bluuebunny/crossref_metadata_2025_split huggingface dataset:
Immunogenetics of Gastrointestinal Cancers: A Systematic Review of Inborn Errors of Immunity in Humans
Authors: Zheng Beishi , Chung Howard , Bing Chen , Sun Siming , Green Peter H.R. , Wang Timothy C. , Kong Xiao-Fei 
Published: January 2022

AbstractBackground/AimsThe immune system plays a key role in cancer surveillance and modulation of the tumor microenvironment. Humans with inborn errors of immunity (IEI), or primary immunodeficiencies, may be prone to recurrent mucosal bacterial and viral infections and chronic inflammation, associated with intrinsic or secondary epithelium dysfunction, a potential risk factor for early-onset gastrointestinal (GI) cancer.MethodsWe systematically reviewed all cases with clinical diagnoses of both an IEI and a GI cancer in three databases (MEDLINE, SCOPUS, EMBASE). In total, 76 publications satisfying our inclusion criteria were identified, and data for 149 cases were analyzed.ResultsOf the 149 patients with IEIs, 95 presented with gastric cancer, 13 with small bowel cancer, 35 with colorectal cancer, and six with unspecified cancer or cancer at another site. Gastric and colonic adenocarcinoma was the most common. For both gastric and colorectal cancer, age at onset was significantly earlier in patients with IEIs than in the general population, based on the SEER database. Common variable immune deficiency (CVID) was the most common IEI associated with gastrointestinal cancer. About 12% of patients had molecular genetic diagnoses, the three most frequently implicated genes beingATM, CARMIL2, CTLA4. Impaired humoral immunity and Epstein-Barr virus (EBV) infection were frequently reported as the factors potentially underlying early-onset GI malignancy in patients with IEIs.ConclusionPatients with IEIs should be considered at risk of early-onset GI cancers, and should therefore undergo cancer screening at an earlier age. Surveillance guidance based on stratifications for genetic risk should be revised to take into account the immunogenetic contribution to GI cancers.
Multiple Ciliary Localization Signals Control INPP5E Ciliary Targeting
Authors: Cilleros-Rodriguez Dario , Martin-Morales Raquel , Barbeito Pablo , Roy Abhijit Deb , Loukil Abdelhalim , Sierra-Rodero Belen , Herranz Gonzalo , Pampliega Olatz , Redrejo-Rodriguez Modesto , Goetz Sarah C. , Izquierdo Manuel , Inoue Takanari , Garcia-Gonzalo Francesc R. 
Published: January 2022

ABSTRACTPrimary cilia are sensory membrane protrusions whose dysfunction causes diseases named ciliopathies. INPP5E is a ciliary phosphoinositide phosphatase mutated in ciliopathies like Joubert syndrome. INPP5E regulates numerous ciliary functions, such as cilium stability, trafficking, signaling, or exovesicle release. Despite its key ciliary roles, how INPP5E accumulates in cilia remains poorly understood. Herein, we show that INPP5E ciliary targeting requires its folded catalytic domain and is controlled by four ciliary localization signals (CLSs), the first two of which we newly discover: LLxPIR motif (CLS1), W383 (CLS2), FDRxLYL motif (CLS3) and CaaX box (CLS4). We answer two long-standing questions in the field. First, partial redundancy between CLS1 and CLS4 explains why CLS4 is dispensable for ciliary targeting. Second, the essential need for CLS2 on the catalytic domain surface clarifies why CLS3 and CLS4 are together insufficient for ciliary accumulation. Furthermore, we reveal that some Joubert syndrome mutations in INPP5E catalytic domain affect its ciliary targeting, and shed light on the mechanisms of action of each CLS. Thus, we find that CLS2 and CLS3 promote interaction with TULP3 and ARL13B, while downregulating CEP164 binding. On the other hand, CLS4 recruits PDE6D, RPGR and ARL13B, and cooperates with CLS1 in ATG16L1 binding. Lastly, we show INPP5E immune synapse targeting is CLS-independent. Altogether, we reveal unusual complexity in INPP5E ciliary targeting mechanisms, likely reflecting its multiple key roles in ciliary biology.
Potentially prebiotic synthesis of aminoacyl-RNA via a bridging phosphoramidate-ester intermediate
Authors: Roberts Samuel J. , Liu Ziwei , Sutherland John D. 
Published: January 2022

ABSTRACTTranslation according to the genetic code is made possible by selectivity both in aminoacylation of tRNA and in anticodon:codon recognition. In extant biology, tRNAs are selectively aminoacylated by enzymes using high-energy intermediates, but how this might have been achieved prior to the advent of protein synthesis has been a largely unanswered question in prebiotic chemistry. We have now elucidated a novel, prebiotically plausible stereoselective aminoacyl-RNA synthesis which starts from RNA-amino acid phosphoramidates and proceeds via phosphoramidate-ester intermediates which subsequently undergo conversion to aminoacyl-esters by mild acid hydrolysis. The chemistry avoids the intermediacy of high-energy mixed carboxy-phosphate anhydrides and is greatly favored under eutectic conditions, which also potentially allow for the requisite pH fluctuation through the variable solubility of CO2 in solid/liquid water.
Derlin Dfm1 Employs a Chaperone Function to Resolve Misfolded Membrane Protein Stress
Authors: Kandel Rachel , Jung Jasmine , Syau Della , Kuo Tiffany , Songster Livia , Aguayo Analine , Duttke Sascha , Benner Christopher , Neal Sonya 
Published: January 2022

SUMMARYAccumulation of misfolded proteins is a known source of cellular stress and can be detrimental to cellular health. While protein aggregation is a known hallmark of many diseases, the mechanisms by which protein aggregates cause toxicity and the molecular machines that prevent this toxicity are not completely understood. Here, we show that the accumulated misfolded membrane proteins form endoplasmic reticulum (ER) localized aggregates, impacting ubiquitin and proteasome homeostasis. Additionally, we have identified a chaperone ability of the yeast rhomboid pseudoprotease Dfm1 to influence solubilization of misfolded membrane proteins and prevent toxicity from misfolded membrane proteins. We establish that this function of Dfm1 does not require recruitment of the ATPase Cdc48 and it is distinct from Dfm1’s previously identified function in dislocating misfolded membrane proteins to the cytosol for degradation.
Y-box binding protein 1 interacts with dengue virus nucleocapsid and mediates viral assembly
Authors: Diosa-Toro Mayra , Kennedy Debbie R , Chuo Vanessa , Popov Vsevolod L. , Pompon Julien , Garcia-Blanco Mariano A. 
Published: January 2022

AbstractInfection with dengue virus (DENV) induces vast rearrangements of the endoplasmic reticulum, which allows the compartmentalization of viral RNA replication and particle assembly. Both processes occur in concert with viral and cellular proteins. Prior studies from our group suggest that the host RNA-binding protein (RBP) Y-box binding protein 1 (YBX1) is required for a late step in the DENV replication cycle. Here we report that YBX1 interacts with the viral nucleocapsid, distributes to DENV assembly sites and is required for efficient assembly of intracellular infectious virions and their secretion. Genetic ablation of YBX1 decreased the spatial proximity between capsid and envelope, increased the susceptibility of envelope to proteinase-K mediated degradation, resulted in the formation of rough empty-looking particles, and decreased the secretion of viral particles. We propose a model wherein YBX1 enables the interaction between the viral nucleocapsid with the structural protein E, which is required for proper assembly of intracellular virus particles and their secretion.ImportanceThe global incidence of dengue virus (DENV) infections has steadily increased over the past decades representing an enormous challenge for public health. During infection, DENV viral RNA interacts with numerous host RNA binding proteins (RBPs) that aid viral replication and thus constitute potential molecular targets to curb infection. We recently reported that Y-box-binding protein 1 (YBX1) interacts with DENV RNA and is required at a late step of the replication cycle. Here we describe the molecular mechanism by which YBX1 mediates DENV infection. We show that YBX1 interacts with the viral nucleocapsid, distributes to DENV assembly sites and is required for efficient assembly of intracellular infectious virions. These results provide important insights into DENV assembly, revealing novel functions of host RBPs during viral infection and opening new avenues for antiviral intervention.
No evidence from complementary data sources of a direct projection from the mouse anterior cingulate cortex to the hippocampal formation
Authors: Andrianova Lilya , Yanakieva Steliana , Margetts-Smith Gabriella , Kohli Shivali , Brady Erica S , Aggleton John P , Craig Michael T 
Published: January 2022

AbstractThe connectivity and interplay between the prefrontal cortex and hippocampus underpin a number of key cognitive processes, with changes in these interactions being implicated in both neurodevelopmental as well as neurodegenerative conditions. Understanding the precise cellular connections through which this circuit is organised is, therefore, vital for understanding these same processes. Overturning earlier findings, a recent study described a novel excitatory projection from anterior cingulate cortex to hippocampus. We sought to validate this unexpected finding using multiple, complementary methods: anterograde and retrograde anatomical tracing, using both anterograde and retrograde AAVs and monosynaptic rabies tracing. Additionally, an extensive data search of the Allen Projection Brain Atlas database was conducted to find the stated projection within any of the deposited anatomical studies, as an independent verification of our own results. However, we failed to find any evidence of a direct, monosynaptic projection from mouse anterior cingulate cortex to the hippocampus proper.
Leaf functional traits predict shade tolerant tree performance in cloud forest restoration plantings
Authors: Toledo‐Aceves Tarin , Bonilla‐Moheno Martha , Sosa Vinicio J. , López‐Barrera Fabiola , Williams‐Linera Guadalupe 
Published: January 2022

Abstract

Restoration of tropical montane cloud forest (TMCF) landscapes is urgently required. Assisting the regeneration of endangered and shade tolerant tree species is essential for both the recovery of this vulnerable group and of ecological processes. However, there is limited species‐specific information regarding tree performance under different disturbance conditions with which to implement effective interventions.

We assessed the performance of shade tolerant tree seedlings in restoration plantings under different disturbance settings and determined whether leaf mass area (LMA) and leaf dry mass content (LDMC)—functional traits typically associated with resource capture or stress tolerance—could serve as predictors of survival and growth among species. Since conservative leaf morphological traits can maximize survival, we expected species with higher LMA and LDMC to present higher survival. For a set of eight native cloud forest species, a total of 2,202 seedlings were planted in four pastures, five secondary forests and three forests subjected to traditional selective logging, in TMCF landscapes in Eastern Mexico.

Seedling survival was high after 3 years: 62% in pastures, 80% in secondary forests and 88% in logged forests. Growth rates were lowest in pastures, followed by secondary forests and highest in logged forests. LMA was a strong predictor of seedling survival in all of the environments; tree species with higher LMA presented greater survival. LDMC was related to seedling survival in the three environments, although to a lesser extent than LMA. In the pastures, higher LMA and LDMC were linked to lower growth.

Synthesis and applications. This study supports the potential of shade tolerant tree species in restoration efforts to assist the recovery of this important functional group and to accelerate succession across altered environments. Our results support the notion that conservative leaf functional traits are linked to a higher probability of survival, not only in the shaded understorey, but also under high solar radiation in transformed habitats. Leaf mass area (LMA) in particular is a reliable predictor of seedling survival for shade tolerant species. Species selection based on LMA could thus improve restoration initiative outcomes: tree species with high LMA present higher survival probability and can be introduced into pastures, secondary forests and selectively logged forests.
A family study on first episode of psychosis patients: Exploring neuropsychological performance as an endophenotype
Authors: Murillo‐García Nancy , Díaz‐Pons Alexandre , Fernández‐Cacho Luis Manuel , Miguel‐Corredera Margarita , Martínez‐Barrio Sara , Ortiz‐García de la Foz Víctor , Neergaard Karl , Ayesa‐Arriola Rosa 
Published: January 2022

AbstractIntroductionFamily studies provide a suitable approach to analyzing candidate endophenotypes of schizophrenia, including cognitive features.ObjectiveTo characterize different neurocognitive functions in a group of patients with first episode of psychosis (FEP), their first‐degree relatives (parents and siblings), and healthy controls (HC), in order to identify potential endophenotypes for schizophrenia spectrum disorders (SSD).MethodsParticipants were assessed in the context of a national project in Spain called PAFIP‐FAMILIAS. They completed the same neuropsychological battery, which included tests of verbal memory, visual memory, processing speed, working memory, executive functions, motor dexterity, attention, and theory of mind. Group comparisons were performed using one‐way ANOVA, followed by tests of multiple comparisons when appropriate.ResultsOne hundred thirty‐three FEP patients were included, as well as 244 of their first‐degree relatives (146 parents and 98 siblings) and 202 HC. In general, relatives showed an intermediate performance between the HC and the FEP patients in all neurocognitive domains. However, the domains of executive functions and attention stood out, as relatives (especially parents) showed similar performance to FEP patients. This was replicated when selecting patients subsequently diagnosed with schizophrenia and their relatives.ConclusionThese findings suggest that executive and attention dysfunctions might have a family aggregation and could be relevant cognitive endophenotypes for psychotic disorders. The study shows the potential of exploring intra‐family neuropsychological performance supporting neurobiological and genetic research in SSD.
Measurement invariance of organizational citizenship behavior across gender
Authors: Jang Seulki , Allen Tammy D. , Kim Eunsook , O'Brien Kimberly E. , Cho Inchul , Ceylan Savaş 
Published: January 2022

AbstractWe examined the measurement invariance of organizational citizenship behavior (OCB) across employee gender using six different datasets. Based on self‐reported OCB data, we found that two datasets that used the Lee and Allen (2002, 10.1037/0021‐9010.87.1.131) scale with collectivistic and feminine country samples showed scalar invariance across employee gender. However, the other four datasets showed poor model fit in configural invariance. Next, based on supervisor‐reported OCB data, we found poor model fit in configural invariance across employee gender and poor model fit in configural invariance between gender‐matched dyads and gender‐dissimilar dyads. To examine the source of the poor model fit in configural invariance testing, we conducted permutation tests. With the exception of three cases, permutation results suggested that the poor model fit in configural invariance testing originated from poor overall model fit rather than from actual group discrepancy. As supplemental analyses, we revised OCB scales and recommended shortened OCB scales that are likely to meet scalar invariance. The current study uncovers possible psychometric issues related to popular OCB measures, proposes alternative measures, and provides suggestions for OCB‐gender research and practice.
Prevalence of Tritrichomonas foetus in beef bulls slaughtered at two abattoirs in northern Australia
Authors: Irons PC , McGowan M , de Assis PM , Randhawa I , Awawdeh L , Mugwabana J , Barnes TS , Boe‐Hansen G , McCosker K , Fordyce G 
Published: January 2022

Bovine trichomoniasis, caused by the protozoal parasite Tritrichomonas foetus, is a highly contagious venereal disease characterised by early pregnancy loss, abortion and pyometra. Persistently infected bulls and cows are the primary reservoirs of infection in infected herds. This research investigated the prevalence of T. foetus infection in bulls from properties located across northern Australia and New South Wales. Preputial samples were collected from 606 bulls at slaughter and tested for T. foetus using the VetMAX‐Gold Trich Detection Kit (Thermo Fisher Scientific). The apparent prevalence of T. foetus infection varied between regions, with northern regions in the Northern Territory, Queensland and Western Australia showing a prevalence of 15.4%, 13.8% and 11.4%, respectively. There was some evidence of an association between infection and postcode (P = 0.06) and increasing bull age (P = 0.054). This study confirms that T. foetus infection is likely to be present in many beef breeding herds and contributing to lower than expected reproductive performance, particularly across northern Australia.
Impact of the COVID‐19 pandemic on the diagnosis and treatment of men with prostate cancer
Authors: Nossiter Julie , Morris Melanie , Parry Matthew G. , Sujenthiran Arunan , Cathcart Paul , van der Meulen Jan , Aggarwal Ajay , Payne Heather , Clarke Noel W. 
Published: January 2022

ObjectiveTo determine the impact of the COVID‐19 pandemic on diagnostic and treatment activity in 2020 across hospital providers of prostate cancer (PCa) care in the English National Health Service.MethodsDiagnostic and treatment activity between 23 March (start of first national lockdown in England) and 31 December 2020 was compared with the same calendar period in 2019. Patients newly diagnosed with PCa were identified from national rapid cancer registration data linked to other electronic healthcare datasets.ResultsThere was a 30.8% reduction (22 419 vs 32 409) in the number of men with newly diagnosed PCa in 2020 after the start of the first lockdown, compared with the corresponding period in 2019. Men diagnosed in 2020 were typically at a more advanced stage (Stage IV: 21.2% vs 17.4%) and slightly older (57.9% vs 55.9% ≥ 70 years; P < 0.001). Prostate biopsies in 2020 were more often performed using transperineal (TP) routes (64.0% vs 38.2%). The number of radical prostatectomies in 2020 was reduced by 26.9% (3896 vs 5331) and the number treated by external beam radiotherapy (EBRT) by 14.1% (9719 vs 11 309). Other changes included an increased use of EBRT with hypofractionation and reduced use of docetaxel chemotherapy in men with hormone‐sensitive metastatic PCa (413 vs 1519) with related increase in the use of enzalutamide.ConclusionWe found substantial deficits in the number of diagnostic and treatment procedures for men with newly diagnosed PCa after the start of the first lockdown in 2020. The number of men diagnosed with PCa decreased by about one‐third and those diagnosed had more advanced disease. Treatment patterns shifted towards those that limit the risk of COVID‐19 exposure including increased use of TP biopsy, hypofractionated radiation, and enzalutamide. Urgent concerted action is required to address the COVID‐19‐related deficits in PCa services to mitigate their impact on long‐term outcomes.
Graft dysfunction and rejection of lung transplant, a review on diagnosis and management
Authors: Sun Haishuang , Deng Mei , Chen Wenhui , Liu Min , Dai Huaping , Wang Chen 
Published: January 2022

AbstractIntroductionLung transplantation has proven to be an effective treatment option for end‐stage lung disease. However, early and late complications following transplantation remain significant causes of high mortality.ObjectivesIn this review, we focus on the time of onset in primary graft dysfunction and rejection complications, as well as emphasize the role of imaging manifestations and pathological features in early diagnosis, thus assisting clinicians in the early detection and treatment of posttransplant complications and improving patient quality of life and survival.Data sourceWe searched electronic databases such as PubMed, Web of Science, and EMBASE. We used the following search terms: lung transplantation complications, primary graft dysfunction, acute rejection, chronic lung allograft dysfunction, radiological findings, and diagnosis and treatment.ConclusionPrimary graft dysfunction, surgical complications, immune rejection, infections, and neoplasms represent major posttransplant complications. As the main posttransplant survival limitation, chronic lung allograft dysfunction has a characteristic imaging presentation; nevertheless, the clinical and imaging manifestations are often complex and overlap, so it is essential to understand the temporal evolution of these complications to narrow the differential diagnosis for early treatment to improve prognosis.
Experimental evidence for a child‐to‐adolescent switch in human amygdala‐prefrontal cortex communication: A cross‐sectional pilot study
Authors: Gee Dylan G. , Hanson Catherine , Caglar Leyla Roksan , Fareri Dominic S. , Gabard‐Durnam Laurel J. , Mills‐Finnerty Colleen , Goff Bonnie , Caldera Christina J. , Lumian Daniel S. , Flannery Jessica , Hanson Stephen José , Tottenham Nim 
Published: January 2022

AbstractInteractions between the amygdala and prefrontal cortex are fundamental to human emotion. Despite the central role of frontoamygdala communication in adult emotional learning and regulation, little is known about how top‐down control emerges during human development. In the present cross‐sectional pilot study, we experimentally manipulated prefrontal engagement to test its effects on the amygdala during development. Inducing dorsal anterior cingulate cortex (dACC) activation resulted in developmentally‐opposite effects on amygdala reactivity during childhood versus adolescence, such that dACC activation was followed by increased amygdala reactivity in childhood but reduced amygdala reactivity in adolescence. Bayesian network analyses revealed an age‐related switch between childhood and adolescence in the nature of amygdala connectivity with the dACC and ventromedial PFC (vmPFC). Whereas adolescence was marked by information flow from dACC and vmPFC to amygdala (consistent with that observed in adults), the reverse information flow, from the amygdala to dACC and vmPFC, was dominant in childhood. The age‐related switch in information flow suggests a potential shift from bottom‐up co‐excitatory to top‐down regulatory frontoamygdala connectivity and may indicate a profound change in the circuitry supporting maturation of emotional behavior. These findings provide novel insight into the developmental construction of amygdala‐cortical connections and implications for the ways in which childhood experiences may influence subsequent prefrontal function.