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Article ; Online: DIAGNÓSTICO DE NIVELES Y TIPOS DE PREGUNTAS FORMULADOS POR ESTUDIANTES DE GRADO CUARTO DEL COLEGIO RURAL JOSE CELESTINO MUTIS I.E.D.

Yulieth Nayive Romero Rincón / Gloria Elvira Pulido Serrano

Bio-grafía, Vol 0, Iss 0, Pp 1769-

2015 Volume 1780

Abstract: ... del colegio Rural José Celestino Mutis I.E.D.” La investigación surgió frente a la problemática de los bajos ...

Abstract	Este escrito corresponde a los resultados parciales de la investigación adelantada en la Maestría en Pedagogía de la Universidad de la Sabana, titulada “Incidencia de las rutinas de pensamiento en el fortalecimiento de habilidades científicas: Observar y preguntar en los estudiantes de grado cuarto, ciclo II del colegio Rural José Celestino Mutis I.E.D.” La investigación surgió frente a la problemática de los bajos resultados en el campo de pensamiento ciencia y tecnología, sustentados al interior de la institución y en los resultados de la prueba saber ICFES (2013). Cuyo indicador refiere que la mayoría de los estudiantes de la institución se ubican dentro del nivel de desempeño insuficiente (26%) y mínimo (53%), encontrándose por debajo de los niveles de Bogotá y del país. Aunado a los pocos estudiantes que se encuentran dentro del nivel satisfactorio (16%) y avanzado (5%). De igual modo, se plantea que la institución es débil en el uso comprensivo del conocimiento científico, en la explicación de fenómenos y similar en indagación a instituciones que obtuvieron puntajes parecidos. También surge del interés de las docentes por establecer un punto de partida que ayude a fortalecer las habilidades del pensamiento científico. Por tal motivo, en el presente escrito se pretende presentar los hallazgosencontrados en la primera fase de la investigación, la cual se centró en la realización de un diagnóstico para identificar los niveles de observación y tipos de preguntas que formulan y plantean los estudiantes de grado cuarto de la institución. La investigación tiene un enfoque cualitativo, desde la investigación acción participación, cuya población fueron 32 estudiantes de grado cuarto.
Keywords	Science ; Q ; Biology (General) ; QH301-705.5
Language	Spanish
Publishing date	2015-12-01T00:00:00Z
Publisher	Universidad Pedagógica Nacional
Document type	Article ; Online
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Article ; Online: Factores precipitantes de crisis o estado epiléptico en adultos bajo control en el servicio de urgencias hospitales de San José e Infantil Universitario de San José, Bogotá DC. noviembre 2011-mayo 2012

Leonardo Hemández / Adriana Lucía Suárez Lemas / Ana Carolina Pulido

Repertorio de Medicina y Cirugía, Vol 21, Iss

2012 Volume 4

Abstract: Propósito: describir los factores precipitantes de crisis o estado epiléptico en adultos con epilepsia contro lada y determinar las características de las variables sociodemográficas y clínicas. Materiales y métodos: estudio descriptivo con 139 mayores ... ...

Abstract	Propósito: describir los factores precipitantes de crisis o estado epiléptico en adultos con epilepsia contro lada y determinar las características de las variables sociodemográficas y clínicas. Materiales y métodos: estudio descriptivo con 139 mayores de 15 años que ingresaron en forma consecutiva por crisis convulsivas o estado epiléptico a urgencias de dos hospitales de Bogotá DC. Resultados: la edad media fue 40±20 años (RIQ 22-53), 77% tenían epilepsia focal y 23% primaria generalizada; 63% reportó al menos un factor precipitante de crisis, cuya frecuencia fue: suspensión del anticonvulsivante (36.3%), privación de sueño (33%), síntomas infecciosos (26.1%), estrés (17%), disminución de dosis de anticonvulsivante(s) (13.6%), ingestión de licor (8%), inicio de otros fármacos (5.6%), consumo de sustancias psicoactivas y exposición a luces intermitentes (1.1 %). Conclusiones: un alto porcentaje de epilépticos considera que uno o más fac tores precipitantes desencadenan sus crisis, con algunas variaciones en el orden de frecuencia en nuestro contexto cultural y social con respecto a otros estudios realizados, lo cual debe tenerse en cuenta al dar información al paciente pues debe recordarse que la intervención del comportamiento puede contribuir a la terapia logrando reducción de la frecuencia ictal.
Keywords	epilepsia ; crisis epiléptica ; factores precipitantes ; convulsiones ; estado epiléptico ; Medicine (General) ; R5-920
Language	English
Publishing date	2012-12-01T00:00:00Z
Publisher	Fundación Univrsitaria de Ciencias de la Salud
Document type	Article ; Online
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Article ; Online: Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.

Torices, Leire / Nunes-Xavier, Caroline E / López, José I / Pulido, Rafael

PloS one

2023 Volume 18, Issue 8, Page(s) e0289369

Abstract: PTEN is a major tumor suppressor gene frequently mutated in human tumors, and germline PTEN gene mutations are the molecular diagnostic of PTEN Hamartoma Tumor Syndrome (PHTS), a heterogeneous disorder that manifests with multiple hamartomas, cancer ... ...

Abstract	PTEN is a major tumor suppressor gene frequently mutated in human tumors, and germline PTEN gene mutations are the molecular diagnostic of PTEN Hamartoma Tumor Syndrome (PHTS), a heterogeneous disorder that manifests with multiple hamartomas, cancer predisposition, and neurodevelopmental alterations. A diversity of translational and splicing PTEN isoforms exist, as well as PTEN C-terminal truncated variants generated by disease-associated nonsense mutations. However, most of the available anti-PTEN monoclonal antibodies (mAb) recognize epitopes at the PTEN C-terminal tail, which may introduce a bias in the analysis of the expression of PTEN isoforms and variants. We here describe the generation and precise characterization of anti-PTEN mAb recognizing the PTEN C2-domain, and their use to monitor the expression and function of PTEN isoforms and PTEN missense and nonsense mutations associated to disease. These anti-PTEN C2 domain mAb are suitable to study the pathogenicity of PTEN C-terminal truncations that retain stability and function but have lost the PTEN C-terminal epitopes. The use of well-defined anti-PTEN mAb recognizing distinct PTEN regions, as the ones here described, will help to understand the deleterious effects of specific PTEN mutations in human disease.
MeSH term(s)	Humans ; Codon, Nonsense ; C2 Domains ; PTEN Phosphohydrolase/genetics ; PTEN Phosphohydrolase/metabolism ; Neoplasms ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Germ-Line Mutation ; Epitopes ; Antibodies, Monoclonal/genetics
Chemical Substances	Codon, Nonsense ; PTEN Phosphohydrolase (EC 3.1.3.67) ; Protein Isoforms ; Epitopes ; Antibodies, Monoclonal
Language	English
Publishing date	2023-08-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0289369
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Article ; Online: Osteogenic organoid for bone regeneration: Healing of bone defect in congenital pseudoarthrosis of the tibia.

Cardier, Jose E / Diaz-Solano, Dylana / Wittig, Olga / Sierra, Giuseppe / Pulido, Jose / Moreno, Rita / Fuentes, Soraima / Leal, Fredy

The International journal of artificial organs

2024 Volume 47, Issue 2, Page(s) 107–114

Abstract: Background: Congenital pseudoarthrosis of the tibia (CPT) is an uncommon disease associated with failure to achieve bone union and recurrent fractures. There is evidence showing that CPT is associated with decreased osteogenesis. Based on the capacity ... ...

Abstract	Background: Congenital pseudoarthrosis of the tibia (CPT) is an uncommon disease associated with failure to achieve bone union and recurrent fractures. There is evidence showing that CPT is associated with decreased osteogenesis. Based on the capacity of mesenchymal stromal cells (MSCs) to induce osteogenesis, we develop an osteogenic organoid (OstO) constituted by these cells, and other components of the bone niche, for inducing bone formation in a child diagnosed with CPT. Aim: To evaluate the capacity of an OstO to induce bone formation in a patient with CPT. Methods: The OstO was fabricated with allogeneic bone marrow MSCs from a healthy donor, collagen microbeads (CM) and PRP clot. The CM and PRP function as extracellular matrix and scaffolds for MSC. The OstO was placed at the site of non-union. Internal and external fixation was placed in the tibia. Radiological evaluation was performed after MSCs transplantation. Results: After 4 months of MSCs transplantation, radiographic imaging showed evidence of osteogenesis at the site of CPT lesion. The tibia showed bone consolidation and complete healing of the non-union CPT lesion after 6 months. Functional improvement was observed after 1 year of MSC transplantation. Conclusions: The OstO is a bone-like niche which promote osteogenesis in patients with failure in bone formation, such as CPT. To our knowledge, these results provide the first evidence showing CPT healing induced by an OstO constituted by allogeneic MSCs. Future studies incorporating a larger number of patients may confirm these results.
MeSH term(s)	Child ; Humans ; Osteogenesis ; Tibia/diagnostic imaging ; Tibia/surgery ; Tibia/abnormalities ; Bone Regeneration ; Collagen ; Organoids ; Cell Differentiation ; Pseudarthrosis/congenital
Chemical Substances	Collagen (9007-34-5)
Language	English
Publishing date	2024-01-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	80456-3
ISSN	1724-6040 ; 0391-3988
ISSN (online)	1724-6040
ISSN	0391-3988
DOI	10.1177/03913988231220844
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Article ; Online: Initial Investigations of Intrinsically Disordered Regions in Inherited Retinal Diseases.

Lee, Karen E / Procopio, Rebecca / Pulido, Jose S / Gunton, Kammi B

International journal of molecular sciences

2023 Volume 24, Issue 2

Abstract: Intrinsically disordered regions (IDRs) are protein regions that are unable to fold into stable tertiary structures, enabling their involvement in key signaling and regulatory functions via dynamic interactions with diverse binding partners. An ... ...

Abstract	Intrinsically disordered regions (IDRs) are protein regions that are unable to fold into stable tertiary structures, enabling their involvement in key signaling and regulatory functions via dynamic interactions with diverse binding partners. An understanding of IDRs and their association with biological function may help elucidate the pathogenesis of inherited retinal diseases (IRDs). The main focus of this work was to investigate the degree of disorder in 14 proteins implicated in IRDs and their relationship with the number of pathogenic missense variants. Metapredict, an accurate, high-performance predictor that reproduces consensus disorder scores, was used to probe the degree of disorder as a function of the amino acid sequence. Publicly available data on gnomAD and ClinVar was used to analyze the number of pathogenic missense variants. We show that proteins with an over-representation of missense variation exhibit a high degree of disorder, and proteins with a high amount of disorder tolerate a higher degree of missense variation. These proteins also exhibit a lower amount of pathogenic missense variants with respect to total missense variants. These data suggest that protein function may be related to the overall level of disorder and could be used to refine variant interpretation in IRDs.
MeSH term(s)	Humans ; Proteins/chemistry ; Amino Acid Sequence ; Retinal Diseases/genetics ; Protein Domains ; Intrinsically Disordered Proteins/chemistry ; Protein Conformation
Chemical Substances	Proteins ; Intrinsically Disordered Proteins
Language	English
Publishing date	2023-01-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24021060
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Article ; Online: SURGICAL OUTCOMES OF VASOPROLIFERATIVE RETINAL TUMORS' REFRACTORY TO NONINVASIVE THERAPIES.

Mares, Virginia / Veloso, Carlos E / Pulido, Jose S / Nehemy, Marcio B

Retina (Philadelphia, Pa.)

2022 Volume 42, Issue 9, Page(s) 1772–1779

Abstract: Purpose: To evaluate the outcomes of surgical treatment of refractory vasoproliferative retinal tumors (VPTs) and its complications.: Methods: Clinical charts of all patients diagnosed with VPTs who underwent surgical treatment from 2005 to 2020 were ...

Abstract	Purpose: To evaluate the outcomes of surgical treatment of refractory vasoproliferative retinal tumors (VPTs) and its complications. Methods: Clinical charts of all patients diagnosed with VPTs who underwent surgical treatment from 2005 to 2020 were reviewed. Clinical features, surgical techniques, and outcomes were evaluated. Results: From 25 eyes of 23 patients with VPTs, 17 (68%) eyes underwent surgical intervention to treat tumor activity and associated complications including epiretinal membrane (n = 10, 59%), retinal detachment (n = 8, 47%), and vitreous hemorrhage (n = 3, 18%). All eyes underwent pars plana vitrectomy with endolaser/cryotherapy to control tumor activity and to treat associated complications. Three cases required tumor resection. At the end of follow-up (mean 55.4 months, range 2-305 months), no eye presented tumor activity or retinal detachment after one or two surgeries. There was no epiretinal membrane recurrence. The mean baseline best-corrected visual acuity was 1.2 ± 0.7 logMAR, and the mean final best-corrected visual acuity was 0.7 ± 0.6 logMAR ( P < 0.05). The best-corrected visual acuity improved two or more lines in 12 (70.5%) eyes at the end of follow-up. Conclusion: In this series of patients with large active VPTs, surgical intervention allowed control of the tumor activity in all patients and provided overall satisfactory anatomic and functional outcomes.
MeSH term(s)	Epiretinal Membrane ; Humans ; Retinal Detachment/etiology ; Retinal Detachment/surgery ; Retinal Neoplasms/diagnosis ; Retrospective Studies ; Treatment Outcome ; Visual Acuity ; Vitrectomy/adverse effects
Language	English
Publishing date	2022-06-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	603192-4
ISSN	1539-2864 ; 0275-004X
ISSN (online)	1539-2864
ISSN	0275-004X
DOI	10.1097/IAE.0000000000003520
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Article ; Online: Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle.

Lee, Karen E / Thuma, Tobin B T / Salabati, Mirataollah / Sivalingam, Meera D / Pulido, Jose S / Gunton, Kammi B

American journal of ophthalmology case reports

2023 Volume 34, Page(s) 101970

Abstract: Purpose: We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site.: Observations: A 46-year-old male with PXE presented for evaluation of blurry vision and was found to have classic PXE findings in both ... ...

Abstract	Purpose: We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site. Observations: A 46-year-old male with PXE presented for evaluation of blurry vision and was found to have classic PXE findings in both eyes and angioid streaks adjacent to the site of a scleral buckle in his left eye. He underwent multimodal imaging, genetic testing, and intravitreal aflibercept in the right eye. Conclusions and importance: Bruch's membrane is known to be fragile in PXE, and patients are often counseled about the heightened risk of playing contact sports. This report raises the question of whether tension from a scleral buckle in the setting of a calcified and brittle BM may increase the likelihood of angioid streaks near the buckle site. In the setting of retinal detachment, it may be worthwhile to carefully weigh the pros and cons of vitrectomy versus buckle for PXE patients.
Language	English
Publishing date	2023-12-07
Publishing country	United States
Document type	Case Reports
ISSN	2451-9936
ISSN (online)	2451-9936
DOI	10.1016/j.ajoc.2023.101970
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Article ; Online: Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes.

Tanner, Alexander / Chan, Hwei Wuen / Schiff, Elena / Mahroo, Omar A / Pulido, Jose S

BMJ open ophthalmology

2022 Volume 7, Issue 1

Abstract: ... of CI <0.35 for observed to expected (o/e) ratio of loss of function variants in the gnomAD resource ... represented or over-represented (Z score for o/e ratio of <-2.99 or >2.99, respectively) were also identified ...

Abstract	Background: Large databases permit quantitative description of genes in terms of intolerance to loss of function ('haploinsufficiency') and prevalence of missense variants. We explored these parameters in inherited retinal disease (IRD) genes. Methods: IRD genes (from the 'RetNet' resource) were classified by probability of loss of function intolerance (pLI) using online Genome Aggregation Database (gnomAD) and DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) databases. Genes were identified having pLI ≥0.9 together with one or both of the following: upper bound of CI <0.35 for observed to expected (o/e) ratio of loss of function variants in the gnomAD resource; haploinsufficiency score <10 in the DECIPHER resource. IRD genes in which missense variants appeared under-represented or over-represented (Z score for o/e ratio of <-2.99 or >2.99, respectively) were also identified. The genes were evaluated in the gene ontology Protein Analysis THrough Evolutionary Relationships (PANTHER) resource. Results: Of 280 analysed genes, 39 (13.9%) were predicted loss of function intolerant. A greater proportion of X-linked than autosomal IRD genes fulfilled these criteria, as expected. Most autosomal genes were associated with dominant disease. PANTHER analysis showed >100 fold enrichment of spliceosome tri-snRNP complex assembly. Most encoded proteins were longer than the median length in the UniProt database. Fourteen genes (11 of which were in the 'haploinsufficient' group) showed under-representation of missense variants. Six genes ( Conclusion: A minority of IRD-associated genes appear to be 'haploinsufficient'. Over-representation of spliceosome pathways was observed. When interpreting genetic tests, variants found in genes with over-representation of missense variants should be interpreted with caution.
MeSH term(s)	ADAMTS Proteins/genetics ; Eye Proteins/genetics ; Genomics ; Humans ; Mutation ; Potassium Channels, Voltage-Gated/genetics ; Retina/metabolism ; Retinal Diseases/genetics ; Ribonucleoproteins, Small Nuclear/genetics
Chemical Substances	Eye Proteins ; KCNV2 protein, human ; Potassium Channels, Voltage-Gated ; RP1L1 protein, human ; Ribonucleoproteins, Small Nuclear ; ADAMTS Proteins (EC 3.4.24.-) ; ADAMTS18 protein, human (EC 3.4.24.-)
Language	English
Publishing date	2022-08-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2397-3269
ISSN (online)	2397-3269
DOI	10.1136/bmjophth-2022-001079
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Article ; Online: A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases.

Lee, Karen E / Pulido, Jose S / da Palma, Mariana M / Procopio, Rebecca / Hufnagel, Robert B / Reynolds, Margaret

Genes

2023 Volume 14, Issue 8

Abstract: Background/purpose: A comprehensive review of the degree of disorder in all genes in the Retinal Information Network (RetNet) Database is implicated in inherited retinal diseases (IRDs). Their association with a missense variation was evaluated.: ... ...

Abstract	Background/purpose: A comprehensive review of the degree of disorder in all genes in the Retinal Information Network (RetNet) Database is implicated in inherited retinal diseases (IRDs). Their association with a missense variation was evaluated. Methods: IRD genes from RetNet were included in this study. Publicly available data on the genome aggregation database (gnomAD) were used to analyze the number of total and pathogenic missense variants. Metapredict, an accurate and high-performance predictor that reproduces consensus disorder scores, was used to calculate disorder. Main outcome measures: The main outcome measures were percent disorder, percent pathogenicity, number of total missense variants, and percent total missense variation. Results: We included 287 RetNet genes with relevant data available from gnomAD. Mean percent disorder was 26.3% ± 26.0%, mean percent pathogenicity was 5.2% ± 11.0%, mean number of total missense variants was 424.4 ± 450.0, and mean percent total missense was 50.0% ± 13.4%. The percent disorder followed a bimodal distribution with the highest number of occurrences in the 0 to 10th disorder decile. The five outlier proteins in the first disorder decile with a higher-than-expected number of total missense variation were identified (HMCN1, ADGRV, USH2A, DYNC2H1, LAMA1, and SLC38A8). When excluded, % total missense was significantly associated with percent disorder (R = 0.238 and Conclusions: This novel study examining all genes implicated in IRDs found that the majority genes had a disorder in the 0 to 10th decile and were relatively intolerant to missense variation. This may have future utility when interpreting variants of undetermined significance and missense variants.
MeSH term(s)	Humans ; Retina ; Retinal Diseases/genetics ; Usher Syndromes ; Databases, Factual ; Mutation, Missense
Language	English
Publishing date	2023-08-08
Publishing country	Switzerland
Document type	Review ; Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14081601
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Article ; Online: Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population.

Tanner, Alexander / Sagoo, Mandeep S / Mahroo, Omar A / Pulido, Jose S

BMJ open ophthalmology

2024 Volume 9, Issue 1

Abstract: ... upper CI O/E limit <0.35 for loss of function variants in gnomAD and/or a DECIPHER pHaplo ≥0.86. UniProt ...

Abstract	Background: Large genomic databases enable genetic evaluation in terms of haploinsufficiency and prevalence of missense and synonymous variants. We explored these parameters in ocular tumour-associated genes. Methods: A curated list of ocular tumour-associated genes was assessed using the genomic databases Genome Aggregation Database (gnomAD) and DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) and compared with breast and lung cancer-associated gene lists. Haploinsufficiency was determined based on specific criteria: probability of loss of function index ≥0.9 in gnomAD, upper CI O/E limit <0.35 for loss of function variants in gnomAD and/or a DECIPHER pHaplo ≥0.86. UniProt was used for further gene characterisation, and gene ontology Protein Analysis THrough Evolutionary Relationships was explored for common biological pathways. In addition, we identified genes with under-representation/over-representation of missense/synonymous variants. Results: Fifty-seven genes were identified in association with ocular and extraocular tumours.Regarding haploinsufficiency, 41% of genes met the criteria for negative selection, with 57% categorised as tumour-suppressing and 39% as oncogenic. Most genes were involved in regulatory processes. Regarding triplosensitivity, 33% of genes reached significance and 83% of these were haploinsufficient. Analysis of variants revealed under-representation of missense variants in 23% of genes and over-representation of synonymous variants in 5% of genes. Ocular tumour-associated genes exhibited higher scores for haploinsufficiency and triplosensitivity compared with breast and lung cancer-associated genes. Pathway analysis revealed significant enrichment in cellular proliferation, differentiation and division. Encoded proteins of ocular tumour-associated genes were generally longer than the median of the UniProt database. Conclusion: Our findings highlight the importance of negative selection in ocular tumour genes, supporting cranial gene conservation. This study provides insights into ocular tumourigenesis and future research avenues.
MeSH term(s)	Humans ; Proteins ; Haploinsufficiency/genetics ; Genomics ; Eye Neoplasms/genetics ; Lung Neoplasms
Chemical Substances	Proteins
Language	English
Publishing date	2024-02-21
Publishing country	England
Document type	Journal Article
ISSN	2397-3269
ISSN (online)	2397-3269
DOI	10.1136/bmjophth-2023-001565
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