Modelos de dados selecionados

Deve ter sessão iniciada para selecionar vários modelos de dados e para os transferir ou analisar.

4 Resultados da pesquisa.
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dbGaP phs001002 Metastatic Castration-resistant Prostate Cancer GWAS - pht005043.v1.p1

- 29/01/2025 - 5 Formulários, 1 Grupo de itens, 5 Elementos de dados, 1 Idioma
Grupo de itens: pht005043
Principal Investigator: Howard McLeod, Moffitt Cancer Center, Tampa, FL, USA MeSH: Prostatic Neoplasms,Neutropenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001002 The Cancer and Leukemia Group B (CALGB) 90401 trial compared docetaxel and prednisone with or without bevacizumab in men with metastatic castration-resistant prostate cancer. A genome-wide association study using clinical outcomes and toxicities was conducted on the basis of data from CALGB patients who provided consent for pharmacogenomic studies and usable DNA

pht005044.v1.p1

1 Grupo de itens 31 Elementos de dados

pht005042.v1.p1

1 Grupo de itens 5 Elementos de dados

Eligibility

1 Grupo de itens 1 Elemento de dados

pht005045.v1.p1

1 Grupo de itens 6 Elementos de dados

dbGaP phs001011 CCHMC-eMERGE-Phase IIIA - Eligibility

- 02/10/2023 - 6 Formulários, 1 Grupo de itens, 33 Elementos de dados, 1 Idioma
Grupo de itens: IG.elig
Principal Investigator: John B. Harley, MD (Cytogenetics-Obesity, FSR, DSR, CLRR), National Institutes of Health, Bethesda, MD, USA MeSH: NA,Arthritis, Juvenile,Child Development Disorders, Pervasive,Cholangitis, Sclerosing,Developmental Disabilities,Eosinophilic Esophagitis,Hernia, Diaphragmatic,Infection,Lupus Erythematosus, Systemic,Neutropenia,Pediatric Obesity,Polymicrogyria,Rheumatic Diseases,Staphylococcus aureus https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001011 This submission includes genotyping or sequencing data from separate cohorts, each is described in separate paragraphs below. **Extreme early onset obesity** Obesity is a serious epidemic condition and on the rise in the United States. Today, nearly one out of three children is overweight or obese in this country. According to the Center for Disease Control, 35.7% of American adults and 17% of American children are obese. The medical costs associated with obesity are estimated to be in the billions. Without a doubt, interplay of additive genetic effects and common environmental effects influence this complex disease. However, despite being exposed to so-called "obesogenic environment", a large proportion of the population remains of normal weight. These observations suggest that innate, non-environmental, factors make some individuals more susceptible to obesity providing support for biological mechanisms, and thus genetic factors, to underlie the individual's response to the obesogenic environment. In young children with severe obesity the relative role of genetics and in utero programming are likely to outweigh the short duration of environmental and lifestyle exposures. This group is therefore an ideal one to study as they are likely enriched for variants that influence the risk of developing obesity. The purpose of this project is to further study and understand obesity in childhood and to develop a repository of samples for future studies into obesity. **Eosinophilic Esophagitis (EoE)** Eosinophilic Esophagitis (EoE) is one of the manifestations of eosinophilic gastrointestinal inflammation which have profound effects on a patient's health and development. Results of epidemiologic studies performed through our center demonstrate that eosinophil-associated gastrointestinal disease is not an uncommon entity. While the epidemiology of eosinophilic esophagitis has not been thoroughly studied until recently, there appears to be a significant increase in the diagnosis of EoE in the last decade. Based on our research, this mainly reflects increased disease recognition, but there is also a bona-fide increase in disease incidence which coincides with the increasing incidence of asthma and allergic diseases in the industrialized world. In addition, many patients with intractable symptoms thought in the past to represent atypical GERD or other disorders are now being recognized as having EoE. Diagnosis of EoE requires endoscopy and biopsies to document the characteristic histologic findings of esophageal eosinophilia. In general, this study proposed to elucidate the mechanisms underlying eosinophil growth, survival, migration, and function, and to investigate and further characterize the pathophysiology of, clinical manifestations of, and spectrum of disease severity of eosinophilic esophagitis in humans. The de-identified genotyping and genome wide association data generated as part of this research will be used for further genome research. **Familial Sample Repository (FSR) and Directed Sample Repository (DSR)** *De novo* mutations could cause many diseases, which has been demonstrated in mental retardation, autism and many rare genetic disorders. Family-based studies have a variety of advantages over case/control studies, including the elimination of analysis artifacts related to population stratification, the detection of genes that act through a recessive mechanism of inheritance and validation that the trait is not transmitted from a parent, something not possible using a case/control design. Additionally, DNA from families can be used to identify *de novo* mutations suggesting strong candidate causal polymorphisms. For this project, samples will be collected from families on an on-going basis. Families may be recruited because the patient either has a disease which is thought to be of genetic origin or from the general patient population to serve as controls or future identified diseases. Some phenotypes under study include fibroblastic rheumatism, diaphragmatic hernia, polymicrogyria, severe congenital neutropenia, primary sclerosing cholangitis and staph infection. **CLRR-Cincinnati Lupus Registry and Repository** Systemic lupus erythematosus (SLE) is a complex, partially understood autoimmune disorder. Genetic origins for SLE are supported by high heritability ( 66%), familial aggregation, increased monozygotic twin concordance, genetic linkages, and candidate gene genetic association, including HLA genes, Fc receptors, and complement components. Relevant environmental factors likely include infections (Epstein-Barr virus), therapeutics, personal habits (smoking), and diet. To continue a research resource facility for collection of well-characterized pedigrees containing a proband with systemic lupus erythematosus we develop this repository. **Juvenile Idiopathic Arthritis (JIA)** Juvenile Idiopathic Arthritis (JIA) is a debilitating complex genetic disorder characterized by inflammation of the joints and other tissues and shares histopathological features with other autoimmune diseases. It is considered complex genetic traits. There are more than 50,000 children with JIA in the USA, approximately 1 per 1000 births, which is about the same incidence as juvenile diabetes. It is believed that genes in the major histocompatibility complex (MHC) play a role in defining genetic risk, and it can be hypothesized that loci in other chromosomal regions are involved in conferring risk in JIA. These candidate chromosomal regions can be identified using genome-wide association analyses. The long-term goal is a comprehensive understanding of the genetic basis of these disabling arthropathies for which the molecular basis is not presently understood. These data will contribute to a national resource for the study of autoimmunity in children. **Better Outcomes for Children-Cytogenetics** Since 2007, more than 4000 samples, enriched with various rare or common genetic diseases as well as specific chromosomal abnormalities such as deletions and duplications have been genotyped for the purpose of subsequent GWAS and Phewas analyses and uncovering main genetic effects.

pht005529.v1.p1

1 Grupo de itens 6 Elementos de dados

pht005530.v1.p1

1 Grupo de itens 5 Elementos de dados

pht005531.v1.p1

1 Grupo de itens 4 Elementos de dados

pht005532.v1.p1

1 Grupo de itens 7 Elementos de dados

pht005533.v1.p1

1 Grupo de itens 4 Elementos de dados

dbGaP phs000507 Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans - pht002926.v2.p2

- 13/12/2022 - 6 Formulários, 1 Grupo de itens, 4 Elementos de dados, 1 Idioma
Grupo de itens: pht002926
Principal Investigator: Matthew Hsieh, MD, National Institutes of Health, NHLBI and NIDDK, Bethesda, MD, USA MeSH: Neutropenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000507 Benign ethnic neutropenia (BEN) is a clinical condition more commonly observed in African-Americans. It is characterized by a relative reduction in neutrophil count by about 1000 cells per microliter, leading to a decrease in total leukocyte count by similar decrement. Previous reports of this condition showed that there was neither higher frequency nor increased severity of infections in affected individuals. Bone marrow examinations showed normal white cell maturation; and ex vivo culture of marrow cells showed low normal or slightly reduced number of myeloid colonies. Under physiologic stress, the increases in neutrophil and leukocyte counts of BEN individuals are slightly lower, compared to normal African-Americans or Caucasians. These clinical observations suggest that BEN results from a lower 'set point' for cell number in the marrow. Additionally, case reports of familial BEN, the persistence of BEN over many decades in the US, UK, and Africa, and the recent report of Duffy antigen and chemokine receptor (DARC) being associated with neutropenia, all suggest a strong genetic association to neutropenia/leukopenia. Our initial look into microarray analyses in a pilot trial of subjects showed that there were no significant differences in mRNA signals between BEN and normal subjects. Therefore, we are now proposing a larger study, utilizing Illumina Omni Express chips, to look for genetic associations. We have partnered with the Reasons for Geographic and Racial Differences in Stroke study (REGARDS), where nearly half of the cohort are African-Americans. This will be one of the few GWAS being performed in only African-Americans, and will provide valuable genetic information to link with neutropenia and possibly other conditions/diseases. Genotyping was performed by the Johns Hopkins University Center for Inherited Disease Research (CIDR). Quality control of the genotypic and phenotypic data was performed through a collaboration between CIDR and the Genetics Coordinating Center, Department of Biostatistics at the University of Washington, which is funded by a federal contract supported by 14 NIH Institutes (HHSN268200782096C).

pht002927.v2.p2

1 Grupo de itens 5 Elementos de dados

pht002928.v2.p2

1 Grupo de itens 5 Elementos de dados

pht002929.v2.p2

1 Grupo de itens 16 Elementos de dados

pht008526.v1.p2

1 Grupo de itens 4 Elementos de dados

Eligibility

1 Grupo de itens 1 Elemento de dados

Eligibility Neutropenia in Breast Cancer NCT01079676

- 11/11/2020 - 1 Formulário, 2 Grupos de itens, 15 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
A Non-inferiority Study Comparing Two Filgrastim Preparations in Breast Cancer; ODM derived from: https://clinicaltrials.gov/show/NCT01079676

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