cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.5281/zenodo.10574013
title: Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus

description: This is supplementary data for the manuscript, "Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus".

Abstract: Schizophrenia is a complex neuropsychiatric disorder with sexually dimorphic features, including differential symptomatology, drug responsiveness, and male incidence rate. Prior large-scale transcriptome analyses for sex differences in schizophrenia have focused on the prefrontal cortex. Analyzing BrainSeq Consortium data (caudate nucleus: n=399, dorsolateral prefrontal cortex: n=377, and hippocampus: n=394), we identified 831 unique genes that exhibit sex differences across brain regions, enriched for immune-related pathways. We observed X-chromosome dosage reduction in the hippocampus of male individuals with schizophrenia. Our sex interaction model revealed 148 junctions dysregulated in a sex-specific manner in schizophrenia. Sex-specific schizophrenia analysis identified dozens of differentially expressed genes, notably enriched in immune-related pathways. Finally, our sex-interacting expression quantitative trait loci analysis revealed 704 unique genes, nine associated with schizophrenia risk. These findings emphasize the importance of sex-informed analysis of sexually dimorphic traits, inform personalized therapeutic strategies in schizophrenia, and highlight the need for increased female samples for schizophrenia analyses.
description: This work is supported by the Lieber Institute for Brain Development, the National Institutes of Health (NIH) T32 fellowship (T32MH015330) and K99 award (K99MD016964) to KJMB, NIH R01 (R01MH123183) to LC-T, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation to JAE.
DOI: 10.5281/zenodo.10887065
title: Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus

description: This is supplementary data and source data for the manuscript, "Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus".

Abstract: Schizophrenia is a complex neuropsychiatric disorder with sexually dimorphic features, including differential symptomatology, drug responsiveness, and male incidence rate. Prior large-scale transcriptome analyses for sex differences in schizophrenia have focused on the prefrontal cortex. Analyzing BrainSeq Consortium data (caudate nucleus: n=399, dorsolateral prefrontal cortex: n=377, and hippocampus: n=394), we identified 831 unique genes that exhibit sex differences across brain regions, enriched for immune-related pathways. We observed X-chromosome dosage reduction in the hippocampus of male individuals with schizophrenia. Our sex interaction model revealed 148 junctions dysregulated in a sex-specific manner in schizophrenia. Sex-specific schizophrenia analysis identified dozens of differentially expressed genes, notably enriched in immune-related pathways. Finally, our sex-interacting expression quantitative trait loci analysis revealed 704 unique genes, nine associated with schizophrenia risk. These findings emphasize the importance of sex-informed analysis of sexually dimorphic traits, inform personalized therapeutic strategies in schizophrenia, and highlight the need for increased female samples for schizophrenia analyses.
description: This work is supported by the Lieber Institute for Brain Development, the National Institutes of Health (NIH) T32 fellowship (T32MH015330) and K99 award (K99MD016964) to KJMB, NIH R01 (R01MH123183) to LC-T, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation to JAE.
DOI: 10.5281/zenodo.7125279
title: Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus

description: This is supplementary data and source data for the manuscript, "Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus".

Abstract: Schizophrenia is a complex neuropsychiatric disorder with sexually dimorphic features, including differential symptomatology, drug responsiveness, and male incidence rate. Prior large-scale transcriptome analyses for sex differences in schizophrenia have focused on the prefrontal cortex. Analyzing BrainSeq Consortium data (caudate nucleus: n=399, dorsolateral prefrontal cortex: n=377, and hippocampus: n=394), we identified 831 unique genes that exhibit sex differences across brain regions, enriched for immune-related pathways. We observed X-chromosome dosage reduction in the hippocampus of male individuals with schizophrenia. Our sex interaction model revealed 148 junctions dysregulated in a sex-specific manner in schizophrenia. Sex-specific schizophrenia analysis identified dozens of differentially expressed genes, notably enriched in immune-related pathways. Finally, our sex-interacting expression quantitative trait loci analysis revealed 704 unique genes, nine associated with schizophrenia risk. These findings emphasize the importance of sex-informed analysis of sexually dimorphic traits, inform personalized therapeutic strategies in schizophrenia, and highlight the need for increased female samples for schizophrenia analyses.
description: This work is supported by the Lieber Institute for Brain Development, the National Institutes of Health (NIH) T32 fellowship (T32MH015330) and K99 award (K99MD016964) to KJMB, NIH R01 (R01MH123183) to LC-T, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation to JAE.
DOI: 10.5281/zenodo.7125280
title: Transcriptional and genetic sex differences for schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus

description: This is supplementary data for the manuscript, "Transcriptional and genetic sex differences for schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus". <strong>Abstract</strong>: Schizophrenia is a complex neuropsychiatric disorder with sexually dimorphic features, including differential symptomatology, drug responsiveness, and male incidence rate. To date, only the prefrontal cortex has been examined in large-scale transcriptome analyses for sex differences in schizophrenia. Here, we examined the BrainSeq Consortium RNA-sequencing and genotypes for the caudate nucleus (n=399), dorsolateral prefrontal cortex (DLPFC; n=377), and hippocampus (n=394) to characterize sex differences in schizophrenia; we do this by identifying genomic features (genes, transcripts, exons, and exon-exon junctions) associated with sex, sex-specific expression in schizophrenia, and sex-interacting expression quantitative trait loci (si-eQTL) associated with schizophrenia risk. We found 878 unique genes with sex differences across brain regions, including <em>ANK3, </em>which shows<em> </em>male-biased expression in the caudate nucleus. X-chromosome dosage was significantly decreased in the hippocampus of male and female schizophrenic individuals. Our sex interaction model revealed 15 novel junctions dysregulated for schizophrenia in a sex-specific manner. Sex-specific schizophrenia analysis identified dozens of expressed, sex-specific features with enrichment in the transcriptional response of cellular stress. Finally, our si-eQTL analysis revealed 974 unique genes, 14 of which are associated with schizophrenia risk. Overall, our results increased the number of annotated sex-biased features, identified sex-specific schizophrenia genes, and provided the first annotation of si-eQTL in the human DLPFC and hippocampus. Altogether, these results point to the importance of sex-informed analysis of sexually dimorphic traits and inform personalized therapeutic strategies in schizophrenia.
description: This work is supported by the Lieber Institute for Brain Development, the National Institutes of Health (NIH) T32 fellowship (T32MH015330) and K99 award (K99MD016964) to KJMB, NIH R01 (R01MH123183) to LC-T, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation to JAE.
DOI: 10.5281/zenodo.8415382
title: How sex affects transcriptional associations with schizophrenia across dorsolateral prefrontal cortex, hippocampus, and caudate nucleus

description: This is supplementary data for the manuscript, <em>"How sex affects transcriptional associations with schizophrenia across dorsolateral prefrontal cortex, hippocampus, and caudate nucleus"</em>. <strong>Abstract</strong>: Schizophrenia is a complex neuropsychiatric disorder with sexually dimorphic features, including differential symptomatology, drug responsiveness, and male incidence rate. To date, only the prefrontal cortex has been studied in large-scale transcriptome analyses for sex differences in schizophrenia. Here, we examined the BrainSeq Consortium RNA-sequencing and genotypes for the caudate nucleus (n=399), dorsolateral prefrontal cortex (DLPFC; n=377), and hippocampus (n=394) to characterize sex differences in schizophrenia. We identified genomic features (genes, transcripts, exons, and exon-exon junctions) associated with sex, sex-specific expression in schizophrenia, and sex-interacting expression quantitative trait loci (si-eQTL) associated with schizophrenia risk. We found 831 unique genes that exhibit sex differences across brain regions, enriched for immune-related pathways. X-chromosome dosage was significantly decreased in the hippocampus of male individuals with schizophrenia. Our sex interaction model revealed 148 junctions dysregulated for schizophrenia in a sex-specific manner. Sex-specific schizophrenia analysis identified dozens of expressed, sex-specific features also with enrichment in immune-related pathways. Finally, our si-eQTL analysis revealed 704 unique genes, nine of which are associated with schizophrenia risk. Overall, our results increased the number of annotated sex-biased features, identified sex-specific schizophrenia genes, and provided the first annotation of si-eQTL in the human DLPFC and hippocampus. Altogether, these results point to the importance of sex-informed analysis of sexually dimorphic traits, inform personalized therapeutic strategies in schizophrenia, and highlight the need for increased female samples for schizophrenia analyses.
description: This work is supported by the Lieber Institute for Brain Development, the National Institutes of Health (NIH) T32 fellowship (T32MH015330) and K99 award (K99MD016964) to KJMB, NIH R01 (R01MH123183) to LC-T, and a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation to JAE.
DOI: 10.15468/dl.qcanv8
title: Occurrence Download

description: A dataset containing 5 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Octarrhena vitellina (Ridl.) Schltr."
 ]
}

 The dataset includes 5 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0057991-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.5cncv4
title: Occurrence Download

description: A dataset containing 85 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Momordica angustisepala Harms"
 ]
}

 The dataset includes 85 records from 27 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0057992-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.k3d4zy
title: Occurrence Download

description: A dataset containing 5 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Neoalsomitra balansae (Gagnep.) Hutch."
 ]
}

 The dataset includes 5 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0057993-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.2xc2gm
title: Occurrence Download

description: A dataset containing 215 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Muscari aucheri (Boiss.) Baker"
 ]
}

 The dataset includes 215 records from 34 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0057994-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.6084/m9.figshare.25511464
title: Figure 3 Raw Data - 2022-10-30 - 1699

description: 2022-10-30 025319 S PH 50x25um-1699cm-1 2mW-TA 87nm-hBNonRuCl-nanspecdata
DOI: 10.6084/m9.figshare.25511464.v1
title: Figure 3 Raw Data - 2022-10-30 - 1699

description: 2022-10-30 025319 S PH 50x25um-1699cm-1 2mW-TA 87nm-hBNonRuCl-nanspecdata
DOI: 10.15468/dl.neybv6
title: Occurrence Download

description: A dataset containing 70 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Octoceras lehmannianum Bunge"
 ]
}

 The dataset includes 70 records from 22 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0057995-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.kpxve5
title: Occurrence Download

description: A dataset containing 479850 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Betula pubescens Ehrh."
 ]
}

 The dataset includes 479850 records from 1233 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0057827-240321170329656/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.6073/pasta/12a0e4923b97574fad62232b5ad79022
title: Jornada Basin LTER Cross-scale Interactions Study (CSIS) Block 6 meteorological station: 5-minute summary wind and air temperature data: 2013 - ongoing

description: This data package contains 5-minute air temperature and wind summary data from Jornada Basin LTER Cross Scale Interactions Study (CSIS) Block-6 met station. Average air temperature, wind speed, and wind direction are measured and calculated at an automated meteorological station connected to a 900 MHz spread spectrum wireless network. Wind speed is measured at 37cm, 75 cm, 150 cm, and 300 cm, wind direction at approximately 3m, and air temperature and relative humidity at approximate 2.5m. This is a subset of baseline weather data collected at the 15 Jornada Basin LTER CSIS study blocks, New Mexico. Measurements are aggregated at intervals of 5, 30, 60 minutes and daily, with precipitation additionally provided with 1 second aggregation during precipitation events. The met station variables measured include air temperature, precipitation, relative humidity, wind direction, wind speed. Precipitation is not measured at Block 1 and Block 12 because of proximity to Block 2 and Block 13, respectively . This is an ONGOING dataset.
DOI: 10.5517/ccdc.csd.cc25yxfh
title: CCDC 2024747: Experimental Crystal Structure Determination

description: Related Article: Takeshi Kuri, Yoshihiko Mizukami, Mio Shimogaki, Morifumi Fujita|2020|Org.Lett.|22|7613|doi:10.1021/acs.orglett.0c02816
DOI: 10.25505/fiz.icsd.cc25mrtd
title: CSD 2014994: Experimental Crystal Structure Determination

description: Related Article: Josie E. Auckett, Matthias J. Gutmann, Ivana Radosavljevic Evans|2020|Inorg.Chem.|59|14245|doi:10.1021/acs.inorgchem.0c02035
DOI: 10.6084/m9.figshare.20018030.v1
title: COVID-19: The question of genetic diversity and therapeutic intervention approaches

description: Abstract Coronavirus disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus type 2 (SARS-CoV-2), is the largest pandemic in modern history with very high infection rates and considerable mortality. The disease, which emerged in China’s Wuhan province, had its first reported case on December 29, 2019, and spread rapidly worldwide. On March 11, 2020, the World Health Organization (WHO) declared the COVID-19 outbreak a pandemic and global health emergency. Since the outbreak, efforts to develop COVID-19 vaccines, engineer new drugs, and evaluate existing ones for drug repurposing have been intensively undertaken to find ways to control this pandemic. COVID-19 therapeutic strategies aim to impair molecular pathways involved in the virus entrance and replication or interfere in the patients’ overreaction and immunopathology. Moreover, nanotechnology could be an approach to boost the activity of new drugs. Several COVID-19 vaccine candidates have received emergency-use or full authorization in one or more countries, and others are being developed and tested. This review assesses the different strategies currently proposed to control COVID-19 and the issues or limitations imposed on some approaches by the human and viral genetic variability.
DOI: 10.6084/m9.figshare.20018031
title: Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia

description: Abstract Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. The presence of α-thalassemia mutations was investigated by gap-PCR, restriction endonucleases analysis and HBA2 and HBA1 genes sequencing, whereas the alpha-MRE haplotypes were investigated by sequencing. We found 55 individuals (32.7%) with α-thalassemia mutations, 51(30.4%) carrying the -α3.7 deletion, one with the -α4.2 deletion and three having the rare punctual mutation HBA2:c.-59C&gt;T. Regarding alpha-MRE analysis, we observed a significant higher frequency of haplotype D, characteristic of African populations, in the sample with the -α3.7 deletion. These results show that α-thalassemia mutations are an important determinant of microcytosis and hypochromia in Uruguayan patients with microcytosis and hypochromia without anemia, mainly due to the -α3.7 deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay.
DOI: 10.6084/m9.figshare.20018031.v1
title: Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia

description: Abstract Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. The presence of α-thalassemia mutations was investigated by gap-PCR, restriction endonucleases analysis and HBA2 and HBA1 genes sequencing, whereas the alpha-MRE haplotypes were investigated by sequencing. We found 55 individuals (32.7%) with α-thalassemia mutations, 51(30.4%) carrying the -α3.7 deletion, one with the -α4.2 deletion and three having the rare punctual mutation HBA2:c.-59C&gt;T. Regarding alpha-MRE analysis, we observed a significant higher frequency of haplotype D, characteristic of African populations, in the sample with the -α3.7 deletion. These results show that α-thalassemia mutations are an important determinant of microcytosis and hypochromia in Uruguayan patients with microcytosis and hypochromia without anemia, mainly due to the -α3.7 deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay.
DOI: 10.6084/m9.figshare.20018034
title: The paradox of autophagy in Tuberous Sclerosis Complex

description: Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by germline mutations in TSC1 or TSC2 genes, which leads to the hyperactivation of the mTORC1 pathway, an important negative regulator of autophagy. This leads to the development of hamartomas in multiple organs. The variability in symptoms presents a challenge for the development of completely effective treatments for TSC. One option is the treatment with mTORC1 inhibitors, which are targeted to block cell growth and restore autophagy. However, the therapeutic effect of rapamycin seems to be more efficient in the early stages of hamartoma development, an effect that seems to be associated with the paradoxical role of autophagy in tumor establishment. Under normal conditions, autophagy is directly inhibited by mTORC1. In situations of bioenergetics stress, mTORC1 releases the Ulk1 complex and initiates the autophagy process. In this way, autophagy promotes the survival of established tumors by supplying metabolic precursors during nutrient deprivation; paradoxically, excessive autophagy has been associated with cell death in some situations. In spite of its paradoxical role, autophagy is an alternative therapeutic strategy that could be explored in TSC. This review compiles the findings related to autophagy and the new therapeutic strategies targeting this pathway in TSC.
DOI: 10.6084/m9.figshare.20018034.v1
title: The paradox of autophagy in Tuberous Sclerosis Complex

description: Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by germline mutations in TSC1 or TSC2 genes, which leads to the hyperactivation of the mTORC1 pathway, an important negative regulator of autophagy. This leads to the development of hamartomas in multiple organs. The variability in symptoms presents a challenge for the development of completely effective treatments for TSC. One option is the treatment with mTORC1 inhibitors, which are targeted to block cell growth and restore autophagy. However, the therapeutic effect of rapamycin seems to be more efficient in the early stages of hamartoma development, an effect that seems to be associated with the paradoxical role of autophagy in tumor establishment. Under normal conditions, autophagy is directly inhibited by mTORC1. In situations of bioenergetics stress, mTORC1 releases the Ulk1 complex and initiates the autophagy process. In this way, autophagy promotes the survival of established tumors by supplying metabolic precursors during nutrient deprivation; paradoxically, excessive autophagy has been associated with cell death in some situations. In spite of its paradoxical role, autophagy is an alternative therapeutic strategy that could be explored in TSC. This review compiles the findings related to autophagy and the new therapeutic strategies targeting this pathway in TSC.