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Dataset results
142 results for “Phenotypic syndrome”
Patients data for meta-analysis of genotype-phenotype associations in Bardet-Biedl Syndrome
<p>Data used for metaanalysis of the genotype-phenotype relationship in Bardet Biedl Syndrome.</p> <p>File "EV table 1 literature.xlsx" describes studies that were included in the metaanalysis. File "EV table 2 dataset.xlsx" contains individual patient data. Each row corresponds to a patient. If the same patient was reported in more than 1 study, their data were merged into one row. The columns are as follows:</p> <p>* source - a citation to the study the patient originated in</p> <p>* FamilyID - randomly generated ID of a family (unique over the dataset), two persons with the same FamilyID are related.</p> <p>* source case n. - A unique identifier of the patient within the study</p> <p>* gene - A gene carrying the principal BBSome related mutation</p> <p>* nucleotide change (allele 1,2) - description of the mutations in DNA individual alleles of the gene, in HGVS nomenclature</p> <p>* protein change (allele 1,2) - description of how the mutations in DNA change the resulting protein, in HGVS nomenclature</p> <p>* type of mut allele 1,2 - whether the given mutation is considered missense (MS) or large truncation (trunc)</p> <p>* mut/mut - combination of mutations for both alleles</p> <p>* additional mutations - mutations in other BBSome-related genes. Format is "gene: DNA mutation, protein mutation"</p> <p>* sex - "F" or "M" (where reported)</p> <p>* age group - age group (where reported)</p> <p>* age - age in years. Contains fractions, decimal values and "5 month"</p> <p>* RD, OBE, PD, CI, REP, REN, HEART, LIV, DD - presense or absence of phenotypes, if reported. RD – retinal dystrophy, OBE – obesity, PD – polydactyly, CI – cognitive impairment , REP – reproductive system anomalies, REN – renal anomalies, HRT – heart disease, LIV – liver anomalies, DD - Developmental delay. Values are "" (not reported), "0" (no phenotype), "1" (phenotype present), "1!" conflicting reports of phenotype in multiple studies (some patients were involved in multiple studies)</p> <p>* ethnicity - ethnicity of the patient, if reported</p> <p>* ethinc group - grouping of the ethnicities into 8 larger groups (see paper for details)</p> <p>* note - miscellanous text, in particular contains notes on patients merged from multiple studies</p> <p>====</p> <p>The protocol for this meta-analysis was pre-registered with PROSPERO (CRD42018096099).</p> <p>PubMed and Google Scholar databases were searched in May 2018 for the following keywords: [bardet-biedl syndrome AND (genotype phenotype OR cohort)]. Other suitable records were identified by snowball searching, in particular, by retrieving relevant articles from the references of the studied full-texts. In addition, all the references included in the publicly available Euro-Wabb database (<a href="https://lovd.euro-wabb.org/home.php">https://lovd.euro-wabb.org/home.php</a>) were covered. Our search was limited to the literature published in English language and covered the period from the inception of each database to the 21st of May 2018.</p>
Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome
<p>DIfferential splicing analysis dataset generate using MAJIQ v2.5.1 pipeline accompanying the following manuscript: Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.</p>
DYRK1a inhibitor mediated rescue of Drosophila models of Alzheimer's disease-Down Syndrome phenotypes
<p>Alzheimer's disease (AD) is the most common neurodegenerative disease which is becoming increasingly prevalent due to ageing populations resulting in huge social, economic, and health costs to the community. Despite the pathological processing of genes such as Amyloid Precursor Protein (APP) into Amyloid-b and Microtubule Associated Protein Tau (MAPT) gene, into hyperphosphorylated Tau tangles being known for decades, there remains no treatments to halt disease progression. One population with increased risk of AD are people with Down syndrome (DS), who have a 90% lifetime incidence of AD, due to trisomy of human chromosome 21 (HSA21) resulting in three copies of APP and other AD-associated genes, such as DYRK1A (Dual specificity tyrosine-phosphorylation-regulated kinase 1A) overexpression. This suggests that blocking DYRK1A might have therapeutic potential. However, it is still not clear to what extent DYRK1A overexpression by itself leads to AD-like phenotypes and how these compare to Tau and Amyloid-b mediated pathology. Likewise, it is still not known how effective a DYRK1A antagonist may be at preventing or improving any Tau, Amyloid-b and DYRK1a mediated phenotype. To address these outstanding questions, we characterised Drosophila models with targeted overexpression of human Tau, human Amyloid-b or the fly orthologue of DYRK1A, called minibrain (mnb). We found targeted overexpression of these AD-associated genes caused degeneration of photoreceptor neurons, shortened lifespan, as well as causing loss of locomotor performance, sleep, and memory. Treatment with the experimental DYRK1A inhibitor PST-001 decreased pathological phosphorylation of human Tau (at serine (S) 262). PST-001 reduced degeneration caused by human Tau, Amyloid-b or mnb lengthening lifespan as well as improving locomotion, sleep and memory loss caused by expression of these AD and DS genes. This demonstrated PST-001 effectiveness as a potential new therapeutic targeting AD and DS pathology.</p>
Datset related to article: "ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome"
<p>Sanger sequences (.abi files) validating variants found with whole exome sequencing</p>
Phenotyping Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) by Intravesical Contrast Enhanced - Magnetic Resonance Imaging (ICE-MRI) Bladder Permeability Assay
ClinicalTrials.gov study NCT05811377. IPD Sharing: NO. Countries: 1. Publications: 2.
Data from: Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypes
Open the record for dataset details and reuse information.
Data from: Sex specific emergence of trisomic Dyrk1a-related skeletal phenotypes in the development of a Down syndrome mouse model
Open the record for dataset details and reuse information.
DYRK1a inhibitor mediated rescue of Drosophila models of Alzheimer’s disease-Down Syndrome phenotypes
Open the record for dataset details and reuse information.
Markers and Calculation of Cardiovascular Risk in the Distinct Phenotypes of Polycystic Ovary Syndrome
ClinicalTrials.gov study NCT01392781. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Defining the Brain Phenotype of Children With Williams Syndrome
ClinicalTrials.gov study NCT01132885. IPD Sharing: Not stated. Countries: 1. Publications: 6.
211^At-BC8-B10 Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Myelodysplastic Syndrome, or Mixed-Phenotype Acute Leukemia
ClinicalTrials.gov study NCT03128034. IPD Sharing: Not stated. Countries: 1. Publications: 1.
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
ClinicalTrials.gov study NCT06585605. IPD Sharing: NO. Countries: 1. Publications: 5.
Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome
ClinicalTrials.gov study NCT01951001. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
ClinicalTrials.gov study NCT01257269. IPD Sharing: Not stated. Countries: 7. Publications: 5.
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
ClinicalTrials.gov study NCT02461420. IPD Sharing: Not stated. Countries: 1. Publications: 2.
The Effect of Polycystic Ovary Syndrome Phenotypes on Quality of Life and Sexual Function
ClinicalTrials.gov study NCT06428786. IPD Sharing: NO. Countries: 1. Publications: 2.
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
ClinicalTrials.gov study NCT05528744. IPD Sharing: NO. Countries: 1. Publications: 1.
Phenotyping of Postural Orthostatic Tachycardia Syndrome (POTS)
ClinicalTrials.gov study NCT06292104. IPD Sharing: UNDECIDED. Countries: 1. Publications: 2.
Turner Syndrome: Genotype and Phenotype
ClinicalTrials.gov study NCT00006334. IPD Sharing: Not stated. Countries: 1. Publications: 5.
Kinematic and Neuromuscular Deficiencies Phenotypes Associated With Patellofemoral Pain Syndrome
ClinicalTrials.gov study NCT05441332. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
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International Brain Laboratory public data
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OpenNeuro
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