[PDF] Top 20 Ankyrin 3: genetic association with bipolar disorder and relevance to disease pathophysiology
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Ankyrin 3: genetic association with bipolar disorder and relevance to disease pathophysiology
... reported to surpass the genome-wide significance threshold of p < 5 × 10 -8 in a BD GWAS was diacylglycerol kinase eta (DGKH) [23], which has been supported by subsequent studies ...This association was ... Voir le document complet
14
The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology.
... leads to a different type of disease, the dermatosparactic type of EDS (also previously known as EDS-type VIIC) [8,37] ...rare genetic disease is the fragility of the skin, as in Adamts2-KO ... Voir le document complet
8
Common and rare variant analysis in early-onset bipolar disorder vulnerability.
... our association study, we report here convergent data between our GWA study on early onset BD, the structural abnormality observed in one patient and a missense mutation reported in one family with ... Voir le document complet
9
Association between the PPP3CC gene, coding for the calcineurin gamma catalytic subunit, and bipolar disorder.
... for bipolar males and female ...contribute to the etiology of BPAD. This is in accordance with pre- clinical work that relates calcineurin related signaling pathways to the ... Voir le document complet
5
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
... interact to facilitate CLC-5 plasma membrane expression, endo- cytosis, and microtubular transport: relevance to pathophysiology of Dent’s ...homeostasis and much of this occurs ... Voir le document complet
17
Genetic contribution to the aggregation of schizophrenia and bipolar disorder in multiplex consanguineous Pakistani pedigrees
... failed to explain the heritability of phenotypes in these ...BP and SCZ are extremely heterogeneous. The evaluation of the severity and duration of the patient’s disorder are based on familial ... Voir le document complet
189
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology
... presumably genetic disorder responsible for bleeding in Simmental cattle was described for the first time [ 86 ...hematomas and excessive bleeding after injuries or ...demonstrated to be the ... Voir le document complet
20
A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain.
... the disease status (affected or unaffected) in a multivariate model, and showed that the influence of genotypes on the mRNA expression level of SNAP25b in prefrontal cortex remained significant (two-way ... Voir le document complet
27
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
... hemoglobin and platelet levels, and for hepatic and splenic volumes [ 170 ...]. To fully appreciate how an individual is affected by GD and how that individual is responding to ... Voir le document complet
30
Reconsideration of bipolar disorder as a developmental disorder: importance of the time of onset.
... Mood and Anxiety Treatments (CANMAT) guidelines for the management of patients with bipolar disorder: consensus and ...controversies. Bipolar Disord 7 Suppl 3, ... Voir le document complet
27
Immunoglobulin sub-class distribution in bipolar disorder and schizophrenia: potential relationship with latent Toxoplasma Gondii infection
... size, and often providing contradictory ...this disorder [ 15 , 34 ...the disease ([ 1 , 3 , 6 , 10 , 11 , 16 , 27 , 29 , 32 ...gradually to reach a peak at about 12 to 17 years ... Voir le document complet
7
Identification of shared risk loci and pathways for bipolar disorder and schizophrenia
... Materials and methods Sample description The analyses were performed using data from our previous GWAS of BD (9,747 patients and 14,278 controls) [ 12 ...Australia, and four European countries); ... Voir le document complet
14
Gene regulation and chromatin organization: relevance of cohesin mutations to human disease
... attributed to the consequences of malformations, like gastroesophageal reflux, but not to the genetic defect ...tumorigenesis and for CdLS differ in their physiopathological ...either ... Voir le document complet
20
Thyroid autoimmunity in bipolar disorder: A systematic review
... M-Abs and TG- Abs in 173 consecutively admitted psychiatric inpatients, showing that the overall frequency of positive thyroid autoAbs titers in patients with affective disorder (9%) did not differ ... Voir le document complet
10
The HLA-G low expressor genotype is associated with protection against bipolar disorder.
... patient with multiple ...genotype and HLA-G expression in systemic lupus erythematosus: HLA-G as a putative susceptibility gene in systemic lupus ... Voir le document complet
24
View of Loopy: The Political Ontology of Bipolar Disorder
... needed to do. Like, “You need to take medicine. You need to go to ...have to prevent that from happening again” and it felt like at whatever cost – even if that meant completely ... Voir le document complet
11
The biological function of the Huntingtin protein and its relevance to Huntington’s Disease pathology
... models, and reduced activity of LXRs may be a contributing factor [152, ...leads to apoptotic cell death in the striatum, cortex, and hippocampus ...ischaemia and excitotoxicity in a ... Voir le document complet
16
Association of neurexin 3 polymorphisms with smoking behavior.
... kb) and 66% in NRXN3β at r 2 ≥ ...sites and SNPs previously associated with dis- ease were included as TagSNPs (Heard-Costa et ...TagSNPs and 4 singleton SNPs) and 1320 samples (CVH1, ... Voir le document complet
8
From expression pattern to genetic association in asthma and asthma-related phenotypes
... binds with tenascins [22]. More specifically, it binds to the type C tenascins that are upregulated in acute and chronic in- flammatory diseases ...leads to a decrease of the airway lumen ... Voir le document complet
6
Genetic determinants of cardiovascular disease : heritability and genetic risk score
... Materials and Methods: In the present study, phenotype data were available for 15,792 participants from the ARIC (Atherosclerosis Risk in Communities) ...cardiovascular disease in European ancestry (EA) ... Voir le document complet
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