نتایج جستجو برای: candidate gene

تعداد نتایج: 1217019  

Journal: :modares journal of medical sciences: pathobiology 2010
mehdi mahdavi massoumeh ebtekar kayhan azadmanesh fereidoun mahboudi hamidreza khorram khorshid

objective: today, aids is considered as a global problem and many efforts to generate an effective vaccine against this disease have been made, but remain inconclusive. dna vaccines are a member of the new generation of vaccines that can efficiently stimulate the immune system. however, recent findings indicate low immunogenicity for these vaccines and it is believed that these types of vaccine...

Journal: :PLoS Biology 2003
Roderick MacKinnon Robert Stroud

PLoS Biology | http://biology.plosjournals.org Biochemists aren’t much accustomed to seeing their work in the popular press, save for annual coverage of the Nobel prize in chemistry. This year, Roderick MacKinnon was recognized for working out the atomic structure of an ion channel and Peter Agre for discovering that a major protein found in red blood cells functions primarily as a water channe...

2017

Causation of a disease and a symptom generally is classified as genetic inheritance and environmental factors. A disease caused by a single gene disorder is defined as a disease that is attributed to a monogenic factor. A single gene disorder has been reported in more than 3,000 hereditary diseases. On the other hand, a polygenic or multifactorial disease is attributed to some susceptibility ge...

Journal: :Genetic epidemiology 2008
Janna E Hutz Aldi T Kraja Howard L McLeod Michael A Province

Genomewide studies and localized candidate gene approaches have become everyday study designs for identifying polymorphisms in genes that influence complex human traits. Yet, in general, the number of significant findings and the need to focus on smaller regions require a prioritization of genes for further study. Some candidate gene identification algorithms have been proposed in recent years ...

Journal: :Annual review of genomics and human genetics 2005
Cosmas Giallourakis Charlotte Henson Michael Reich Xiaohui Xie Vamsi K Mootha

The availability of complete genome sequences and the wealth of large-scale biological data sets now provide an unprecedented opportunity to elucidate the genetic basis of rare and common human diseases. Here we review some of the emerging genomics technologies and data resources that can be used to infer gene function to prioritize candidate genes. We then describe some computational strategie...

2014
Christophe Frainais Caroline Kannengiesser Martine Albert Denise Molina-Gomes Florence Boitrelle Marc Bailly Bernard Grandchamp Jacqueline Selva François Vialard

INTRODUCTION Genes involved in testicular differentiation, spermatogenesis, proliferation and apoptosis of germ cells have been shown to evolve rapidly and display rapid DNA changes. These genes are therefore good candidates for explaining impairments in spermatogenesis. Initial studies of some of these genes appear to confirm this hypothesis. The RHOXF2 candidate gene belongs to the RHOX famil...

2014
Linda Pons Sophie Dupuis-Girod Marie-Pierre Cordier Patrick Edery Massimiliano Rossi

Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal organ malformations. It is caused by heterozygous mutations or deletions in the ZEB2 gene. Nearly 180 patients have been reported to date, but only one with asplenia. We...

Journal: :Current opinion in genetics & development 2010
Boris Pasche Nengjun Yi

Epidemiologic studies of twins indicate that 20-40% of common tumors such as breast, colorectal, and prostate cancers are inherited. However, the effect of high penetrance tumor susceptibility genes such as APC, BRCA1, BRAC2, MSH1, MLH2 and MSH6 only accounts for a small fraction of these cancers. Low to moderate penetrance tumor susceptibility genes likely account for the large remaining propo...

2007
Donald O. Mutti Margaret E. Cooper Sarah O'Brien Lisa A. Jones Mary L. Marazita Jeffrey C. Murray Karla Zadnik

PURPOSE A previous study has reported evidence of a strong linkage, but no association, between paired box gene 6 (PAX6) and myopia. We attempted to replicate these findings and to conduct a candidate gene and locus evaluation of genetic involvement in common forms of myopia. METHODS Samples were collected from 517 individuals in 123 families with a myopic child participating in the Orinda Lo...

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