromises neuritogenesis and cell motility. Targeted Ulk4 deletion causes corpus callosum agenesis in mice. Our findings indicate that ULK4 is a rare susceptibility gene for schizophrenia.
journal_name
J Cell Scijournal_title
Journal of cell scienceauthors
Lang B,Pu J,Hunter I,Liu M,Martin-Granados C,Reilly TJ,Gao GD,Guan ZL,Li WD,Shi YY,He G,He L,Stefánsson H,St Clair D,Blackwood DH,McCaig CD,Shen Sdoi
10.1242/jcs.137604subject
Has Abstractpub_date
2014-02-01 00:00:00pages
630-40issue
Pt 3eissn
0021-9533issn
1477-9137pii
jcs.137604journal_volume
127pub_type
杂志文章abstract：:To clarify the involvement of actin in the formation of the yeast cell wall, reverting protoplasts of Schizosaccharomyces pombe were used as a simple model system. Actin of reverting protoplasts was labeled with rhodamine-conjugated phalloidin and observed by conventional fluorescence microscopy and laser scanning con...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1989-12-01 00:00:00
abstract：:Cells undergo a variety of physiological processes, including division, migration and differentiation, under the influence of endogenous electrical cues, which are generated physiologically and pathologically in the extracellular and sometimes intracellular spaces. These signals are transduced to regulate cell behavio...
journal_title：Journal of cell science
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doi：10.1242/jcs.023564
更新日期：2009-12-01 00:00:00
abstract：:Recent evidence suggests that organization of the extracellular matrix (ECM) into aligned fibrils or fibril-like ECM topographies promotes rapid migration in fibroblasts. However, the mechanisms of cell migration that are altered by these changes in micro-environmental topography remain unknown. Here, using 1D fibrill...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.098806
更新日期：2012-05-01 00:00:00
abstract：:The cell wall of 24-h zygotes of Fucus serratus is composed of 3 layers--an inner fibrillar layer (sulphated fucan), an outer fibrillar layer (alginic aicd/cellulose) and an exterior amorphous layer (sulphated fucan, alginic acid). The 2 layers containing sulphated fucan are preferentially thickened at the rhizoid pol...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
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abstract：:The production, transport, and disposition of material labelled with [3H]mannose were studied in microsurgically enucleated and control amoebae. Cells were injected with the precursor and samples were prepared for electron-microscope radioautography at intervals, up to 24 h later. Control cells showed heavy labelling ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
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abstract：:The progression of cells from metaphase to anaphase is thought to be regulated by a checkpoint that delays entry into anaphase until all chromosomes reach a stable bi-polar attachment at the metaphase plate. Previous work has suggested that the 3F3/2 kinetochore phosphoepitopes are involved in this checkpoint system. ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:T cell activation is accompanied by actin-mediated receptor clustering and reorganization of lipid rafts. It has been suggested that costimulatory molecules might be involved in these processes. We here provide evidence that engagement of the adhesion molecule CD44 initiates cytoskeletal rearrangement and membrane reo...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2001-03-01 00:00:00
abstract：:Low-density lipoprotein (LDL) deposition, aggregation and retention in the endothelial sub-intima are critical initiating events during atherosclerosis. Macrophages digest aggregated LDL (agLDL) through a process called exophagy. High-density lipoprotein (HDL) plays an atheroprotective role, but studies attempting to ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.237271
更新日期：2019-12-02 00:00:00
abstract：:Extracellular matrix receptors of the integrin family have a dual role in the epidermis, regulating both adhesion and differentiation. Loss of contact with the extracellular matrix causes keratinocytes to become committed to terminal differentiation, and results in a decrease in the ability of the alpha 5 beta 1 integ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1993-12-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2000-10-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.205492
更新日期：2017-12-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1976-01-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.239855
更新日期：2020-01-23 00:00:00
abstract：:EPHA2 receptor tyrosine kinase is overexpressed in several human cancer types and promotes malignancy. However, the mechanisms by which EPHA2 promotes tumor progression are not completely understood. Here we report that overexpression of a wild-type EPHA2, but not a signaling-defective cytoplasmic truncation mutant (D...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.017145
更新日期：2008-02-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.230508
更新日期：2019-07-18 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.207670
更新日期：2018-02-05 00:00:00
abstract：:The tachyzoite stage of the protozoan parasite Toxoplasma gondii has two populations of microtubules: spindle microtubules and subpellicular microtubules. To determine how these two microtubule populations are regulated, we investigated microtubule behavior during the cell cycle following treatment with microtubule-di...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：:Cells respond to a wide variety of mechanical stimuli, ranging from thermal molecular agitation to potentially destructive cell swelling caused by osmotic pressure gradients. The cell membrane presents a major target of the external mechanical forces that act upon a cell, and mechanosensitive (MS) ion channels play a ...
journal_title：Journal of cell science
pub_type： 杂志文章,评审
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更新日期：2004-05-15 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.02446
更新日期：2005-07-15 00:00:00
abstract：:High endothelial cells lining the post capillary venules in the paracortical areas of rat lymph nodes were found by autoradiography to incorporate [35S]sulphate, whether it was injected into the footpad to reach the draining popliteal lymph node or added to short-term cultures of cervical lymph node slices. The early ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1982-10-01 00:00:00
abstract：:KLP61F in Drosophila and other BimC kinesins are essential for spindle bipolarity across species; loss of BimC function generates high frequencies of monopolar spindles. Concomitant loss of Kar3 kinesin function increases the frequency of bipolar spindles although the underlying mechanism is not known. Recent studies ...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.01334
更新日期：2004-10-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.243733
更新日期：2020-06-04 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1980-06-01 00:00:00
abstract：:Axenically grown cells of D. discoideum Ax-2 harvested in the log phase of growth, cohere rapidly when shaken in phosphate buffer. After 3.5 days in the stationary phase of growth, cells become completely non-cohesive. Although they do not stick to each other, stationary phase cells do stick to both log phase cells an...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1979-06-01 00:00:00
abstract：:Postsynaptic neuronal dendrites undergo functional and morphological changes in response to pathologically excessive synaptic activation. Although rapid formation of segmental focal swelling (varicosity) is the most prominent hallmark in such excitotoxic injury, little is known about the pathophysiological function of...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：2001-11-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章,评审
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更新日期：2016-10-01 00:00:00
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journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1976-08-01 00:00:00
abstract：:The events that accompany sporogenesis in the apogamous fern Dryopteris borreri parallel those seen in sexually reproducing ferns. Organelles dedifferentiate and redifferentiate, and form a discrete band across the equator of dyads; nuclear vacuoles and lipid spherosomes appear during prophase, and the major part of t...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：
更新日期：1983-09-01 00:00:00
abstract：:Rac1 is a small Rho family GTPase that regulates changes in cell morphology associated with cell spreading and migration. Integrin-mediated adhesion is known to activate Rac1 and to regulate the interaction of Rac1 with downstream effectors. Currently, it is not clear how integrins signal Rac1 activation following cel...
journal_title：Journal of cell science
pub_type： 杂志文章
doi：10.1242/jcs.00109
更新日期：2002-11-15 00:00:00
