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this PDF file - E-Journal Faculty of Medicine Universitas
this PDF file - E-Journal Faculty of Medicine Universitas

... the normal children. This is in accordance with ...
Gene Section member 2)) Atlas of Genetics and Cytogenetics
Gene Section member 2)) Atlas of Genetics and Cytogenetics

... TNF superfamily currently has 19 well-characterized members. Other members, such as TNFSF19, TNFSF21, and TNFSF22 have not been wellestablished. Although each member has its own receptor preference, a functional overlapping, such as induction of apoptosis and NF-kB activation, has been observed amon ...
Complete Sequence of the Mitochondrial DNA of
Complete Sequence of the Mitochondrial DNA of

... Gastropoda. Mitochondrial gene arrangements of these three molluscan classes are highly divergent from each other, with only a few gene boundaries shared among them (Yamazaki et al. 1997). Mitochondrial gene contents, as well as gene arrangements, are also variable within these molluscs. The Mytilus ...
PDF
PDF

... Interphase between Meiosis I and Meiosis II and Promote the 2nd Meiotic Division. PLoS Genet 10(6): e1004444. doi:10.1371/journal.pgen.1004444 Editor: Patricia A. Hunt, Washington State University, United States of America ...
The 10 autosomal recessive limb-girdle muscular - Genoma
The 10 autosomal recessive limb-girdle muscular - Genoma

... 5. LGMD2B—dysferlinopathies This form of LGMD includes Miyoshi myopathy (MM), a distal muscle disorder that preferentially affects the gastrocnemius muscle or LGMD type 2B with characteristic proximal weakness at onset. Although the initial presentation may be different the distinction between patie ...
Antley-Bixler syndrome or POR deficiency?
Antley-Bixler syndrome or POR deficiency?

... suggested as a disorder with an autosomal dominant mode of inheritance. This presumption was based on three cases of ABS which occurred in siblings (7-9) and two cases of ABS born to consanguineous couples (10, 11). Although Suyuki´s siblings (9) and Yasuia´s children of the consanguineous couple (1 ...
The Incompatible Desiderata of Gene Cluster Properties
The Incompatible Desiderata of Gene Cluster Properties

... function. Spatial analyses of orthologous genomes focus on elucidating evolutionary processes and history, and on constructing comparative maps that facilitate the transfer of knowledge between organisms [1,2]. Conserved segments between different genomes have been used extensively to reconstruct th ...
Molecular basis for the deficiency in humans of gulonolactone
Molecular basis for the deficiency in humans of gulonolactone

... at amino acid residue I 89, and deletion of the G at nucleotide position I and the Cs at positions 1460 and 2097 of the previous sequence. The amino-terminal amino acid sequence determined by the sequence analysis of purified rat liven GLO is underlined. Adapted from Koshizaka et al (5). ...
Disruption of an N-acetyltransferase gene in the
Disruption of an N-acetyltransferase gene in the

... according to published literature (True, 2003; Wittkopp et al., 2003a; Arakane et al., 2009)] is illustrated in the center (see Discussion). (A)Adult wildtype (+/+) and mln mutant (mln/mln) Bombyx mori. (B)Regional pigmentation phenotypes of mln and wild-type larvae. In mln, the head and forelegs ...
-Chain Gene in Epididymis α Expression of the C4b
-Chain Gene in Epididymis α Expression of the C4b

... followed by the C-terminal region and were identified as the previously isolated sperm protein, AM67 (11). The other nine clones encoded a new protein, composed of eight SCRs followed by a C-terminal region, similar to C4BP␣ of other animals (except for mice) (21–25), and the protein-coding region s ...
BMC Genomics
BMC Genomics

... dramatically. Plant rhizospheres are one of the most typical natural reservoirs for these pathogens but they also represent a great source for beneficial microbes with potential for biotechnological applications. However, understanding the natural variation and possible differences between pathogens ...
Genetics: Mendelian Genetics Patterns of Inheritance
Genetics: Mendelian Genetics Patterns of Inheritance

... recessive but can be partially dominant or codominant 7.Environmental factors can induce variations in traits ...
Selection Vector for Direct Cloning of Proof Reading Polymerase
Selection Vector for Direct Cloning of Proof Reading Polymerase

... transformants. These were screened for PCR product incorporation. We found all clones analyzed to have correctly incorporated both of the 1.3 kbp PCR products (CDS of PAR3 and 4).Similarly in 6 out of the 7 clones analyzed the 2.2 kbp CDS (encoding thrombomodulin) was present. The overall success ra ...
Leukaemia Section t(2;3)(p21;q26) THADA/MECOM Atlas of Genetics and Cytogenetics in Oncology and Haematology
Leukaemia Section t(2;3)(p21;q26) THADA/MECOM Atlas of Genetics and Cytogenetics in Oncology and Haematology

... Clinics and pathology Disease Acute myeloid leukemia (AML) ...
599 KB - CSIRO Publishing
599 KB - CSIRO Publishing

... called HYA (for Human Antigen on the Y) (Ohno 1978). The search for HYA went on for many years before it was ruled out as the sex-determining gene because it mapped at the wrong end of the human Y (Simpson et al. 1987). In fact, HYA turns out to be an amalgam of products, different in different anim ...
Unearthing the Roles of Imprinted Genes in the Placenta
Unearthing the Roles of Imprinted Genes in the Placenta

Klotho interferes with a novel FGF-signalling pathway and
Klotho interferes with a novel FGF-signalling pathway and

... gene products (479 and 475 amino-acids, respectively) are 76% identical and share 32 to 34% amino acid identity with their mammalian counterparts. Interestingly, both C. elegans predicted gene products consist of a sole β-glucosidase-like domain that is homologous to the highly conserved KL1 domain ...
Elucidating the Role of Gonadal Hormones in Sexually
Elucidating the Role of Gonadal Hormones in Sexually

... been shown to be sexually differentiated, mainly due to gonadal hormones causing differences in GH. Studies have indicated that sex differences in hepatic steroid metabolism may support a pregnant state when the liver is exposed to high continuous levels of steroid hormones (12). Thus, tissue-specif ...
Gene–Nutrition Interaction in Human Performance and Exercise
Gene–Nutrition Interaction in Human Performance and Exercise

... nutritional intake has been established as a primary factor affecting human performance. In addition, a growing body of research has provided support for the notion that response to exercise training may be influenced by genetic variation. Evidence that DNA sequence variation exists within human pop ...
Reliable classification of two-class cancer data using evolutionary
Reliable classification of two-class cancer data using evolutionary

... of samples available is small when compared to the gene pool size. This aspect makes it difficult to identify which and how many genes are correlated with different classifications. It is a common practice in machine learning algorithms to divide the available data sets into two groups: one used for ...
genetic studies of the human complement c4 region in mhc class iii
genetic studies of the human complement c4 region in mhc class iii

... Complement activation leads to opsonization of microbes, chemotaxis of phagocytic cells, direct lysis of microbes and infected cells, and clearance of immune complexes6. Complement is effective in eliminating gram-negative bacteria, some viruses and virus infected or apoptotic cells7. Complement pla ...
Screening of a Specific Point Mutation in Tumor Suppressor p53
Screening of a Specific Point Mutation in Tumor Suppressor p53

... carcinoma sample. Even though this particular point mutation was not found in Korean samples, there might be mutations at other sites of p53 gene, because expression of mutated p53 gene was detected in the nuelei of hepatocellular carcinoma samples by using monoelonal antibodies which are specific f ...
Mathematical Modeling: Hardy-Weinberg
Mathematical Modeling: Hardy-Weinberg

... amongst students with no known selective advantage. The ability to taste the chemical phenylthiocarbamide, PTC, is one such human trait. The ability to taste PTC is due to the presence of a dominant allele, T. Therefore, all tasters will either be homozygous, TT, or heterozygous, Tt. Non-tasters wil ...
illuminaHumanv3.db October 28, 2014
illuminaHumanv3.db October 28, 2014

... Whenever any of these mappings are cast as a data.frame, all the results will be output in an appropriate tabular form. Mappings between manufacturer identifiers and GO information were obtained through their mappings to manufacturer identifiers. NAs are assigned to manufacturer identifiers that can ...
Two ParaHox genes, SpLox and SpCdx, interact to
Two ParaHox genes, SpLox and SpCdx, interact to

... In vertebrates, regionalization of the gut has been shown to be under the late control of homeobox genes, in particular the members of the so-called ParaHox class. The genes are called gsx, xLox and cdx in chordates, where the three have been identified (Brooke et al., 1998). In insects only ortholo ...
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Gene nomenclature

Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and full guidelines were issued in 1979 (Edinburgh Human Genome Meeting). Several other species-specific research communities (e.g., Drosophila, mouse) have adopted nomenclature standards, as well, and have published them on the relevant model organism websites and in scientific journals, including the Trends in Genetics Genetic Nomenclature Guide. Scientists familiar with a particular gene family may work together to revise the nomenclature for the entire set of genes when new information becomes available. For many genes and their corresponding proteins, an assortment of alternate names is in use across the scientific literature and public biological databases, posing a challenge to effective organization and exchange of biological information. Standardization of nomenclature thus tries to achieve the benefits of vocabulary control and bibliographic control, although adherence is voluntary. The advent of the information age has brought gene ontology, which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product attributes across all species.Gene nomenclature and protein nomenclature are not separate endeavors; they are aspects of the same whole. Any name or symbol used for a protein can potentially also be used for the gene that encodes it, and vice versa. But owing to the nature of how science has developed (with knowledge being uncovered bit by bit over decades), proteins and their corresponding genes have not always been discovered simultaneously (and not always physiologically understood when discovered), which is the largest reason why protein and gene names do not always match, or why scientists tend to favor one symbol or name for the protein and another for the gene. Another reason is that many of the mechanisms of life are the same or very similar across species, genera, orders, and phyla, so that a given protein may be produced in many kinds of organisms; and thus scientists naturally often use the same symbol and name for a given protein in one species (for example, mice) as in another species (for example, humans). Regarding the first duality (same symbol and name for gene or protein), the context usually makes the sense clear to scientific readers, and the nomenclatural systems also provide for some specificity by using italic for a symbol when the gene is meant and plain (roman) for when the protein is meant. Regarding the second duality (a given protein is endogenous in many kinds of organisms), the nomenclatural systems also provide for at least human-versus-nonhuman specificity by using different capitalization, although scientists often ignore this distinction, given that it is often biologically irrelevant.Also owing to the nature of how scientific knowledge has unfolded, proteins and their corresponding genes often have several names and symbols that are synonymous. Some of the earlier ones may be deprecated in favor of newer ones, although such deprecation is voluntary. Some older names and symbols live on simply because they have been widely used in the scientific literature (including before the newer ones were coined) and are well established among users.
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