Clinical Trials About "chromosome inactivation altered" RSS

08:12 EDT 20th September 2019 | BioPortfolio

We list hundreds of Clinical Trials about "chromosome inactivation altered" on BioPortfolio. We draw our references from global clinical trials data listed on and refresh our database daily.

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Showing "chromosome inactivation altered" Clinical Trials 1–25 of 1,000+


Molecular Associations With Reproductive Failure

The overall hypothesis to be tested is: women with the molecular phenotype of highly skewed X chromosome inactivation are at increased risk of spontaneous abortion.

Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days

Objective: To determine if platelets treated for pathogen inactivation and stored for 6 to 7 days are safe and effective compared to platelets collected by the same method, stored for the same amount of time and not treated for pathogen inactivation.

Study of Selected X-Linked Disorders: Aicardi Syndrome

Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. Our team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. We are collecting blood samples from patients and their parents. A permanent cell line is prepared and DNA from the blood samples and cell lines is isolated and then used for genetic testing. Our current research includes micr...

Study on the Association Between SXCI and RM and the Possible Genetic Mechanism

To determine whether there is higher incidence of skewed X chromosome inactivation(SXCI) in the recurrent miscarriage(RM) population compared with normal population, and screen the possible genetic sites that may lead to SXCI and RM by genome microarray analysis of the RM patients with SXCI and normal females with SXCI.

Chromosome 18 Clinical Research Center

Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facili...

The Effectiveness of Kinesiotaping and Inactivation of Trigger Points in Chronic Myofascial Pain of TMD

In patients with a long-lasting TMD syndrome, especially of a muscular nature, palpation examination can locate the trigger points of pain (TrP) in the chewing muscles, i.e., the nodules in the shape of bumps the size of rice or pea grains. Kinesiotaping (KT) is considered as an intervention method that can be used to release latent myofascial trigger points. It is a method that involves applying specific tapes to the patient's skin surface in order to use the natural self-heal...

Clinical and Molecular Characterization of Familial Microsatellite Stable Colorectal Cancer

Two major genetic pathways leading to colorectal carcinoma can well be distinguished; the 'suppressor pathway', which is characterized by inactivation of tumor-suppressor genes and the 'mutator pathway', which is characterized by microsatellite instability. The purpose of this study is to explore a third putative pathway; microsatellite and chromosome stable colorectal cancer where an alternative cancer-causative mechanism might play a role.

Non-Invasive Determination of Fetal Chromosome Abnormalities

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.

XIST Gene Deletion in Breast Cancer Therapy

Very little is known about the role of X-inactive specific transcript RNA in human breast cancer and in regulating different response to therapy . the relation between the breast cancer predisposing gene BRCA1 & X-inactive specific transcript RNA has been investigated but still controversial. Loss of X chromosome inactivation (XCI) is observed in breast cancer . Other studies sheds light on a possible mechanism of breast carcinogenesis mediated by XIST misbehaviour.

Defining an Obesity QTL on Chromosome 3q

To investigate the genetic basis of obesity by fine mapping an obesity quantitative trail linkage (QTL) linked to chromosome 3q.

Multicenter Trial Treatment of Philadelphia Chromosome Negative B-cell Acute Lymphoblastic Leukemia of Young Adults

The purpose of this study is to prospectively validate the new risk model, based on minimal residual disease (MRD) response level and oncogenetic status by comparing historical results of GRAALL-2005 with those of GRAALL-2014 in an identical population of patients (Philadelphia chromosome negative, B lineage ALL, aged 18 to 59 years old).

The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants ...

Study of the Safety and Pharmacokinetics of XL765 in Adults With Solid Tumors

The purpose of this study is to determine the safety and tolerability of XL765. XL765 is a new chemical entity that inhibits the kinases PI3K and mTOR. In preclinical studies, inactivation of PI3K has been shown to inhibit growth and induce apoptosis (programmed cell death) in tumor cells, whereas inactivation of mTOR has been shown to inhibit the growth of tumor cells.

Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18: Examination of Osteosarcoma Tissue Samples From Two Family Members for Loss of Heterozygosity in the Chromosome 18 Region, Genetically Linked With Paget's Disease of Bone

Researchers have previously demonstrated loss of heterozygosity in a region on chromosome 18q, associated with osteogenic sarcomas in bone affected by Paget's disease. The loci used in this study are specifically described by those authors as showing loss of heterozygosity in 6 of 7 affected families.

Evaluation of Patients With Unresolved Chromosome Abnormalities

The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abn...

Experimental Gingivitis in Patients With Altered Passive Eruption

Altered passive eruption (APE) is an anatomical condition that is frequently diagnosed in periodontal clinical practice, especially for the ever-increasing demand of patients for the aesthetic improvement of their smile. In addition to its aesthetic value, however, altered passive eruption could also affect gingival and periodontal health. In fact, in the case of plaque accumulation, the altered passive eruption (APE) is likely to be a predisposing factor for a more rapid progr...

GRASPA (Erythrocytes Encapsulating L-asparaginase) in Patients With Relapse of Acute Lymphoblastic Leukemia

Asparaginase is a cornerstone in the treatment of ALL, but its utility is limited by toxicities including hypersensitivity. Clinical allergy is associated with inactivation of asparaginase by antibodies (A-Abs), which can also neutralize asparaginase without any clinical signs of hypersensitivity (silent inactivation). GRASPA improves pharmacokinetics, tolerability and maintain circulating asparaginase activity due to the protective barrier of the erythrocyte membrane. ...

Chromosome 5Q Gene Variants and Asthma-Related Traits

To identify gene variants in human chromosome 5Q31-33 that may be involved in the pathogenesis of asthma.

Growth Hormone and Chromosome 18q- and Abnormal Growth

We, the investigators at the University of Texas Health Science Center at San Antonio, want to learn if height and IQ (intelligence quotient) scores are improved by growth hormone (GH) treatment in children with chromosome 18 deletions and abnormal growth. Data from a previous study showed that growth hormone improved height in all children with 18q- and growth hormone deficiency. In addition, most of the study participants on growth hormone treatment showed an increase in IQ...

Trisomy of Chromosome 21 Diagnosis by High Output Sequencing

Demonstrate that the High output shotgun sequencing of the foetal DNA in the maternal blood could allow a complete discrimination between the mothers of a trisomic fetus 21 or a DISOMIQUE foetus 21 from the first quarter of the pregnancy, and so to obtain a reliable alternative in invasive procedure.

A Study of Preimplantation Genetic Screening With Next Generation Sequencing Technology on Advanced Age Women

With the development of society, more and more aged pregnant women because of various reasons, their abnormality rate of egg chromosome was higher than that of young women, then the abnormality rate of embryo chromosome is higher too, so the pregnancy rate in aged women is lower, abortion rate is higher. In order to improve the pregnancy rate in aged women, cut down their abortion rate 、fetal birth with abnormal chromosome, and the risk of pregnancy termination after the pren...

Prenatal Screening, Diagnosis and Intrauterine Intervention of Fetal Abnormal Chromosome and Structure in Twins Pregnancy

The risk of abnormal chromosome and structure is much higher in twins than in singletons, and traditional early pregnancy screening strategy for single pregnancy is not suitable for twins. Based on our management experience of fetal medicine at twin pregnancy, and multi-center cooperation, the study will carry out the following clinical studies: 1. to explore a suitable, early, noninvasive and accurate prenatal screening strategy for twin pregnancy. 2. fetal ch...

Documentation of Altered Mental Status

Altered mental status (AMS) is common in older patients. However there is a lack of standardization in the definition and documentation of this compliant. Different perception of AMS can cause negative impact on interpretation and obtaining scientific data. Although definition of AMS is so complicated, clinical documentation can be detected in these patients with AMS.

Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions

In this study, investigators assess, using Fluorescence in situ Hybridization (FISH) and Comparative Genomic Hybridization (CGH) arrays for Preimplantation Genetic Screening (PGS), the incidence of aneuploidies in spermatozoa and embryos from infertile men with and without microdeletions who undergo assisted reproduction in their clinics.

Effect of TA-65 on Healthy Volunteers

TA-65 MD® is pure, natural, plant-based compound that can help maintain or rebuild telomeres. A telomere is a region of repetitive DNA at the end of a chromosome, which protects the end of the chromosome from deterioration. They shorten during cell division and eventually signal an irreversible state of growth arrest known as cellular senescence. The length of a person's telomeres is an indicator of his or her overall health status; short telomeres have been associated with ce...

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