The Experts below are selected from a list of 517215 Experts worldwide ranked by ideXlab platform
Henri J L M Timmers - One of the best experts on this subject based on the ideXlab platform.
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clinical presentations biochemical Phenotypes and genotype phenotype correlations in patients with succinate dehydrogenase subunit b associated pheochromocytomas and paragangliomas
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Henri J L M Timmers, Anna Kozupa, Graeme Eisenhofer, Margarita Raygada, Karen T Adams, Daniel Solis, Jacques W M Lenders, Karel PacakAbstract:Context: Mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition of the SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening. Objective: The objective of the study was to assess mutation-specific clinical and biochemical characteristics of SDHB-related PGL. Design: The study design was retrospective descriptive. Patients: Patients included 29 patients (16 males) with SDHB-related abdominal or thoracic PGL. Intervention: There was no intervention. Main Outcome Measures: Clinical presentations, plasma and urine concentrations of catecholamines and O-methylated metabolites, and genotype-phenotype correlations were measured. Results: Mean ± sd age at diagnosis was 33.7 ± 15.7 yr. Tumor-related pain was among the presenting symptoms in 54% of patients and was the sole symptom in 14%. Seventy-six percent had hypertension, and 90% lacked a family history of PGL. All primary tumors but one originated f...
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clinical presentations biochemical Phenotypes and genotype phenotype correlations in patients with succinate dehydrogenase subunit b associated pheochromocytomas and paragangliomas
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Henri J L M Timmers, Anna Kozupa, Graeme Eisenhofer, Margarita Raygada, Karen T Adams, Daniel Solis, Jacques W M Lenders, Karel PacakAbstract:Context Mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition of the SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening. Objective The objective of the study was to assess mutation-specific clinical and biochemical characteristics of SDHB-related PGL. Design The study design was retrospective descriptive. Patients PATIENTS included 29 patients (16 males) with SDHB-related abdominal or thoracic PGL. Intervention There was no intervention. Main outcome measures Clinical presentations, plasma and urine concentrations of catecholamines and O-methylated metabolites, and genotype-phenotype correlations were measured. Results Mean +/- sd age at diagnosis was 33.7 +/- 15.7 yr. Tumor-related pain was among the presenting symptoms in 54% of patients and was the sole symptom in 14%. Seventy-six percent had hypertension, and 90% lacked a family history of PGL. All primary tumors but one originated from extraadrenal locations. Mean +/- sd tumor size was 7.8 +/- 3.7 cm. In this referral-based study, 28% presented with metastatic disease and all but one eventually developed metastases after 2.7 +/- 4.1 yr. Ten percent had additional head and neck PGLs. The biochemical phenotype was consistent with hypersecretion of both norepinephrine and dopamine in 46%, norepinephrine only in 41%, and dopamine only in 3%. Ten percent had normal catecholamine (metabolite) levels, consistent with biochemically silent PGL. No obvious genotype-phenotype correlations were identified. Conclusions SDHB-related PGL often presents as apparently sporadic PGL with symptoms related to tumor mass effect rather than to catecholamine excess. The predominant biochemical phenotype consists of hypersecretion of norepinephrine and/or dopamine, whereas 10% of tumors are biochemically silent. The clinical expression of these tumors cannot be predicted by the genotype.
Karel Pacak - One of the best experts on this subject based on the ideXlab platform.
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clinical presentations biochemical Phenotypes and genotype phenotype correlations in patients with succinate dehydrogenase subunit b associated pheochromocytomas and paragangliomas
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Henri J L M Timmers, Anna Kozupa, Graeme Eisenhofer, Margarita Raygada, Karen T Adams, Daniel Solis, Jacques W M Lenders, Karel PacakAbstract:Context: Mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition of the SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening. Objective: The objective of the study was to assess mutation-specific clinical and biochemical characteristics of SDHB-related PGL. Design: The study design was retrospective descriptive. Patients: Patients included 29 patients (16 males) with SDHB-related abdominal or thoracic PGL. Intervention: There was no intervention. Main Outcome Measures: Clinical presentations, plasma and urine concentrations of catecholamines and O-methylated metabolites, and genotype-phenotype correlations were measured. Results: Mean ± sd age at diagnosis was 33.7 ± 15.7 yr. Tumor-related pain was among the presenting symptoms in 54% of patients and was the sole symptom in 14%. Seventy-six percent had hypertension, and 90% lacked a family history of PGL. All primary tumors but one originated f...
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clinical presentations biochemical Phenotypes and genotype phenotype correlations in patients with succinate dehydrogenase subunit b associated pheochromocytomas and paragangliomas
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Henri J L M Timmers, Anna Kozupa, Graeme Eisenhofer, Margarita Raygada, Karen T Adams, Daniel Solis, Jacques W M Lenders, Karel PacakAbstract:Context Mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition of the SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening. Objective The objective of the study was to assess mutation-specific clinical and biochemical characteristics of SDHB-related PGL. Design The study design was retrospective descriptive. Patients PATIENTS included 29 patients (16 males) with SDHB-related abdominal or thoracic PGL. Intervention There was no intervention. Main outcome measures Clinical presentations, plasma and urine concentrations of catecholamines and O-methylated metabolites, and genotype-phenotype correlations were measured. Results Mean +/- sd age at diagnosis was 33.7 +/- 15.7 yr. Tumor-related pain was among the presenting symptoms in 54% of patients and was the sole symptom in 14%. Seventy-six percent had hypertension, and 90% lacked a family history of PGL. All primary tumors but one originated from extraadrenal locations. Mean +/- sd tumor size was 7.8 +/- 3.7 cm. In this referral-based study, 28% presented with metastatic disease and all but one eventually developed metastases after 2.7 +/- 4.1 yr. Ten percent had additional head and neck PGLs. The biochemical phenotype was consistent with hypersecretion of both norepinephrine and dopamine in 46%, norepinephrine only in 41%, and dopamine only in 3%. Ten percent had normal catecholamine (metabolite) levels, consistent with biochemically silent PGL. No obvious genotype-phenotype correlations were identified. Conclusions SDHB-related PGL often presents as apparently sporadic PGL with symptoms related to tumor mass effect rather than to catecholamine excess. The predominant biochemical phenotype consists of hypersecretion of norepinephrine and/or dopamine, whereas 10% of tumors are biochemically silent. The clinical expression of these tumors cannot be predicted by the genotype.
Georgios Gkoutos - One of the best experts on this subject based on the ideXlab platform.
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the flora phenotype ontology flopo tool for integrating morphological traits and Phenotypes of vascular plants
Journal of Biomedical Semantics, 2016Co-Authors: Robert Hoehndorf, George Gosline, Mona Alshahrani, Georgios Gkoutos, Quentin Groom, Thomas Hamann, Jens Kattge, Sylvia Mota De OliveiraAbstract:The systematic analysis of a large number of comparable plant trait data can support investigations into phylogenetics and ecological adaptation, with broad applications in evolutionary biology, agriculture, conservation, and the functioning of ecosystems. Floras, i.e., books collecting the information on all known plant species found within a region, are a potentially rich source of such plant trait data. Floras describe plant traits with a focus on morphology and other traits relevant for species identification in addition to other characteristics of plant species, such as ecological affinities, distribution, economic value, health applications, traditional uses, and so on. However, a key limitation in systematically analyzing information in Floras is the lack of a standardized vocabulary for the described traits as well as the difficulties in extracting structured information from free text. We have developed the Flora Phenotype Ontology (FLOPO), an ontology for describing traits of plant species found in Floras. We used the Plant Ontology (PO) and the Phenotype And Trait Ontology (PATO) to extract entity-quality relationships from digitized taxon descriptions in Floras, and used a formal ontological approach based on phenotype description patterns and automated reasoning to generate the FLOPO. The resulting ontology consists of 25,407 classes and is based on the PO and PATO. The classified ontology closely follows the structure of Plant Ontology in that the primary axis of classification is the observed plant anatomical structure, and more specific traits are then classified based on parthood and subclass relations between anatomical structures as well as subclass relations between phenotypic qualities. The FLOPO is primarily intended as a framework based on which plant traits can be integrated computationally across all species and higher taxa of flowering plants. Importantly, it is not intended to replace established vocabularies or ontologies, but rather serve as an overarching framework based on which different application- and domain-specific ontologies, thesauri and vocabularies of Phenotypes observed in flowering plants can be integrated.
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Additional file 4 of The flora phenotype ontology (FLOPO): tool for integrating morphological traits and Phenotypes of vascular plants
2016Co-Authors: Robert Hoehndorf, George Gosline, Mona Alshahrani, Georgios Gkoutos, Quentin Groom, Thomas Hamann, Jens Kattge, Sylvia De Oliveira, Marco Schmidt, Soraya SierraAbstract:Flora descriptions. The original descriptions of Salacia erecta, Andropogon chinensis, Oxalis, and Anisopappus chinensis based on which the manual annotation was performed. (PDF 24 kb
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Additional file 2 of The flora phenotype ontology (FLOPO): tool for integrating morphological traits and Phenotypes of vascular plants
2016Co-Authors: Robert Hoehndorf, George Gosline, Mona Alshahrani, Georgios Gkoutos, Quentin Groom, Thomas Hamann, Jens Kattge, Sylvia De Oliveira, Marco Schmidt, Soraya SierraAbstract:Annotation of Floras 2. The file contains the manual annotation of Salacia erecta, Andropogon chinensis, Oxalis, and Anisopappus chinensis. The file includes identified Phenotypes and the mapping to FLOPO. It also highlights missing classes in PATO or PO. (XLSX 36 kb
Antti Iivanainen - One of the best experts on this subject based on the ideXlab platform.
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genetic dissection of canine hip dysplasia Phenotypes and osteoarthritis reveals three novel loci
BMC Genomics, 2019Co-Authors: Lea Mikkola, Saila Holopainen, Tiina Pessamorikawa, Anu K Lappalainen, Marjo K Hytonen, Hannes Lohi, Antti IivanainenAbstract:Hip dysplasia and osteoarthritis continue to be prevalent problems in veterinary and human medicine. Canine hip dysplasia is particularly problematic as it massively affects several large-sized breeds and can cause a severe impairment of the quality of life. In Finland, the complex condition is categorized to five classes from normal to severe dysplasia, but the categorization includes several sub-traits: congruity of the joint, Norberg angle, subluxation degree of the joint, shape and depth of the acetabulum, and osteoarthritis. Hip dysplasia and osteoarthritis have been proposed to have separate genetic etiologies. Using Federation Cynologique Internationale -standardized ventrodorsal radiographs, German shepherds were rigorously phenotyped for osteoarthritis, and for joint incongruity by Norberg angle and femoral head center position in relation to dorsal acetabular edge. The affected dogs were categorized into mild, moderate and severe dysplastic Phenotypes using official hip scores. Three different genome-wide significant loci were uncovered. The strongest candidate genes for hip joint incongruity were noggin (NOG), a bone and joint developmental gene on chromosome 9, and nanos C2HC-type zinc finger 1 (NANOS1), a regulator of matrix metalloproteinase 14 (MMP14) on chromosome 28. Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity. Our findings highlight the complexity of canine hip dysplasia Phenotypes. In particular, the results of this study point to the potential involvement of specific and partially distinct loci and genes or pathways in the development of incongruity, mild dysplasia, moderate-to-severe dysplasia and osteoarthritis of canine hip joints. Further studies should unravel the unique and common mechanisms for the various sub-traits.
Jason Neidleman - One of the best experts on this subject based on the ideXlab platform.
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SARS-CoV-2-Specific T Cells Exhibit Phenotypic Features of Helper Function, Lack of Terminal Differentiation, and High Proliferation Potential.
Cell reports. Medicine, 2020Co-Authors: Jason Neidleman, Xiaoyu Luo, Julie Frouard, Guorui Xie, Gurjot Gill, Ellen Stein, Matthew M. Mcgregor, Ashley F George, Astrid KostersAbstract:Convalescing coronavirus disease 2019 (COVID-19) patients mount robust T cell responses against SARS-CoV-2, suggesting an important role of T cells in viral clearance. To date, the Phenotypes of SARS-CoV-2-specific T cells remain poorly defined. Using 38-parameter CyTOF, we phenotyped longitudinal specimens of SARS-CoV-2-specific CD4+ and CD8+ T cells from nine individuals who recovered from mild COVID-19. SARS-CoV-2-specific CD4+ T cells were exclusively Th1 cells and predominantly Tcm cells with phenotypic features of robust helper function. SARS-CoV-2-specific CD8+ T cells were predominantly Temra cells in a state of less terminal differentiation than most Temra cells. Subsets of SARS-CoV-2-specific T cells express CD127, can proliferate homeostatically, and can persist for over 2 months. Our results suggest that long-lived and robust T cell immunity is generated following natural SARS-CoV-2 infection and support an important role of SARS-CoV-2-specific T cells in host control of COVID-19.
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sars cov 2 specific t cells exhibit phenotypic features reflecting robust helper function lack of terminal differentiation and high proliferative potential
bioRxiv, 2020Co-Authors: Jason Neidleman, Xiaoyu Luo, Julie Frouard, Guorui Xie, Gurjot Gill, Ellen Stein, Matthew McgregorAbstract:ABSTRACT Convalescing COVID-19 patients mount robust T cell responses against SARS-CoV-2, suggesting an important role for T cells in viral clearance. To date, the Phenotypes of SARS-CoV-2-specific T cells remain poorly defined. Using 38-parameter CyTOF, we phenotyped longitudinal specimens of SARS-CoV-2-specific CD4+ and CD8+ T cells from nine individuals who recovered from mild COVID-19. SARS-CoV-2-specific CD4+ T cells were exclusively Th1 cells, and predominantly Tcm with phenotypic features of robust helper function. SARS-CoV-2-specific CD8+ T cells were predominantly Temra cells in a state of less terminal differentiation than most Temra cells. Subsets of SARS-CoV-2-specific T cells express CD127, can homeostatically proliferate, and can persist for over two months. Our results suggest that long-lived and robust T cell immunity is generated following natural SARS-CoV-2 infection, and support an important role for SARS-CoV-2-specific T cells in host control of COVID-19.
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SARS-CoV-2-specific T cells exhibit unique features characterized by robust helper function, lack of terminal differentiation, and high proliferative potential
bioRxiv, 2020Co-Authors: Jason Neidleman, Xiaoyu Luo, Julie Frouard, Guorui Xie, Gurjot Gill, Ellen Stein, Ashley F George, Matthew Mcgregor, Astrid KostersAbstract:Convalescing COVID-19 patients mount robust T cell responses against SARS-CoV-2, suggesting an important role for T cells in viral clearance. To date, the Phenotypes of SARS-CoV-2-specific T cells remain poorly defined. Using 38-parameter CyTOF, we phenotyped longitudinal specimens of SARS-CoV-2-specific CD4+ and CD8+ T cells from four individuals who recovered from mild COVID-19. SARS-CoV-2-specific CD4+ T cells were exclusively Th1 cells, and predominantly Tcm with phenotypic features of robust helper function. SARS-CoV-2-specific CD8+ T cells were predominantly atypical Temra cells in a state of less terminal differentiation and therefore capable of expansion. Subsets of SARS-CoV-2-specific T cells exhibit features of being long-lived and capable of homeostatic proliferation consistent with their persistence for over two months. Our results suggest that long-lived and robust T cell immunity is generated following natural SARS-CoV-2 infection, and support an important role for SARS-CoV-2-specific T cells in host control of COVID-19.
