Genetic Analysis of the Chiari I Malformation
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PROVIDER: PRJNA526759 | ENA |
REPOSITORIES: ENA
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Project description:Genetic Analysis of the Chiari I Malformation
| PRJNA526760 | ENA
Project description:Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses were used to identify quantitative trait loci. To identify the presence of causative haplotype for Chiari-Like Malformation 80 Griffon Bruxellois dogs were genotyped using Illumina CanineHD Beadchip. This cohort consisted of 53 cases and 27 controls. Ten samples were whole genome amplified using the Qiagen Repli-g kit following the protocol. Linear and mixed regression model were used to define association between morphologic traits and genetic data. The sample traits (provided in the sample characteristics field) are described in the 'README_Traits_description.pdf' Processed data were obtained in 3 different normalization batches. The normalization batch/raw data file information is provided in the sample description field.
2014-05-19 | E-GEOD-52221 | biostudies-arrayexpress
Project description:Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Exome Sequencing
| PRJNA74827 | ENA
Project description:Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses were used to identify quantitative trait loci.
2014-05-19 | GSE52221 | GEO
Project description:This research aimed to investigate the aberrant expression of circRNA, messenger RNA, and microRNA in orbital venous malformation. A competitive endogenous RNA network was constructed to elucidate their potential roles in orbital venous malformation.
2022-07-06 | GSE158793 | GEO
Project description:Circular RNA expression analysis of orbital venous malformation
| PRJNA666629 | ENA
Project description:This research aimed to investigate the aberrant expression of circRNA, messenger RNA, and microRNA in orbital venous malformation. A competitive endogenous RNA network was constructed to elucidate their potential roles in orbital venous malformation.
2022-07-06 | GSE158791 | GEO
Project description:Background: Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance.
2018-03-01 | GSE102906 | GEO
Project description:Surgical specimens from children with infantile hemangioma or lymphatic malformations, as well as healthy appearing adjacent skin, were analyzed by microarray analysis of microRNA expression. Unsupervised hierarchical clustering was performed to identify microRNAs that were differentially expressed in IH compared to lymphatic malformations and skin 19 patients who underwent surgical excision of either a lymphatic malformation or infantile hemangioma were used in the study. 5 patients have multiple samples on the array and these duplicates are from different regions of the excised tissue or separate lesions as indicated. Tissue was snap frozen in liquid nitrogen and used for RNA extraction
2015-05-22 | E-GEOD-69136 | biostudies-arrayexpress
Project description:Identification of the genetic basis of rare monogenic diseases can provide insights into disease mechanisms, biological pathways and potential therapeutic targets. Exome sequencing has proven to be a powerful, efficient strategy for the identification of the genes underlying rare Mendelian disorders. The genetic defect behind the lethal malformation syndrome under study is known in some cases and has proven useful in revealing the primary underlying defect. We have six typical unrelated families with no known mutation. The aim of this study is to identify the locus associated with this lethal malformation syndrome in these families using exome sequencing.
| EGAS00001000061 | EGA