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142
datasets available to search
ShareScore release 0.9.0
Dataset results
142 results for “Phenotypic syndrome”
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
ClinicalTrials.gov study NCT00004351. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
ClinicalTrials.gov study NCT07175168. IPD Sharing: UNDECIDED. Countries: 0. Publications: 0.
Evidence that chaperone 4-PBA treatment alleviates the renal phenotype in Alport syndrome mouse models
GEO Series GSE271383. Mus musculus. 9 samples. Type: Expression profiling by RT-PCR.
Life Span Analysis of Brain Development, Gene Expression and Behavioral Phenotypes in the Ts1Cje, Ts65Dn and Dp16 Mouse Models of Down Syndrome
GEO Series GSE99135. Mus musculus. 128 samples. Type: Expression profiling by array.
Reduced LYNX1 and epilepsy phenotype-related changes in transcriptome of human iPSC-derived neural progenitors modeling fragile X syndrome
GEO Series GSE216875. Homo sapiens. 18 samples. Type: Expression profiling by array.
A MYT1L Syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation
GEO Series GSE173943. Mus musculus. 57 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
Transcriptionally and phenotypically dysfunctional neutrophils have a suppressive role in macrophage activation syndrome
GEO Series GSE299930. Mus musculus. 3 samples. Type: Expression profiling by high throughput sequencing.
FMR1 Mutant Marmosets Show Fragile X Syndrome Phenotypes
GEO Series GSE271271. Callithrix jacchus. 4 samples. Type: Expression profiling by high throughput sequencing.
Phenotypic analysis of dental pulp stem cells derived from deciduous teeth in Down syndrome.
GEO Series GSE299674. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
AKR1C3-mediated adipose androgen generation fuels an adverse metabolic phenotype in polycystic ovary syndrome (PCOS)
GEO Series GSE84958. Homo sapiens. 53 samples. Type: Expression profiling by high throughput sequencing.
Episignatures stratifying ADNP syndrome show modest correlation with phenotype [Methylation]
GEO Series GSE152427. Homo sapiens. 57 samples. Type: Methylation profiling by genome tiling array.
AAV-mediated silencing of Sox4 leads to long-term amelioration of liver phenotypes in mouse models of Alagille syndrome (scRNA-Seq)
GEO Series GSE274942. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome
GEO Series GSE264597. Mus musculus. 24 samples. Type: Expression profiling by high throughput sequencing.
Pathophysiology of androgen-associated endothelial cell dysfunction in phenotype A polycystic ovarian syndrome revealed by iPSCs modeling
GEO Series GSE246456. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Loss of protein function of ZC4H2 gene causing severe phenotypes of female-restricted Wieacker Wolff Syndrome
GEO Series GSE208171. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Establishing a molecular phenotype for Angelman Syndrome stem cell-derived neurons
GEO Series GSE160747. Homo sapiens. 36 samples. Type: Expression profiling by high throughput sequencing.
Role of inherent strain differences in prenatally induced differential metabolic syndrome phenotype and gene expression
GEO Series GSE12117. Mus musculus. 32 samples. Type: Expression profiling by array.
Episignatures stratifying ADNP syndrome show modest correlation with phenotype
GEO Series GSE152428. Homo sapiens. 93 samples. Type: Expression profiling by high throughput sequencing; Methylation profiling by genome tiling array.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
<p>Joubert syndrome (JS) is a recessively inherited ciliopathy characterized by congenital ocular motor apraxia (COMA), developmental delay, intellectual disability, ataxia, multiorgan involvement and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known, with diagnostic yield of 60-75%.</p> <p>In 2018, we reported homozygous hypomorphic missense variants of the SUFU gene in two families with mild JS. Recently, heterozygous truncating SUFU variants were identified in families with dominantly inherited COMA, occasionally associated with mild DD and subtle cerebellar anomalies.</p> <p>We reanalyzed NGS data in two cohorts comprising 1097 probands referred for genetic testing of JS genes. Heterozygous truncating and splice-site SUFU variants were detected in 22 patients from 17 families (1.5%) with strong male prevalence (86%), and in eight asymptomatic parents. The majority of affected children presented with the same constellation of neurological features seen at the mildest end of the JS spectrum, characterized by early onset hypotonia persisting in infancy, COMA, mild motor and speech delay and mild truncal and limb ataxia.</p> <p>Ataxia occurred in over 60% of the patients, while only about one third eventually manifested intellectual disability. Abnormal neonatal breathing was reported only in a minority of patients. Of note, macrocephaly was present in 19 out of 22 children, while extra-neurological involvement was extremely rare. Attention-Deficit/Hyperactivity Disorder, autism traits, obsessive-compulsive disrdr and other behavioral defects were reported in a minority of patient.</p>
Brugada syndrome genetics is associated with phenotype severity.
<p>Dataset from Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Mecarocci V, Ćalović Ž, Ghiroldi A, D'Imperio S, Benedetti S, Di Resta C, Rivolta I, Casari G, Petretto E, Pappone C. Brugada syndrome genetics is associated with phenotype severity. Eur Heart J. 2021 Mar 14;42(11):1082-1090. doi: 10.1093/eurheartj/ehaa942. PMID: 33221895; PMCID: PMC7955973.</p> <p><strong>Abstract</strong></p> <p><strong>Aims: </strong>Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype-phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype-phenotype correlation in BrS.</p> <p><strong>Methods and results: </strong>Brugada syndrome probands deemed at high risk of future arrhythmic events underwent genetic testing and phenotype characterization by the means of epicardial arrhythmogenic substrate (AS) mapping, and were divided into two groups according to the presence or absence of SCN5A mutation. Two-hundred probands (160 males, 80%; mean age 42.6 ± 12.2 years) were included in this study. Patients harbouring SCN5A mutations exhibited a spontaneous type 1 pattern and experienced aborted cardiac arrest or spontaneous VT/VF more frequently than the other subjects. SCN5A-positive patients exhibited a larger epicardial AS area, more prolonged electrograms and more frequently observed non-invasive late potentials. The presence of an SCN5A mutation explained >26% of the variation in the epicardial AS area and was the strongest predictor of a large epicardial area.</p> <p><strong>Conclusion: </strong>In BrS, the genetic background is the main determinant for the extent of the electrophysiological abnormalities. SCN5A mutation carriers exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation. These results contribute to the understanding of the genetic determinants of the BrS phenotypic expression and provide possible explanations for the varying degrees of disease expression.</p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.