Rate Asymmetry After Genome Duplication Causes Substantial
... phylogenetic trees that relate these pairs to their orthologs in other species should show a single consistent topology. However, a previous study of gene pairs formed by WGD in the yeast Saccharomyces cerevisiae found conflicting topologies among neighbor-joining (NJ) trees drawn from different loc ...
... phylogenetic trees that relate these pairs to their orthologs in other species should show a single consistent topology. However, a previous study of gene pairs formed by WGD in the yeast Saccharomyces cerevisiae found conflicting topologies among neighbor-joining (NJ) trees drawn from different loc ...
Novel SIL1 mutations cause cerebellar ataxia and
... more complex clinical picture that includes also cataracts and myopathy. Krieger et al. identified SIL1 mutations in approximately 60 % of all patients with the full-blown phenotype of MSS—cerebellar ataxia, cataracts and myopathy— and concluded that this triad strongly suggest the presence of SIL1 ...
... more complex clinical picture that includes also cataracts and myopathy. Krieger et al. identified SIL1 mutations in approximately 60 % of all patients with the full-blown phenotype of MSS—cerebellar ataxia, cataracts and myopathy— and concluded that this triad strongly suggest the presence of SIL1 ...
c-fos Protein Can Induce Cellular Transformation: A Novel
... The FBJ murine osteosarcoma virus (FBJ-MuSV) is an acutely oncogenic retrovirus that arose by recombinational events rnvolving the FBJ murine leukemia virus and mouse genetic material (Curran et al., 1982). FBJ-MuSV causes osteosarcomas in mice and can transform tissue culture cells (Finkel et al., ...
... The FBJ murine osteosarcoma virus (FBJ-MuSV) is an acutely oncogenic retrovirus that arose by recombinational events rnvolving the FBJ murine leukemia virus and mouse genetic material (Curran et al., 1982). FBJ-MuSV causes osteosarcomas in mice and can transform tissue culture cells (Finkel et al., ...
The UCSC Known Genes
... candidate gene set. Alternative splicing isoforms are included as different entries, as long as they are represented by a UniProt protein and a transcript. The initial candidate gene set is further ranked and processed to select the best representative protein/mRNA for each gene and duplicates with ...
... candidate gene set. Alternative splicing isoforms are included as different entries, as long as they are represented by a UniProt protein and a transcript. The initial candidate gene set is further ranked and processed to select the best representative protein/mRNA for each gene and duplicates with ...
Clinical utility gene card for: Biotinidase deficiency
... If the test result is positive (please describe) In each case where molecular analysis confirmed the diagnosis of biotinidase deficiency, individuals should be treated with biotin. If the test result is negative (please describe) If molecular testing excluded the diagnosis of biotinidase deficiency, ...
... If the test result is positive (please describe) In each case where molecular analysis confirmed the diagnosis of biotinidase deficiency, individuals should be treated with biotin. If the test result is negative (please describe) If molecular testing excluded the diagnosis of biotinidase deficiency, ...
Carroll 2006 Fossil Genes
... T h e best explanation for why the gene became fossilized comes from consideration of the animals' ecology Surely, there must be some ...
... T h e best explanation for why the gene became fossilized comes from consideration of the animals' ecology Surely, there must be some ...
information about Schwannomatosis here.
... differentiating this diagnosis. The doctors there will undertake a series of tests to look for signs of NF2 including skin and eye checks, head and spine MRI scans and genetic testing. It may be necessary for the genetic testing to be done both on schwannomas that have been removed and blood samples ...
... differentiating this diagnosis. The doctors there will undertake a series of tests to look for signs of NF2 including skin and eye checks, head and spine MRI scans and genetic testing. It may be necessary for the genetic testing to be done both on schwannomas that have been removed and blood samples ...
A Guide to Conditions of the Retina
... Cornea: The cornea is the transparent outer layer of the eye that refracts, or redirects, light to a sharp focus at the retina. Lens: The lens is a transparent structure inside the eye that works with the cornea to focus. It fine-tunes images and allows us to see at various distances. Iris: The iris ...
... Cornea: The cornea is the transparent outer layer of the eye that refracts, or redirects, light to a sharp focus at the retina. Lens: The lens is a transparent structure inside the eye that works with the cornea to focus. It fine-tunes images and allows us to see at various distances. Iris: The iris ...
The Wiskott-Aldrich Syndrome and X-Linked
... severity of WAS-associated symptoms was scored from 1 to 5 , based on the following criteria. A score of 1 was given to patients with thrombocytopenia and small sized platelets, but without any other symptoms or clinical findings. Patients with platelet abnormalities and a history of mild, transient ...
... severity of WAS-associated symptoms was scored from 1 to 5 , based on the following criteria. A score of 1 was given to patients with thrombocytopenia and small sized platelets, but without any other symptoms or clinical findings. Patients with platelet abnormalities and a history of mild, transient ...
Spatial and temporal expression pattern of a novel gene in the frog
... to the NIDO domain, and nidogens were also retrieved in BLAST searches but with a much lower similarity score. A BLAST search using only the long 30 UTR retrieved no matches in any database. In order to confirm a-tectorin was the most similar, we performed a pair-wise sequence similarity comparison ...
... to the NIDO domain, and nidogens were also retrieved in BLAST searches but with a much lower similarity score. A BLAST search using only the long 30 UTR retrieved no matches in any database. In order to confirm a-tectorin was the most similar, we performed a pair-wise sequence similarity comparison ...
Amplification of AML1 on a duplicated chromosome 21 in
... This study presents a series of 20 patients with ALL, each with an abnormal marker chromosome of variable morphology, replacing one copy of a normal chromosome 21. The markers were composed entirely of chromosome 21 material, with multiple copies of the AML1 gene duplicated in tandem along their len ...
... This study presents a series of 20 patients with ALL, each with an abnormal marker chromosome of variable morphology, replacing one copy of a normal chromosome 21. The markers were composed entirely of chromosome 21 material, with multiple copies of the AML1 gene duplicated in tandem along their len ...
A Multifunctional Mutagenesis System for Analysis of Gene Function
... We screened 2790 F0 founders and successfully obtained 642 zebrafish lines with fluorescent reporter expression. Each line contains, on average, 4–6 Ds transposon insertions. We used the thermal asymmetric interlaced polymerase chain reaction (TAILPCR) method to identify genomic sequences flanking the ...
... We screened 2790 F0 founders and successfully obtained 642 zebrafish lines with fluorescent reporter expression. Each line contains, on average, 4–6 Ds transposon insertions. We used the thermal asymmetric interlaced polymerase chain reaction (TAILPCR) method to identify genomic sequences flanking the ...
Introduction to Angelfish Genetics
... Once I saw two adult angels in a pet store tank with a spawn of wigglers. The male was black and the female was gold. I wondered, what will the babies look like? ...
... Once I saw two adult angels in a pet store tank with a spawn of wigglers. The male was black and the female was gold. I wondered, what will the babies look like? ...
Pro-Apoptotic Role of the Human YPEL5 Gene Identified by
... localized in the nucleus and centrosome at interphase, whereas it relocates to the spindle pole, mitotic spindle, ...
... localized in the nucleus and centrosome at interphase, whereas it relocates to the spindle pole, mitotic spindle, ...
osteogenesis imperfecta
... disease was more fully recognised and more comprehensive classification systems were adopted. The system in common use today was presented by Sillence et al. (1979) and subdivides patients into four types based on disease severity and progression. However, it is appreciated that in reality the disor ...
... disease was more fully recognised and more comprehensive classification systems were adopted. The system in common use today was presented by Sillence et al. (1979) and subdivides patients into four types based on disease severity and progression. However, it is appreciated that in reality the disor ...
Linköping University Post Print S. aureus treatment plant
... exception of WR (Table 2). The mecA gene concentrations varied over time and between the different sampling sites when related to water volume, and to biomass expressed as amount of DNA (Fig. 2). Gene concentrations were shown to decrease during the wastewater treatment process (Fig. 2A), when the m ...
... exception of WR (Table 2). The mecA gene concentrations varied over time and between the different sampling sites when related to water volume, and to biomass expressed as amount of DNA (Fig. 2). Gene concentrations were shown to decrease during the wastewater treatment process (Fig. 2A), when the m ...
Determination of the molecular basis of Marfan syndrome: a growth
... larger alveoli, and developed emphysematous changes in the lungs as they aged. (22). The alteration in alveolar septation was corrected by treatment of the animals in utero with antibodies to TGF-β, which strongly implicates this molecule as a major factor in the abnormal pulmonary development seen ...
... larger alveoli, and developed emphysematous changes in the lungs as they aged. (22). The alteration in alveolar septation was corrected by treatment of the animals in utero with antibodies to TGF-β, which strongly implicates this molecule as a major factor in the abnormal pulmonary development seen ...
Escherichia coli synthetic genetic array
... synthetic genetic interactions are identified when specific combinations of mutations cause cell death (synthetic lethality) or retard growth (synthetic sickness). Such aggravating genetic interactions often occur when two nonessential gene products impinge on the same essential cellular process or ...
... synthetic genetic interactions are identified when specific combinations of mutations cause cell death (synthetic lethality) or retard growth (synthetic sickness). Such aggravating genetic interactions often occur when two nonessential gene products impinge on the same essential cellular process or ...
the regulation of the differential expression of the human globin
... below) is segregating in these families. This is not always the case, however. Another approach to this problem has been developed recently. Scattered throughout the ¡3 globin gene cluster there are a number of restriction fragment length polymorphisms (R F L P s ), which can be used as genetic mark ...
... below) is segregating in these families. This is not always the case, however. Another approach to this problem has been developed recently. Scattered throughout the ¡3 globin gene cluster there are a number of restriction fragment length polymorphisms (R F L P s ), which can be used as genetic mark ...
Localized hypermutation and associated gene losses in legume
... Carlow, Ireland Point mutations result from errors made during DNA replication or repair, so they are usually expected to be homogeneous across all regions of a genome. However, we have found a region of chloroplast DNA in plants related to sweetpea (Lathyrus) whose local point mutation rate is at l ...
... Carlow, Ireland Point mutations result from errors made during DNA replication or repair, so they are usually expected to be homogeneous across all regions of a genome. However, we have found a region of chloroplast DNA in plants related to sweetpea (Lathyrus) whose local point mutation rate is at l ...
It`s All In The Genes - American Maine
... from this mating have a 50% chance of being heterozygous black (Bb - a black calf with one black and one red allele) and a 50% chance of being born red (bb). For the recessive gene to be displayed in the phenotype (i.e. for you to see it), the calf must inherit this gene from both parents. The same ...
... from this mating have a 50% chance of being heterozygous black (Bb - a black calf with one black and one red allele) and a 50% chance of being born red (bb). For the recessive gene to be displayed in the phenotype (i.e. for you to see it), the calf must inherit this gene from both parents. The same ...
Guidelines for genetic studies in single patients
... cell lines but also recent path-breaking approaches, such as iPSC (Takahashi et al., 2007; Takahashi and Yamanaka, 2013) and gene editing, especially with CRISPR/Cas9 (Marraffini and Sontheimer, 2010; Wiedenheft et al., 2012; Cong et al., A defense of single-patient studies | Casanova et al. ...
... cell lines but also recent path-breaking approaches, such as iPSC (Takahashi et al., 2007; Takahashi and Yamanaka, 2013) and gene editing, especially with CRISPR/Cas9 (Marraffini and Sontheimer, 2010; Wiedenheft et al., 2012; Cong et al., A defense of single-patient studies | Casanova et al. ...
UV-A1 Therapy for Nephrogenic Systemic Fibrosis
... Background: Nephrogenic systemic fibrosis (NSF) is a rare sclerosing skin condition associated with endstage renal disease and gadolinium exposure. Therapy for NSF is challenging, with few options other than preventing exposure to gadolinium and improving renal function through transplant. However, ...
... Background: Nephrogenic systemic fibrosis (NSF) is a rare sclerosing skin condition associated with endstage renal disease and gadolinium exposure. Therapy for NSF is challenging, with few options other than preventing exposure to gadolinium and improving renal function through transplant. However, ...
Genetic testing in couples with infertility
... An important aspect for prognosis and therapeutic options is the existence of genetic mosaicism. Mosaicism is defined as the presence of at least two cell lines with different karyotypes, which have developed from a single fertilized egg. The high incidence of mosaicisms in Turner syndrome of 50% is ...
... An important aspect for prognosis and therapeutic options is the existence of genetic mosaicism. Mosaicism is defined as the presence of at least two cell lines with different karyotypes, which have developed from a single fertilized egg. The high incidence of mosaicisms in Turner syndrome of 50% is ...
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.