cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.5123704
title: Supplementary Material for: Idiopathic Membranous Nephropathy: Clinical and Histologic Prognostic Features and Treatment Patterns over Time at a Tertiary Referral Center

description: <b><i>Background:</i></b> Idiopathic membranous nephropathy (i-MN) is a leading cause of nephrotic syndrome in adults and results in end-stage renal disease in approximately one third of patients. There are few large, long-term US studies evaluating clinical and histologic prognostic factors in i-MN. <b><i>Methods:</i></b> We describe 132 patients with biopsy-proven i-MN who were followed for a mean period of 68 months at our tertiary referral center from 1977 to 2009, and we analyzed clinical and histologic features that predicted renal outcomes. <b><i>Results:</i></b> The presence of hypertension and treating physician’s decision to institute immunosuppression were negative predictors of attaining complete or partial remission. Among clinical variables, impaired renal function (eGFR &lt;60 ml/min/1.73 m<sup>2</sup>) at time of presentation was the only variable at presentation associated with an increased risk of reaching end-stage renal disease. The use of statins and RAAS blockers were protective. The choice of corticosteroids as the initial immunosuppressive agent by referring physicians decreased over time but even in the most recent era (2000–2008) was significant (33%). <b><i>Conclusion:</i></b> Renal function at presentation and non-white race were the main predictors of a worse renal outcome. Corticosteroid therapy is still being adopted as first-line therapy in a significant number of patients in this era. The development of guidelines may help clarify the treatment strategies of i-MN.
DOI: 10.6084/m9.figshare.5123707
title: Supplementary Material for: Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

description: Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely described in the literature. In this study, we describe, to our knowledge for the first time, a 5-year-old female patient with intellectual disability who has an unbalanced 10;17 translocation inherited from the father. The girl was diagnosed by subtelomeric FISH and array-CGH, showing a 4.43-Mb heterozygous deletion on chromosome 10p that involved 14 genes and a 3.22-Mb single-copy gain on chromosome 17p, which includes the critical region of the Miller-Dieker syndrome and 61 genes. The patient’s karyotype was established as 46,XX.arr 10p15.3p15.1(138,206–4,574,436)x1,17p13.3(87,009–3,312,600)x3. Because our patient exhibits a combination of 2 imbalances, she has phenotypic features of both chromosome abnormalities, which have been reported separately. Interestingly, the majority of patients who carry the deletion 10p have visual and auditory deficiencies that are attributed to loss of the <i>GATA3</i> gene. However, our patient also presents severe hearing and visual problems even though <i>GATA3</i> is present, suggesting the involvement of different genes that affect the development of the visual and auditory systems.
DOI: 10.6084/m9.figshare.5123710
title: Supplementary Material for: Loud Calls, Startle Behaviour, Social Organisation and Predator Avoidance in Arboreal Langurs (Cercopithecidae: <b><i>Presbytis</i></b>)

description: Linking predator avoidance and social organisation predicts that large groups are favoured under heavy predation pressure but that small, inconspicuous groups may do equally well by avoiding detection altogether. We explored the relationships between antipredator behaviour (vocalisation, concealment, fleeing), detectability (colouration, group size) and social organisation in arboreal langurs. Three clear antipredation conditions emerged: (1) exemplified by <i>Presbytis melalophos</i> – brightly-coloured species (red, yellow) with contrasting colours, living in large unimale-multifemale groups (&gt;10 individuals), that vocalised frequently and that flee loudly through the canopy; (2) exemplified by <i>P. comata</i> – greyish species (some contrasting colours), living in intermediate, unimale-multifemale or 1-male-1-female groups (approx. 7 individuals), that vocalise infrequently and that flee through the middle forest layers; (3) exemplified by <i>P. frontata</i> – dull-coloured species without contrast, living in small unimale-multifemale or 1-male-1-female groups (&lt;5 individuals), that may freeze upon detection, and that may vocalise mainly during the night. Crypsis as an antipredator strategy is restricted to taxa that occur in 1-male-1-female groups. This wide range of antipredator strategies within a monophyletic taxon living in the same general area with a similar suite of predators facing similar predator pressures appears to be unique among the order Primates.
DOI: 10.6084/m9.figshare.5123698
title: Supplementary Material for: Differential Distribution of CYP2A6 and CYP2A13 in the Human Respiratory Tract

description: <b><i>Background:</i></b> Human CYP2A6 and CYP2A13 play important roles in metabolic activation of many pulmonary carcinogens and thus their expression and distribution may determine the pulmonary susceptibility to metabolically activated carcinogens and the following lung cancer development. Because of the 93.5% of amino acid identity between CYP2A6 and CYP2A13, generation of antibodies specific to CYP2A6 or CYP2A13 has limited immunohistochemical (IHC) analysis of CYP2A6 and CYP2A13 levels in the respiratory tract. <b><i>Objectives:</i></b> This study aimed to determine the differential distribution of CYP2A6 and CYP2A13 in human respiratory tissue with IHC analysis. <b><i>Methods:</i></b> With computer-aided protein sequence analyses, candidate epitopes of 15 amino acids in the C-terminal domains of CYP2A6 and CYP2A13 were selected for antibody generation. Specificity of these two antibodies was confirmed with immunoblot and immunofluorescence analyses. With these two selective antibodies, the differential distribution of CYP2A6 and CYP2A13 in human respiratory tissues, including tracheae, bronchi, bronchioles and alveoli, was determined. <b><i>Results:</i></b> IHC results showed that both CYP2A6 and CYP2A13 were markedly expressed in epithelial cells of tracheae and bronchi and that only CYP2A6 was detected in bronchiolar epithelial cells of peripheral lungs. A limitation of the present study is the cross-reactivity of our CYP2A6 antibody to the functional inactive CYP2A7. <b><i>Conclusions:</i></b> The differential distribution patterns of CYP2A6 and CYP2A13 in the respiratory tract are of importance in considering the pulmonary susceptibility to carcinogens and the following lung cancer development.
DOI: 10.6084/m9.figshare.5123698.v1
title: Supplementary Material for: Differential Distribution of CYP2A6 and CYP2A13 in the Human Respiratory Tract

description: <b><i>Background:</i></b> Human CYP2A6 and CYP2A13 play important roles in metabolic activation of many pulmonary carcinogens and thus their expression and distribution may determine the pulmonary susceptibility to metabolically activated carcinogens and the following lung cancer development. Because of the 93.5% of amino acid identity between CYP2A6 and CYP2A13, generation of antibodies specific to CYP2A6 or CYP2A13 has limited immunohistochemical (IHC) analysis of CYP2A6 and CYP2A13 levels in the respiratory tract. <b><i>Objectives:</i></b> This study aimed to determine the differential distribution of CYP2A6 and CYP2A13 in human respiratory tissue with IHC analysis. <b><i>Methods:</i></b> With computer-aided protein sequence analyses, candidate epitopes of 15 amino acids in the C-terminal domains of CYP2A6 and CYP2A13 were selected for antibody generation. Specificity of these two antibodies was confirmed with immunoblot and immunofluorescence analyses. With these two selective antibodies, the differential distribution of CYP2A6 and CYP2A13 in human respiratory tissues, including tracheae, bronchi, bronchioles and alveoli, was determined. <b><i>Results:</i></b> IHC results showed that both CYP2A6 and CYP2A13 were markedly expressed in epithelial cells of tracheae and bronchi and that only CYP2A6 was detected in bronchiolar epithelial cells of peripheral lungs. A limitation of the present study is the cross-reactivity of our CYP2A6 antibody to the functional inactive CYP2A7. <b><i>Conclusions:</i></b> The differential distribution patterns of CYP2A6 and CYP2A13 in the respiratory tract are of importance in considering the pulmonary susceptibility to carcinogens and the following lung cancer development.
DOI: 10.6084/m9.figshare.5123701
title: Supplementary Material for: Accumulation of Multiple Copies of Maize Minichromosomes

description: Multiple copies of B chromosomes in maize <i>(Zea mays)</i> can accumulate in the genome using the B chromosome’s accumulation mechanism, specifically nondisjunction at the second pollen mitosis and preferential fertilization of the egg. Using this mechanism, we accumulated 4 different-sized minichromosomes derived from the B chromosome to test the chromosome limits of the cell. The accumulation of normal B chromosomes is associated with multiple phenotypes including white stripes and asymmetric leaf blades, but when minichromosomes are accumulated these symptoms are absent. We also found that multiple B chromosome-derived minichromosomes can coexist with A chromosome-derived minichromosomes. During the years that these experiments were conducted, we found many B chromosome rearrangements and fragments, 2 recoverable A chromosome fragments, and observed a minichromosome breakage-fusion-bridge cycle in roots.
DOI: 10.6084/m9.figshare.5123707.v1
title: Supplementary Material for: Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

description: Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely described in the literature. In this study, we describe, to our knowledge for the first time, a 5-year-old female patient with intellectual disability who has an unbalanced 10;17 translocation inherited from the father. The girl was diagnosed by subtelomeric FISH and array-CGH, showing a 4.43-Mb heterozygous deletion on chromosome 10p that involved 14 genes and a 3.22-Mb single-copy gain on chromosome 17p, which includes the critical region of the Miller-Dieker syndrome and 61 genes. The patient’s karyotype was established as 46,XX.arr 10p15.3p15.1(138,206–4,574,436)x1,17p13.3(87,009–3,312,600)x3. Because our patient exhibits a combination of 2 imbalances, she has phenotypic features of both chromosome abnormalities, which have been reported separately. Interestingly, the majority of patients who carry the deletion 10p have visual and auditory deficiencies that are attributed to loss of the <i>GATA3</i> gene. However, our patient also presents severe hearing and visual problems even though <i>GATA3</i> is present, suggesting the involvement of different genes that affect the development of the visual and auditory systems.
DOI: 10.6084/m9.figshare.5123710.v1
title: Supplementary Material for: Loud Calls, Startle Behaviour, Social Organisation and Predator Avoidance in Arboreal Langurs (Cercopithecidae: <b><i>Presbytis</i></b>)

description: Linking predator avoidance and social organisation predicts that large groups are favoured under heavy predation pressure but that small, inconspicuous groups may do equally well by avoiding detection altogether. We explored the relationships between antipredator behaviour (vocalisation, concealment, fleeing), detectability (colouration, group size) and social organisation in arboreal langurs. Three clear antipredation conditions emerged: (1) exemplified by <i>Presbytis melalophos</i> – brightly-coloured species (red, yellow) with contrasting colours, living in large unimale-multifemale groups (&gt;10 individuals), that vocalised frequently and that flee loudly through the canopy; (2) exemplified by <i>P. comata</i> – greyish species (some contrasting colours), living in intermediate, unimale-multifemale or 1-male-1-female groups (approx. 7 individuals), that vocalise infrequently and that flee through the middle forest layers; (3) exemplified by <i>P. frontata</i> – dull-coloured species without contrast, living in small unimale-multifemale or 1-male-1-female groups (&lt;5 individuals), that may freeze upon detection, and that may vocalise mainly during the night. Crypsis as an antipredator strategy is restricted to taxa that occur in 1-male-1-female groups. This wide range of antipredator strategies within a monophyletic taxon living in the same general area with a similar suite of predators facing similar predator pressures appears to be unique among the order Primates.
DOI: 10.6084/m9.figshare.5123695
title: Supplementary Material for: Correlation of Cognition and SPECT Perfusion: Easy Z Score and SPM Analysis of a Pilot Sample with Cerebral Small Vessel Disease

description: <b><i>Background/Aims:</i></b> To associate neuropsychology test performance with perfusion on single-photon emission computed tomography (SPECT) among 12 patients with cerebral small vessel disease. <b><i>Methods:</i></b> The easy Z score imaging system (eZIS) was used to compare patient images to those of normal controls. Scores from neuropsychological tests commonly used to screen for dementia were associated with SPECT resting perfusion image values using the statistical parametric mapping (SPM) program. <b><i>Results:</i></b> Immediate Memory and Delayed Memory index scores, as well as memory subtests of the Repeatable Battery for Assessment of Neuropsychological Status showed cluster- and voxelwise positive correlations with hypoperfusion in frontal, temporal and cerebellar regions. Negative correlations, primarily in frontal regions, were interpreted as compensatory hyperperfusion. <b><i>Conclusion:</i></b> eZIS and SPM analyses of SPECT images showed perfusion correlations with neuropsychological tests with small vessel disease.
DOI: 10.6084/m9.figshare.5123701.v1
title: Supplementary Material for: Accumulation of Multiple Copies of Maize Minichromosomes

description: Multiple copies of B chromosomes in maize <i>(Zea mays)</i> can accumulate in the genome using the B chromosome’s accumulation mechanism, specifically nondisjunction at the second pollen mitosis and preferential fertilization of the egg. Using this mechanism, we accumulated 4 different-sized minichromosomes derived from the B chromosome to test the chromosome limits of the cell. The accumulation of normal B chromosomes is associated with multiple phenotypes including white stripes and asymmetric leaf blades, but when minichromosomes are accumulated these symptoms are absent. We also found that multiple B chromosome-derived minichromosomes can coexist with A chromosome-derived minichromosomes. During the years that these experiments were conducted, we found many B chromosome rearrangements and fragments, 2 recoverable A chromosome fragments, and observed a minichromosome breakage-fusion-bridge cycle in roots.
DOI: 10.6084/m9.figshare.5123686
title: Supplementary Material for: Motor Symptoms and Schizophrenia

description: Classical schizophrenia literature reports motor symptoms as characteristic of the disorder. After the introduction of neuroleptic drugs, the existence of genuine motor disorders was challenged. Renewed interest arose as symptoms were found in never-medicated patients. Reports focused on abnormal involuntary movements, parkinsonism, neurological soft signs, catatonia, negative symptoms, or psychomotor slowing. Since these syndromes refer to different concepts, however, the definitions are not congruent and the symptoms overlap. The prevalence rates of motor symptoms in schizophrenia are surprisingly high, and recent studies indicate a possible pathobiology. In particular, the development and maturation of the human motor system appears to be closely linked to the emergence of motor symptoms observed in schizophrenia. Post-mortem and neuroimaging results demonstrated aberrant structure and function of premotor and motor cortices, basal ganglia, thalamus, and the connecting white matter tracts. Animal models have focused on aberrant neurotransmission and genetic contributions. Findings of localized abnormal oligodendrocyte function and myelination point to the special role of the white matter in schizophrenia, and recent studies specifically found an association between motor abnormalities and white matter structure in schizophrenia. This review of the literature supports the idea that motor symptoms are closely related to the neurodevelopmental disturbances of schizophrenia and a distinct syndromal dimension with its own pathophysiology.
DOI: 10.6084/m9.figshare.5123692
title: Supplementary Material for: Gender and Rapid Alterations of Hemispheric Dominance during Planning

description: <b><i>Background:</i></b> Mental planning and carrying out a plan provoke specific cerebral hemodynamic responses. Gender aspects of hemispheric laterality using rapid cerebral hemodynamics have not been reported. <b><i>Method:</i></b> Here, we applied functional transcranial Doppler sonography to examine lateralization of cerebral hemodynamics of the middle cerebral arteries of 28 subjects (14 women and 14 men) performing a standard planning task. There were easy and difficult problems, and mental planning without motor activity was separated from movement execution. <b><i>Results:</i></b> Difficult mental planning elicited lateralization to the right hemisphere after 2 or more seconds, a feature that was not observed during movement execution. In females, there was a dominance to the left hemisphere during movement execution. Optimized problem solving yielded an increased laterality change to the right during mental planning. <b><i>Conclusions:</i></b> Gender-related hemispheric dominance appears to be condition-dependent, and change of laterality to the right may play a role in optimized performance. Results are of relevance when considering laterality from a perspective of performance enhancement of higher cognitive functions, and also of psychiatric disorders with cognitive dysfunctions and abnormal lateralization patterns such as schizophrenia.
DOI: 10.6084/m9.figshare.5123683
title: Supplementary Material for: Cloning and Characterization of Chromosomal Markers from a Cot-1 Library of Peanut (<b><i>Arachis hypogaea</i></b> L.)

description: The cultivated peanut, <i>Arachis hypogaea</i> (AABB, 2n = 40), is an allotetraploid which was probably originated from a hybridization event between 2 ancestors, <i>A. duranensis</i> (A genome) and <i>A. ipaensis</i> (B genome) followed by chromosome doubling. The wild species in the <i>Arachis</i> section are useful genetic resources for genes that confer biotic and abiotic stress resistance for peanut breeding. However, the resource is not well exploited because little information on the genetic, cytogenetic, and phylogenetic relationships between cultivated peanut and its wild relatives is known. Characterization of its chromosome components will benefit the understanding of these issues. But the paucity of information on the DNA sequence and the presence of morphologically similar chromosomes impede the construction of a detailed karyotype for peanut chromosome identification. In our study, a peanut Cot-1 library was constructed to isolate highly and moderately repetitive sequences from the cultivated peanut, and the chromosomal distributions of these repeats were investigated. Both genome and chromosome specific markers were identified that allowed the distinguishing of A and B genomes in tetraploid peanut and a possible karyotyping of peanut chromosomes by FISH. In particular, a 115-bp tandem repetitive sequence was identified to be a possible centromere repetitive DNA, mainly localized in the centromeres of B chromosomes, and a partial retrotransposable element was also identified in the centromeres of B chromosomes. The cloning and characterization of various chromosomal markers is a major step for FISH-based karyotyping of peanut. The FISH markers are expected to provide a reference tool for sequence assembly, phylogenetic studies of peanut and its wild species, and breeding.
DOI: 10.6084/m9.figshare.5123689
title: Supplementary Material for: Analysis of Four Genes Involved in the Neurodevelopment Shows Association of rs4307059 Polymorphism in the Cadherin 9/10 Region with Completed Suicide

description: <b><i>Background:</i></b> We hypothesized that DNA variants affecting neurodevelopment such as rs4307059 <i>(CDH10/CDH9)</i>, rs930752 <i>(NRXN1)</i>, rs6265 <i>(BDNF)</i> or rs10868235 <i>(NTRK2)</i> may predispose to completed suicide. <b><i>Methodology:</i></b> We used a case-control two-stage approach based on a discovery cohort (557 cases and ∼550 controls) and replication cohort (159 cases and 186 controls). The suicides were ascertained as consecutive cases autopsied at the Department of Forensic Medicine, Medical University of Warsaw, Poland. <b><i>Results:</i></b> In the discovery cohort we found an association between suicide and the CC genotype in the rs4307059 polymorphism (OR 1.64, p = 0.012). The trend for an overrepresentation of the CC homozygotes among suicides was replicated in the second cohort (OR 1.97, p = 0.056). Analysis in the pooled cohorts showed that rs4307059 CC was associated with completed suicide (OR 1.71, p = 0.002) also after Bonferroni correction (p<sub>cor.</sub> = 0.024). In an exploratory search for genotype-phenotype correlation we found that males with the rs4307059 CC genotype committed suicide earlier than those with CT/TT genotypes (p = 0.049). <b><i>Conclusions:</i></b> The CC genotype of rs4307059 located in the region between <i>CDH9</i> and <i>CDH10</i> is associated with completed suicide in a Polish cohort.
DOI: 10.6084/m9.figshare.5123692.v1
title: Supplementary Material for: Gender and Rapid Alterations of Hemispheric Dominance during Planning

description: <b><i>Background:</i></b> Mental planning and carrying out a plan provoke specific cerebral hemodynamic responses. Gender aspects of hemispheric laterality using rapid cerebral hemodynamics have not been reported. <b><i>Method:</i></b> Here, we applied functional transcranial Doppler sonography to examine lateralization of cerebral hemodynamics of the middle cerebral arteries of 28 subjects (14 women and 14 men) performing a standard planning task. There were easy and difficult problems, and mental planning without motor activity was separated from movement execution. <b><i>Results:</i></b> Difficult mental planning elicited lateralization to the right hemisphere after 2 or more seconds, a feature that was not observed during movement execution. In females, there was a dominance to the left hemisphere during movement execution. Optimized problem solving yielded an increased laterality change to the right during mental planning. <b><i>Conclusions:</i></b> Gender-related hemispheric dominance appears to be condition-dependent, and change of laterality to the right may play a role in optimized performance. Results are of relevance when considering laterality from a perspective of performance enhancement of higher cognitive functions, and also of psychiatric disorders with cognitive dysfunctions and abnormal lateralization patterns such as schizophrenia.