Ensembl Introduction
... • Joint project between EBI and Sanger • Funded primarily by the Wellcome Trust, additional funding by EMBL, NIH-NIAID, EU, BBSRC and MRC • Team of ca. 40 people, led by Ewan Birney (EBI) and Tim Hubbard (Sanger) ...
... • Joint project between EBI and Sanger • Funded primarily by the Wellcome Trust, additional funding by EMBL, NIH-NIAID, EU, BBSRC and MRC • Team of ca. 40 people, led by Ewan Birney (EBI) and Tim Hubbard (Sanger) ...
Glycosylphosphatidyl inositol-anchored protein (GPI
... It has previously been shown that the GPI-80 is a possible regulatory molecule of cell adhesion and migration.18–20) GPI80 protein has a high sequence homology with Vanin-1,21) which is expressed on perivascular thymic stromal cells and is involved in thymus homing in mice.22) There is about 60% mol ...
... It has previously been shown that the GPI-80 is a possible regulatory molecule of cell adhesion and migration.18–20) GPI80 protein has a high sequence homology with Vanin-1,21) which is expressed on perivascular thymic stromal cells and is involved in thymus homing in mice.22) There is about 60% mol ...
Promise Vivian Laws: a model patient page 16
... Scientists improve pneumonia treatment St. Jude scientists have demonstrated an extremely effective treatment for bacterial pneumonia following influenza. The researchers found that the antibiotics clindamycin and azithromycin, which kill bacteria by inhibiting their protein synthesis, are more effe ...
... Scientists improve pneumonia treatment St. Jude scientists have demonstrated an extremely effective treatment for bacterial pneumonia following influenza. The researchers found that the antibiotics clindamycin and azithromycin, which kill bacteria by inhibiting their protein synthesis, are more effe ...
Promise – Spring 2009 - St. Jude Children`s Research Hospital
... Scientists improve pneumonia treatment St. Jude scientists have demonstrated an extremely effective treatment for bacterial pneumonia following influenza. The researchers found that the antibiotics clindamycin and azithromycin, which kill bacteria by inhibiting their protein synthesis, are more effe ...
... Scientists improve pneumonia treatment St. Jude scientists have demonstrated an extremely effective treatment for bacterial pneumonia following influenza. The researchers found that the antibiotics clindamycin and azithromycin, which kill bacteria by inhibiting their protein synthesis, are more effe ...
Use of home oxygen therapy in adults
... Short-burst oxygen therapy Oxygen administered from large static cylinders used to be the commonest form of home oxygen therapy. Patients would use oxygen for short periods when breathless or for reassurance, hence the name shortburst oxygen therapy (SBOT). However, there is no evidence base to supp ...
... Short-burst oxygen therapy Oxygen administered from large static cylinders used to be the commonest form of home oxygen therapy. Patients would use oxygen for short periods when breathless or for reassurance, hence the name shortburst oxygen therapy (SBOT). However, there is no evidence base to supp ...
Sense and Nonsense in the Genetic Code
... milestone in biology (1). This code designates the relations between the 64 possible codons (2) present in messenger RNA and the 20 amino acids present in proteins. The RNA codons are derived by transcription of com?lementary codons in DNA, which is the primary genetic material of most organisms (th ...
... milestone in biology (1). This code designates the relations between the 64 possible codons (2) present in messenger RNA and the 20 amino acids present in proteins. The RNA codons are derived by transcription of com?lementary codons in DNA, which is the primary genetic material of most organisms (th ...
Gene Section PAX2 (Paired box gene 2) Atlas of Genetics and Cytogenetics
... PAX2 is overexpressed in a variety of cancers (see below). A detailed understanding of the mechanistic contribution mediated by PAX2 has yet to be established. However, inhibition of PAX2 expression in a number of cancer cell lines induces cell death, indicating a role for PAX2 in tumour cell surviv ...
... PAX2 is overexpressed in a variety of cancers (see below). A detailed understanding of the mechanistic contribution mediated by PAX2 has yet to be established. However, inhibition of PAX2 expression in a number of cancer cell lines induces cell death, indicating a role for PAX2 in tumour cell surviv ...
Congenital Adrenal Hyperplasia
... Yes, there are different grades of severity of CAH depending on the impairment of production of cortisol and aldosterone. 1. Classic CAH (with virilisation in girls) • Salt wasting: a severe deficiency in the enzyme block meaning both cortisol and aldosterone are reduced and androgens are increased ...
... Yes, there are different grades of severity of CAH depending on the impairment of production of cortisol and aldosterone. 1. Classic CAH (with virilisation in girls) • Salt wasting: a severe deficiency in the enzyme block meaning both cortisol and aldosterone are reduced and androgens are increased ...
Methylation of the Factor IX Gene is the Main Source of Mutations
... A total of 750 mutations in the human coagulation factor IX gene in 806 patients with hemophilia В were analyzed. It was found that 40% of all point mutations occur in 11 "hot spots," which are CG methylation sites where *CG TG or *CG CA substitutions take place. A mechanism is proposed which expl ...
... A total of 750 mutations in the human coagulation factor IX gene in 806 patients with hemophilia В were analyzed. It was found that 40% of all point mutations occur in 11 "hot spots," which are CG methylation sites where *CG TG or *CG CA substitutions take place. A mechanism is proposed which expl ...
Therapeutic Update on Seborrheic Dermatitis
... Also in this issue: Current Management of Actinic Keratoses (on Page 5) & Update on Drugs (on Page 8) ...
... Also in this issue: Current Management of Actinic Keratoses (on Page 5) & Update on Drugs (on Page 8) ...
Cloning and Expression of Cellulosimicrobium cellulans β
... acetic acid, ammonia, urea, some enzyme preparations and Lactobacillus buchneri as silage inoculant have been used to prevent or enhance of aerobic stability and decrease of spoilage [11]. However, usage of most of these additives has been restricted because of their other undesirable properties. Fo ...
... acetic acid, ammonia, urea, some enzyme preparations and Lactobacillus buchneri as silage inoculant have been used to prevent or enhance of aerobic stability and decrease of spoilage [11]. However, usage of most of these additives has been restricted because of their other undesirable properties. Fo ...
Multiple Mechanisms Contribute to Lateral Transfer of an
... However the sequence of the opd gene cluster in the self-transmissible pCMS1 showed no features of a transposable element (Pandeeti et al. 2011), and although a transposon-like organization was found in pPDL2, the opd cluster of pPDL2 has not been shown to be an active transposon (Siddavattam et al. ...
... However the sequence of the opd gene cluster in the self-transmissible pCMS1 showed no features of a transposable element (Pandeeti et al. 2011), and although a transposon-like organization was found in pPDL2, the opd cluster of pPDL2 has not been shown to be an active transposon (Siddavattam et al. ...
31 Shareable Fragile X Facts (National Fragile X Foundation)
... of females who are premutation carriers, and is a cause of infertility, early menopause and other ovarian problems. 25. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult onset (over the age of 50) condition that can cause neurological and psychiatric symptoms in both male and female pr ...
... of females who are premutation carriers, and is a cause of infertility, early menopause and other ovarian problems. 25. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult onset (over the age of 50) condition that can cause neurological and psychiatric symptoms in both male and female pr ...
Calcitonin
... Calcitonin is a 32-amino acid polypeptide hormone that is produced in humans primarily by the parafollicular (also known as C-cells) of the thyroid, and in many other animals in the ultimobranchia body. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone(PTH). It has ...
... Calcitonin is a 32-amino acid polypeptide hormone that is produced in humans primarily by the parafollicular (also known as C-cells) of the thyroid, and in many other animals in the ultimobranchia body. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone(PTH). It has ...
HMMs for gene predictions.
... and ends with a stop codon. • 5’ splice sites (exon to intron) are usually GT; • 3’ splice sites (intron to exon) are usually AG. • The distribution of nucleotides and dinucleotides is usually different in introns and exons. ...
... and ends with a stop codon. • 5’ splice sites (exon to intron) are usually GT; • 3’ splice sites (intron to exon) are usually AG. • The distribution of nucleotides and dinucleotides is usually different in introns and exons. ...
A gene expression atlas of a bicoid-depleted
... expression atlas, we used the ‘maternal Gal4 shRNA’ system to deplete bcd mRNA in the female germ line (Ni et al., 2011; Staller et al., 2013). shRNAs are genetically dominant, a feature that ensures all embryos are affected while avoiding labor-intensive sorting of mutant females. The fly husbandry ...
... expression atlas, we used the ‘maternal Gal4 shRNA’ system to deplete bcd mRNA in the female germ line (Ni et al., 2011; Staller et al., 2013). shRNAs are genetically dominant, a feature that ensures all embryos are affected while avoiding labor-intensive sorting of mutant females. The fly husbandry ...
Genetic polymorphisms of vein wall remodeling in chronic venous
... ulceration, mainly relating to certain noted polymorphisms in genes associated with vein wall remodeling. In fact, genetic risk factors are already known to affect wound progression and healing, and screening in this regard may aid in the planning of appropriate individualized treatment and prophyla ...
... ulceration, mainly relating to certain noted polymorphisms in genes associated with vein wall remodeling. In fact, genetic risk factors are already known to affect wound progression and healing, and screening in this regard may aid in the planning of appropriate individualized treatment and prophyla ...
Pancreatic agenesis is a discrete subgroup of patients who have
... We report a novel hypomorphic homozygous PTF1A mutation in 4 affected individuals from two families who are likely to have inherited the mutation from a common distant ancestor. The clinical phenotype is of neonatal diabetes with reduced exocrine function and normal neurological function and appeara ...
... We report a novel hypomorphic homozygous PTF1A mutation in 4 affected individuals from two families who are likely to have inherited the mutation from a common distant ancestor. The clinical phenotype is of neonatal diabetes with reduced exocrine function and normal neurological function and appeara ...
Pediatrics CONGRESS PROGRAM Controversies
... Growth during childhood and adolescence occurs at different rates and is influenced by the interaction between genetic and environmental factors. Studies on these factors will be presented in this session ...
... Growth during childhood and adolescence occurs at different rates and is influenced by the interaction between genetic and environmental factors. Studies on these factors will be presented in this session ...
Cancer biomarkers - Current perspectives
... losses with more or less significant breast carcinoma associations on virtually all chromosomes have been reported23. Unfortunately, unlike these well defined markers, random chromosomal abnormalities that are not associated with a particular morphological change give rise to clinical cancer24. Lo ...
... losses with more or less significant breast carcinoma associations on virtually all chromosomes have been reported23. Unfortunately, unlike these well defined markers, random chromosomal abnormalities that are not associated with a particular morphological change give rise to clinical cancer24. Lo ...
Chapter 12 Recombinant DNA Technology Key Concepts
... the F plasmid, which confers certain types of conjugative behavior to cells of E. coli. The F plasmid can be used as a vector for carrying large donor DNA inserts, as we shall see in Chapter 14. However, the plasmids that are routinely used as vectors are those that carry genes for drug resistance. ...
... the F plasmid, which confers certain types of conjugative behavior to cells of E. coli. The F plasmid can be used as a vector for carrying large donor DNA inserts, as we shall see in Chapter 14. However, the plasmids that are routinely used as vectors are those that carry genes for drug resistance. ...
Prediction and Validation of Gene-Disease Associations
... Correctly identifying associations of genes with diseases has long been a goal in biology. With the emergence of large-scale gene-phenotype association datasets in biology, we can leverage statistical and machine learning methods to help us achieve this goal. In this paper, we present two methods fo ...
... Correctly identifying associations of genes with diseases has long been a goal in biology. With the emergence of large-scale gene-phenotype association datasets in biology, we can leverage statistical and machine learning methods to help us achieve this goal. In this paper, we present two methods fo ...
Gene therapy
Gene therapy is the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease. Gene therapy could be a way to fix a genetic problem at its source. The polymers are either expressed as proteins, interfere with protein expression, or possibly correct genetic mutations.The most common form uses DNA that encodes a functional, therapeutic gene to replace a mutated gene. The polymer molecule is packaged within a ""vector"", which carries the molecule inside cells.Gene therapy was conceptualized in 1972, by authors who urged caution before commencing human gene therapy studies. By the late 1980s the technology had already been extensively used on animals, and the first genetic modification of a living human occurred on a trial basis in May 1989 , and the first gene therapy experiment approved by the US Food and Drug Administration (FDA) occurred on September 14, 1990, when Ashanti DeSilva was treated for ADA-SCID. By January 2014, some 2,000 clinical trials had been conducted or approved.Early clinical failures led to dismissals of gene therapy. Clinical successes since 2006 regained researchers' attention, although as of 2014, it was still largely an experimental technique. These include treatment of retinal disease Leber's congenital amaurosis, X-linked SCID, ADA-SCID, adrenoleukodystrophy, chronic lymphocytic leukemia (CLL), acute lymphocytic leukemia (ALL), multiple myeloma, haemophilia and Parkinson's disease. Between 2013 and April 2014, US companies invested over $600 million in the field.The first commercial gene therapy, Gendicine, was approved in China in 2003 for the treatment of certain cancers. In 2011 Neovasculgen was registered in Russia as the first-in-class gene-therapy drug for treatment of peripheral artery disease, including critical limb ischemia.In 2012 Glybera, a treatment for a rare inherited disorder, became the first treatment to be approved for clinical use in either Europe or the United States after its endorsement by the European Commission.