599 KB - CSIRO Publishing
... end of the human Y (Simpson et al. 1987). In fact, HYA turns out to be an amalgam of products, different in different animals; any product of a widely expressed Y gene will contribute malespecific determinants. The hunt for TDF really revved up in the 1980s, when it became at least theoretically poss ...
... end of the human Y (Simpson et al. 1987). In fact, HYA turns out to be an amalgam of products, different in different animals; any product of a widely expressed Y gene will contribute malespecific determinants. The hunt for TDF really revved up in the 1980s, when it became at least theoretically poss ...
Spinal muscular atrophy: diagnosis, treatment and future prospects R A
... than arms and arms are more affected than the face and diaphragm.8,12 In other words, muscle weakness and atrophy does not have a homogeneous distribution. The severity of muscle weakness is related to age at onset and children with the most severe form of the disease (Type I SMA) can appear normal ...
... than arms and arms are more affected than the face and diaphragm.8,12 In other words, muscle weakness and atrophy does not have a homogeneous distribution. The severity of muscle weakness is related to age at onset and children with the most severe form of the disease (Type I SMA) can appear normal ...
How study design affects outcomes in comparisons of - IME-USP
... Among the disciplines, respiratory medicine had the highest proportion of randomized controlled trials (67 per cent) followed by cardiology and neurology (45 per cent), while psychiatry had no comparisons that used this design. Non-random sequential studies represented 45 per cent of comparisons in ...
... Among the disciplines, respiratory medicine had the highest proportion of randomized controlled trials (67 per cent) followed by cardiology and neurology (45 per cent), while psychiatry had no comparisons that used this design. Non-random sequential studies represented 45 per cent of comparisons in ...
Poster Abstracts - The New York Academy of Sciences
... Illinois, United States Background: The lifespan of patients with thalassemia has increased due to advances in monitoring and treatment. Adolescents with thalassemia face challenges with transitioning from child-centered to adultoriented care. Lurie Children’s Hospital developed “Step-Up”, a thalass ...
... Illinois, United States Background: The lifespan of patients with thalassemia has increased due to advances in monitoring and treatment. Adolescents with thalassemia face challenges with transitioning from child-centered to adultoriented care. Lurie Children’s Hospital developed “Step-Up”, a thalass ...
Special Report on Genetics and: Gout 23 Selected Articles From 199
... * Ctrl+Click on the blue hyperlinks to see the full citations in PubMed®; any articles marked as "Free" can be downloaded in PDF format by following the link provided there. This listing is a selected subset of those found on PubMed® with emphasis on the interplay between genetics and the environmen ...
... * Ctrl+Click on the blue hyperlinks to see the full citations in PubMed®; any articles marked as "Free" can be downloaded in PDF format by following the link provided there. This listing is a selected subset of those found on PubMed® with emphasis on the interplay between genetics and the environmen ...
MEDICAL BIOLOGY
... the individuals give several sorts of gametes (2 ) Genotype - refers to the sum total of genes inherited from both the parents which provides individual development (ontogenesis) and formation of phenotype. Phenotype – refers to the detectable or observable structural and functional characters by th ...
... the individuals give several sorts of gametes (2 ) Genotype - refers to the sum total of genes inherited from both the parents which provides individual development (ontogenesis) and formation of phenotype. Phenotype – refers to the detectable or observable structural and functional characters by th ...
What is the Gene Trying to Do?
... of any genotype is a fixed constant (and is not, for example, frequency-dependent) which remains unchanged from generation to generation. Only viability fitnesses are considered. The FTNS also assumes in effect an infinitely large population in which random changes of gene frequency do not arise. Some ...
... of any genotype is a fixed constant (and is not, for example, frequency-dependent) which remains unchanged from generation to generation. Only viability fitnesses are considered. The FTNS also assumes in effect an infinitely large population in which random changes of gene frequency do not arise. Some ...
Goal-oriented therapy in pulmonary veno-occlusive disease: a word of caution
... is, when to maintain a therapy, when to switch from one medication to another and when to combine several medications. As an inadequate response to first-line PAH medical treatments is frequently observed in PVOD patients [1], it is ...
... is, when to maintain a therapy, when to switch from one medication to another and when to combine several medications. As an inadequate response to first-line PAH medical treatments is frequently observed in PVOD patients [1], it is ...
Article PDF
... A definitive confirmation of diagnosis is dependent on microscopic, histopathological and microbiological documentation. Yet unlike Candida endocarditis, blood cultures as entailed in Duke’s criteria are almost always negative (in 70%–89% of cases) and isolation in embolic material or affected tissu ...
... A definitive confirmation of diagnosis is dependent on microscopic, histopathological and microbiological documentation. Yet unlike Candida endocarditis, blood cultures as entailed in Duke’s criteria are almost always negative (in 70%–89% of cases) and isolation in embolic material or affected tissu ...
Level 3, 2004
... gave accounts for allele interactions, gene-gene interactions and factors that affect gene expression. Candidates need to have clear understanding of the concepts and process in the explanatory notes of the achievement standard. Candidates gaining Achievement could competently use Punnett squares an ...
... gave accounts for allele interactions, gene-gene interactions and factors that affect gene expression. Candidates need to have clear understanding of the concepts and process in the explanatory notes of the achievement standard. Candidates gaining Achievement could competently use Punnett squares an ...
Nucleotide Polymorphisms in the 2 Gene Define
... In the present study, we have continued our analysis of the a2 gene to determine if additional sequence polymorphisms exist that are associated with the 807 and 873 polymorphisms and with expression levels of a2b1. Analysis of a larger group of individuals has now led to the identification of an add ...
... In the present study, we have continued our analysis of the a2 gene to determine if additional sequence polymorphisms exist that are associated with the 807 and 873 polymorphisms and with expression levels of a2b1. Analysis of a larger group of individuals has now led to the identification of an add ...
Connective Tissue Disorders 61 Gene Panel
... glue’ that gives tissues form and strength, as well as helping them function. Connective tissue disorders often affect bones, muscles, and skin although organs such as the eyes, heart, lungs, kidneys, brain, gastrointestinal tract, and blood vessels can also be involved. Symptoms of a connective tis ...
... glue’ that gives tissues form and strength, as well as helping them function. Connective tissue disorders often affect bones, muscles, and skin although organs such as the eyes, heart, lungs, kidneys, brain, gastrointestinal tract, and blood vessels can also be involved. Symptoms of a connective tis ...
Wahl 77-81 - Suffolk Root Canal
... to be cautious and prevent lawsuits. A physician or dentist can be sued for an unwanted outcome regardless of what the practitioner may have done (although the case will not proceed for long unless it has substance).58 Data collected from 1985 to 1991 by the Physician Insurers Association of America ...
... to be cautious and prevent lawsuits. A physician or dentist can be sued for an unwanted outcome regardless of what the practitioner may have done (although the case will not proceed for long unless it has substance).58 Data collected from 1985 to 1991 by the Physician Insurers Association of America ...
Justification of Size Estimates for Tomato Genome Sequencing
... Additional Information. When the sequencing project is advanced to the stage where BAC contigs can be assayed for both total non-redundant sequence length and physical distance based on in situ hybridization, we will be able to develop an additional estimate of euchromatin physical size through vali ...
... Additional Information. When the sequencing project is advanced to the stage where BAC contigs can be assayed for both total non-redundant sequence length and physical distance based on in situ hybridization, we will be able to develop an additional estimate of euchromatin physical size through vali ...
A series of vectors for fungal transformation
... We have modified three dominant selectable markers for fungal transformation. First, we cloned a sulfonylurea resistant allele of the Magnaporthe grisea ILV1 gene using the Saccharomyces cerevisiae ILV2 gene as a heterologous probe. These genes encode acetolactate synthase, an enzyme involved in iso ...
... We have modified three dominant selectable markers for fungal transformation. First, we cloned a sulfonylurea resistant allele of the Magnaporthe grisea ILV1 gene using the Saccharomyces cerevisiae ILV2 gene as a heterologous probe. These genes encode acetolactate synthase, an enzyme involved in iso ...
Platelet antigens and antibody detection
... as often too few platelets can be obtained from thrombocytopenic patients, and reliable serotyping reagents for HPA antigens, other than HPA-1a and HPA-5b, are rare. HPA antisera often contain human leucocyte antigens (HLA) class I antibodies, thus limiting their use to GP-specific assays such as th ...
... as often too few platelets can be obtained from thrombocytopenic patients, and reliable serotyping reagents for HPA antigens, other than HPA-1a and HPA-5b, are rare. HPA antisera often contain human leucocyte antigens (HLA) class I antibodies, thus limiting their use to GP-specific assays such as th ...
The 10 autosomal recessive limb-girdle muscular - Genoma
... Although there is a marked inter and intrafamilial heterogeneity in the severity of the clinical course in LGMD2A muscular dystrophy [2,23,44] it has been suggested that on an average missense mutations are usually associated to a milder phenotype than null mutations [23,27,30]. We have compared Bra ...
... Although there is a marked inter and intrafamilial heterogeneity in the severity of the clinical course in LGMD2A muscular dystrophy [2,23,44] it has been suggested that on an average missense mutations are usually associated to a milder phenotype than null mutations [23,27,30]. We have compared Bra ...
Japanese morning glory dusky mutants displaying reddish
... the petunia UDP-rhamnose:anthocyanidin 3-O-glucoside-6¢¢-O-rhamnosyltransferase (3RT), which controls the addition of a rhamnose molecule to anthocyanidin 3-O-glucosides for conversion into anthocyanidin 3-O-rutinosides. All of the 30 dusky mutants tested were found to carry the 4-bp insertion mutat ...
... the petunia UDP-rhamnose:anthocyanidin 3-O-glucoside-6¢¢-O-rhamnosyltransferase (3RT), which controls the addition of a rhamnose molecule to anthocyanidin 3-O-glucosides for conversion into anthocyanidin 3-O-rutinosides. All of the 30 dusky mutants tested were found to carry the 4-bp insertion mutat ...
Combination versus sequential monotherapy in chronic HBV
... reproduces itself through a pre-genomic RNA phase, accounting for the presence of heterogeneous strains in the viral progeny [37, 44]. The mutations are pre-adaptive, linked to random errors of the polymerase enzyme, especially in the RNA phase of the replicative process. Hence, the antiviral therap ...
... reproduces itself through a pre-genomic RNA phase, accounting for the presence of heterogeneous strains in the viral progeny [37, 44]. The mutations are pre-adaptive, linked to random errors of the polymerase enzyme, especially in the RNA phase of the replicative process. Hence, the antiviral therap ...
PDF檔案下載 - 益腹寧Infloran
... recovery from rotavirus gastroenteritís. However, the efficacy of oral bacterial therapy in children without rotavirus could be related to an antimicrobial substance that inhíbits the growth of Gram-negative and Grampositive bacteria. 19 Oral bacterial therapy was e旺ective both in patients with rota ...
... recovery from rotavirus gastroenteritís. However, the efficacy of oral bacterial therapy in children without rotavirus could be related to an antimicrobial substance that inhíbits the growth of Gram-negative and Grampositive bacteria. 19 Oral bacterial therapy was e旺ective both in patients with rota ...
Cancer Prone Disease Section Multiple osteochondromas (MO) Atlas of Genetics and Cytogenetics
... Expression: Both 1 and 2 mRNA is ubiquitously expressed. A high level of expression of EXT1 and EXT2 mRNA has been found in developing limb buds of mouse embryos and expression was demonstrated to be confined to the proliferating and prehypertrophic chondrocytes of the growth plate. Function: A tumo ...
... Expression: Both 1 and 2 mRNA is ubiquitously expressed. A high level of expression of EXT1 and EXT2 mRNA has been found in developing limb buds of mouse embryos and expression was demonstrated to be confined to the proliferating and prehypertrophic chondrocytes of the growth plate. Function: A tumo ...
Cloning, DNA nucleotide sequence and distribution
... Indeed, DNA hybridization studies have shown considerable nucleotide sequence divergence amongst type 1 fimbrial subunit sequences of Enterobacteriaceae (Buchanan et al., 1985). Other major classes of fimbriae reported in Salmonella are type 2, morphologically similar to type 1 but which do not aggl ...
... Indeed, DNA hybridization studies have shown considerable nucleotide sequence divergence amongst type 1 fimbrial subunit sequences of Enterobacteriaceae (Buchanan et al., 1985). Other major classes of fimbriae reported in Salmonella are type 2, morphologically similar to type 1 but which do not aggl ...
Ulcerative colitis-moderately and severely active
... 1.2 The choice of treatment between infliximab, adalimumab or golimumab should be made on an individual basis after discussion between the responsible clinician and the patient about the advantages and disadvantages of the treatments available. This should take into consideration therapeutic need an ...
... 1.2 The choice of treatment between infliximab, adalimumab or golimumab should be made on an individual basis after discussion between the responsible clinician and the patient about the advantages and disadvantages of the treatments available. This should take into consideration therapeutic need an ...
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.