cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.26509261
title: Source Data Extended Data Figure 5

description: This file contains the source data for Extended Data Figure 5a-f.<b>a,b, </b>Boxplots (<b>a</b>) and heatmaps (<b>b</b>) showing ChIP-seq signal changes of H3K27me3 and H3K27ac at different types of 4C regions (gained, lost and unchanged 4C loops) in EV and DKO cells. The same 4C regions are connected by gray lines in the boxplot. <b>c,d, </b>Boxplots (<b>c</b>) and heatmaps (<b>d</b>) of ChIP-seq signal changes of H3K27me3 and H3K27ac at different types of 4C regions (gained, lost and unchanged 4C loops) in S1KO and DKO cells. The same 4C regions are connected by gray lines in the boxplot. <b>e,f, </b>Boxplots (<b>e</b>) and heatmaps (<b>f</b>) showing ChIP-seq signal changes of H3K27me3 and H3K27ac at different types of 4C regions (gained, lost and unchanged 4C loops) in EV and S1KO cells. The same 4C regions are connected by gray lines in the boxplot. Box and whisker plot: whiskers were extended to the furthest value that is no more than 1.5 times the inter-quartile range. The boxes represent the 25th percentile, median, and 75th percentile. The boxes represent the 25th percentile, median, and 75th percentile (<b>a,c,e</b>); n = 2 biologically independent replicates (<b>a-f</b>); two-sided Wilcoxon Signed-Rank paired test (<b>a,c,e</b>).
DOI: 10.6084/m9.figshare.26509261.v1
title: Source Data Extended Data Figure 5

description: This file contains the source data for Extended Data Figure 5a-f.<b>a,b, </b>Boxplots (<b>a</b>) and heatmaps (<b>b</b>) showing ChIP-seq signal changes of H3K27me3 and H3K27ac at different types of 4C regions (gained, lost and unchanged 4C loops) in EV and DKO cells. The same 4C regions are connected by gray lines in the boxplot. <b>c,d, </b>Boxplots (<b>c</b>) and heatmaps (<b>d</b>) of ChIP-seq signal changes of H3K27me3 and H3K27ac at different types of 4C regions (gained, lost and unchanged 4C loops) in S1KO and DKO cells. The same 4C regions are connected by gray lines in the boxplot. <b>e,f, </b>Boxplots (<b>e</b>) and heatmaps (<b>f</b>) showing ChIP-seq signal changes of H3K27me3 and H3K27ac at different types of 4C regions (gained, lost and unchanged 4C loops) in EV and S1KO cells. The same 4C regions are connected by gray lines in the boxplot. Box and whisker plot: whiskers were extended to the furthest value that is no more than 1.5 times the inter-quartile range. The boxes represent the 25th percentile, median, and 75th percentile. The boxes represent the 25th percentile, median, and 75th percentile (<b>a,c,e</b>); n = 2 biologically independent replicates (<b>a-f</b>); two-sided Wilcoxon Signed-Rank paired test (<b>a,c,e</b>).
DOI: 10.6084/m9.figshare.24973017
title: Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females

description: We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alport-related genes. Clinical examination includes ocular biomicroscopy, fundus photography, optical coherence tomography, dipstick urinalysis, serum creatinine assessment, and molecular genetic analysis. The proband, her mother, and her maternal grandmother had normal best-corrected visual acuity and normal visual fields in both eyes. The macula presented a petaloid stair-case profile with scarce vessels in both eyes of the proband and a flat temporal macula lacking a foveal avascular zone in her mother and her grandmother. No family member had renal symptoms, unexplained subnormal hearing, or lenticonus. Sequencing and MLPA found no defect in <i>COL4A3</i>, <i>COL4A4</i>, and <i>COL4A5</i>. Common SNPs around the genes ± 1Mb showed no segregation. Furthermore, none of the variants shared between the affected individuals in genes from a gene panel of genes relevant for ophthalmopathy nor whole exome- and genome sequencing explained the phenotype. A new condition with two retinal Alport-like phenotypes was found. No abnormalities of the kidneys and lens were found, neither abnormalities of the type IV collagen genes related to Alport syndrome. Homology with retinal abnormalities seen in patients after surgical removal of the inner limiting membrane of the retina suggests that this is where the defect is located. We therefore suggest that the new retinal phenotypes and similar phenotypes can be described with the new definition “frail inner limiting membrane maculopathy.”
DOI: 10.6084/m9.figshare.24973017.v1
title: Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females

description: We report a three-generation family with isolated Alport-like retinal abnormalities in the absence of lenticonus, hearing loss, kidney disease, and detectable molecular genetic defects in known Alport-related genes. Clinical examination includes ocular biomicroscopy, fundus photography, optical coherence tomography, dipstick urinalysis, serum creatinine assessment, and molecular genetic analysis. The proband, her mother, and her maternal grandmother had normal best-corrected visual acuity and normal visual fields in both eyes. The macula presented a petaloid stair-case profile with scarce vessels in both eyes of the proband and a flat temporal macula lacking a foveal avascular zone in her mother and her grandmother. No family member had renal symptoms, unexplained subnormal hearing, or lenticonus. Sequencing and MLPA found no defect in <i>COL4A3</i>, <i>COL4A4</i>, and <i>COL4A5</i>. Common SNPs around the genes ± 1Mb showed no segregation. Furthermore, none of the variants shared between the affected individuals in genes from a gene panel of genes relevant for ophthalmopathy nor whole exome- and genome sequencing explained the phenotype. A new condition with two retinal Alport-like phenotypes was found. No abnormalities of the kidneys and lens were found, neither abnormalities of the type IV collagen genes related to Alport syndrome. Homology with retinal abnormalities seen in patients after surgical removal of the inner limiting membrane of the retina suggests that this is where the defect is located. We therefore suggest that the new retinal phenotypes and similar phenotypes can be described with the new definition “frail inner limiting membrane maculopathy.”
DOI: 10.6084/m9.figshare.24515767
title: An overview of <i>RB1</i> transcript alterations detected during retinoblastoma genetic screening

description: Identification of pathogenic <i>RB1</i> variants aids in the clinical management of families with retinoblastoma. We routinely screen DNA for <i>RB1</i> variants, but transcript analysis can also be used for variant screening, and to help decide variant pathogenicity. DNA was screened by conformation analysis followed by Sanger sequencing. Large deletion/insertions were detected by polymorphism analysis, MLPA and quantitative-PCR. Methylation-specific PCR was used to detect hypermethylation. RNA screening was performed when a DNA pathogenic variant was missing, or to determine effects on splicing. Two hundred and thirteen small coding variants were predicted to affect splicing in 207 patients. Splice donor (sd) variants were nearly twice as frequent as splice acceptor (sa) with the most affected positions being sd + 1 and sa−1. Some missense and nonsense codons altered splicing, while some splice consensus variants did not. Large deletion/insertions can disrupt splicing, but RNA analysis showed that some of these are more complex than indicated by DNA testing. RNA screening found pathogenic variants in 53.8% of samples where DNA analysis did not. <i>RB1</i> splicing is altered by changes at consensus splice sites, some missense and nonsense codons, deep intronic changes and large deletion/insertions. Common alternatively spliced transcripts may complicate analysis. An effective molecular screening strategy would include RNA analysis to help determine pathogenicity.
DOI: 10.6084/m9.figshare.24515767.v1
title: An overview of <i>RB1</i> transcript alterations detected during retinoblastoma genetic screening

description: Identification of pathogenic <i>RB1</i> variants aids in the clinical management of families with retinoblastoma. We routinely screen DNA for <i>RB1</i> variants, but transcript analysis can also be used for variant screening, and to help decide variant pathogenicity. DNA was screened by conformation analysis followed by Sanger sequencing. Large deletion/insertions were detected by polymorphism analysis, MLPA and quantitative-PCR. Methylation-specific PCR was used to detect hypermethylation. RNA screening was performed when a DNA pathogenic variant was missing, or to determine effects on splicing. Two hundred and thirteen small coding variants were predicted to affect splicing in 207 patients. Splice donor (sd) variants were nearly twice as frequent as splice acceptor (sa) with the most affected positions being sd + 1 and sa−1. Some missense and nonsense codons altered splicing, while some splice consensus variants did not. Large deletion/insertions can disrupt splicing, but RNA analysis showed that some of these are more complex than indicated by DNA testing. RNA screening found pathogenic variants in 53.8% of samples where DNA analysis did not. <i>RB1</i> splicing is altered by changes at consensus splice sites, some missense and nonsense codons, deep intronic changes and large deletion/insertions. Common alternatively spliced transcripts may complicate analysis. An effective molecular screening strategy would include RNA analysis to help determine pathogenicity.
DOI: 10.15468/dl.mfb4ef
title: Occurrence Download

description: A dataset containing 276689 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Nyctalus leisleri (Kuhl, 1817)",
 "HasCoordinate is true",
 "Year is greater than or equal to 2011",
 "Year is less than or equal to 2024"
 ]
}

 The dataset includes 276689 records from 2954 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0053858-240626123714530/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.71795/kegv-7434
title: FISH Evidence Thesaurus
DOI: 10.13144/lil-0281
title: Impôt sur le revenu dans les communes de France métropolitaine - 1999

description: Présentation du nombre de foyers fiscaux, du montant de l'impôt, du revenu net moyen des foyers fiscaux de France métropolitaine au niveau communal. Les données datées d'une année n correspondent à la taxation des revenus de l'année n, à la date du 31 décembre n+1. Les contribuables ayant leur domicile fiscal en France métropolitaine au niveau communal sont : - les personnes qui ont leur foyer ou leur lieu de séjour principal dans une commune française, - celles qui exercent en France le centre de leurs intérêts économiques, - les agents de l'Etat qui exercent leurs fonctions dans un pays étranger où ils ne sont pas soumis à un impôt personnel sur leurs revenus.
DOI: 10.13144/lil-0284b
title: Santé (version FPR) - 2002-2003

description: 4ème Enquête d'une série initiée en 1970 l'enquête Santé 2002-2003 se propose, à titre principal : - de décrire l'état de santé de la population enquêtée : morbidité déclarée et indicateurs de santé, - de fournir les éléments quantitatifs nécessaires à l'estimation de la consommation de soins et de prévention (en volume et en valeur), - de permettre d'associer aux états de santé et aux consommations de soins et de prévention, les données socio-démographiques caractérisant les individus et les ménages enquêtés. Cette enquête tend cependant cette fois-ci, tout en gardant possibles les comparaisons avec les enquêtes précédentes, à se rapprocher des autres enquêtes européennes, notamment dans son contenu santé, sensiblement plus fourni que précédemment. Par ailleurs, cette enquête comprend la réalisation d'extensions spécifiques : 'extensions régionales' (Nord-Pas de Calais, Picardie, Champagne-Ardenne, Ile de France, Provence-Alpes-Cote d'Azur), extension 'usage des fichiers administratifs de remboursement des soins', extension 'examen de santé'. L'enquête comporte trois visites espacées d'un mois chez le ménage enquêté. Les questionnaires sont organisés autour des thèmes suivants : 1ère visite : Le ménage (variables socio-démographiques), logement et aides, revenus. - Protection sociale des individus composant le ménage ; - Gênes et handicaps des individus composant le ménage ; - Questions individuelles sur les maladies et les problèmes de santé ; - Recours au médecin et hospitalisations dans les 12 mois qui précèdent ; Par ailleurs, un auto-questionnaire santé ('santé perçue', 'dépression', 'asthme et problèmes respiratoires', 'migraine', 'lombalgies', 'événements au cours de la vie', 'conditions de travail') est remis aux plus de 17 ans. Des versions allégées de l'auto-questionnaire sont remises aux 11-14 ans et aux 15-17 ans. 2ème et 3ème visite : Actualisation de la liste des maladies ou problèmes de santé déclarés en première visite (oublis, nouvelles maladies ou nouveaux problèmes de santé) et description de chacun des items composant la liste) - Les antécédents chirurgicaux, les interruptions d'activité au cours de la vie ; - Les interruptions d'activité et les alitements sur la période - Les consommations sur la période (hospitalisation, médecin, biologie, actes diagnostiques, actes paramédicaux, autres actes en rapport avec la santé, médicaments et autres produits à usage santé) ; - Incapacité ; - Habitudes alimentaires et prévention.
DOI: 10.13144/lil-0290
title: Répertoire des entreprises contrôlées majoritairement par l'État - 1987

description: Chaque entreprise est décrite par son numero de SIRENE, son nom, son adresse, sa catégorie juridique et son APE détaillées. La localisation est donnée par le code postal uniquement. En 1987 l'Etat contrôle 1990 entreprises (non compris Poste et France Telecom) employant 1 435 000 personnes.
DOI: 10.15468/dl.wz6n3t
title: Occurrence Download

description: A dataset containing 0 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Sphenisciformes",
 "HasCoordinate is true",
 "Country is Japan",
 "HasGeospatialIssue is false"
 ]
}

 The dataset includes 0 records from 0 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0255530-220831081235567/datasets/export for details.
DOI: 10.15468/dl.7hnff9
title: Occurrence Download

description: A dataset containing 50 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Justicia miguelii V.A.W.Graham"
 ]
}

 The dataset includes 50 records from 16 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0260444-230224095556074/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.jpwmpz
title: Occurrence Download

description: A dataset containing 349 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Gonipterus platensis (Marelli, 1926)"
 ]
}

 The dataset includes 349 records from 13 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0238638-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.xjgbx6
title: Occurrence Download

description: A dataset containing 6 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Justicia modesta (Bremek.) V.A.W.Graham"
 ]
}

 The dataset includes 6 records from 3 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0260448-230224095556074/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.ebjqpr
title: Occurrence Download

description: A dataset containing 82 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Moraea moggii N.E.Br."
 ]
}

 The dataset includes 82 records from 11 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0043540-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.r2335h
title: Occurrence Download

description: A dataset containing 40 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Justicia nevlingii Wassh. & T.F.Daniel"
 ]
}

 The dataset includes 40 records from 13 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0260465-230224095556074/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.zb7s4n
title: Occurrence Download

description: A dataset containing 508 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Moraea neglecta G.J.Lewis"
 ]
}

 The dataset includes 508 records from 14 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0043549-230530130749713/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.k2jqc2
title: Occurrence Download

description: A dataset containing 63054 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Country is Belgium",
 "TaxonKey is one of (Aponogeton distachyos L.f., Cabomba caroliniana A.Gray, Cherax destructor Clark, 1936, Crassula helmsii (Kirk) Cockayne, Egeria densa Planch., Erythranthe guttata (DC.) G.L.Nesom, Faxonius immunis (Hagen, 1870), Faxonius juvenilis (Hagen, 1870), Faxonius rusticus (Girard, 1852), Faxonius virilis (Hagen, 1870), Heracleum mantegazzianum Sommier & Levier, Heracleum persicum Desf. ex Fisch., C.A.Mey. & Avé-Lall., Heracleum sosnowskyi Manden., Houttuynia cordata Thunb., Hydrocotyle ranunculoides L.f., Impatiens glandulifera Royle, Koenigia polystachya (Wall. ex Meisn.) T.M.Schust. & Reveal, Lagarosiphon major (Ridl.) Moss, Ludwigia grandiflora (Michx.) Greuter & Burdet, Ludwigia peploides (Kunth) P.H.Raven, Lysichiton americanus Hultén & H.St.John, Myriophyllum aquaticum (Vell.) Verdc., Myriophyllum heterophyllum Michx., Petasites japonicus (Siebold & Zucc.) Maxim., Pontederia cordata L., Procambarus acutus (Girard, 1852), Procambarus clarkii (Girard, 1852), Procambarus virginalis Lyko, 2017, Saururus cernuus L., Zizania latifolia (Griseb.) Stapf)",
 "OccurrenceStatus is Present"
 ]
}

 The dataset includes 63054 records from 62 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0231128-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.wsdtws
title: Occurrence Download

description: A dataset containing 3278 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is one of (Acer hyrcanum subsp. stevenii (Pojark.) A.E.Murray, Acer lobelii Ten., Acer monspessulanum L., Acer monspessulanum subsp. loscosii (Rouy) P.Fourn., Acer monspessulanum subsp. monspessulanum, Acer negundo L., Acer obtusatum Waldst. & Kit. ex Willd., Acer obtusatum subsp. neapolitanum (Ten.) Pax, Acer obtusatum subsp. obtusatum, Acer opalus Mill.)",
 "BasisOfRecord is one of (Human Observation, Observation, Machine Observation)",
 "Country is Germany",
 "OccurrenceStatus is Present",
 "HasCoordinate is true",
 "CoordinateUncertaintyInMeters is less than or equal to 250",
 "HasGeospatialIssue is false",
 "Year is greater than or equal to 2013"
 ]
}

 The dataset includes 3278 records from 7 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0277809-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.mvke45
title: Occurrence Download

description: A dataset containing 660 species occurrences available in GBIF matching the query:
{
 "and" : [
 "DatasetKey is Peces pelágicos de la Isla Cayo Serrana durante la Expedición Seaflower 2016 - Proyecto Colombia BIO"
 ]
}

 The dataset includes 660 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0231617-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.yv4pu7
title: Occurrence Download

description: A dataset containing 195 species occurrences available in GBIF matching the query:
{
 "and" : [
 "BasisOfRecord is Specimen",
 "DatasetKey is RBINS DaRWIN",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Lissotriton helveticus (Razoumovsky, 1789)"
 ]
}

 The dataset includes 195 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0277816-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.gdatke
title: Occurrence Download

description: A dataset containing 839 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Gynura japonica (Thunb.) Juel"
 ]
}

 The dataset includes 839 records from 54 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0234802-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.a7zux4
title: Occurrence Download

description: A dataset containing 2301 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Habenaria parviflora Lindl."
 ]
}

 The dataset includes 2301 records from 135 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0236382-230224095556074/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.aptuys
title: Occurrence Download

description: A dataset containing 39 species occurrences available in GBIF matching the query:
{
 "and" : [
 "BasisOfRecord is Specimen",
 "DatasetKey is Museum of Comparative Zoology, Harvard University",
 "HasCoordinate is true",
 "HasGeospatialIssue is false",
 "OccurrenceStatus is Present",
 "TaxonKey is Lissotriton helveticus (Razoumovsky, 1789)"
 ]
}

 The dataset includes 39 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0277820-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.qf9k9n
title: Occurrence Download

description: A dataset containing 146 species occurrences available in GBIF matching the query:
{
 "and" : [
 "DatasetKey is Tortugas marinas de la Isla Cayos de Serranilla durante la Expedición Seaflower 2017 - Proyecto Colombia BIO"
 ]
}

 The dataset includes 146 records from 1 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0231613-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.6undtp
title: Occurrence Download

description: A dataset containing 140 species occurrences available in GBIF matching the query:
{
 "and" : [
 "Country is one of (Japan, China, Korea, Republic of, Thailand)",
 "DatasetKey is one of (Fish Collection of Hokkaido University, Fish collection of National Museum of Nature and Science, SIO Marine Vertebrate Collection)",
 "OccurrenceStatus is Present",
 "TaxonKey is Thamnaconus modestus (Günther, 1877)"
 ]
}

 The dataset includes 140 records from 3 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0235114-220831081235567/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.