AMYB_SOYBN_svm.dis:
10617198: The higher plant Arabidopsis thaliana ( Arabidopsis ) is an important model for identifying plant genes and determining their function .
10617198: Analysis of 17.38 megabases of unique sequence , representing about 17 % of the genome , reveals 3,744 protein coding genes , 81 transfer RNAs and numerous repeat elements .
10617198: Roughly 60 % of the predicted protein-coding genes have been functionally characterized on the basis of their homology to known genes .
8334116: Between the two regions is a cleft that opens into a pocket whose floor contains the postulated catalytic center near the carboxyl group of Glu 186 .
9461215: The plant Arabidopsis thaliana ( Arabidopsis ) has become an important model species for the study of many aspects of plant biology .
9461215: Other interesting features were found , such as the sequence of a disease-resistance gene locus , the distribution of retroelements , the frequent occurrence of clustered gene families , and the sequence of several classes of genes not previously encountered in plants .
2474529: It was concluded that the carboxylate of Glu-186 is a functional group at the catalytic site of soybean beta-amylase .


ANXB_HUMAN_svm.dis:
7508441: Anti-56K autoantibodies are present in sera from patients with various autoimmune diseases , predominantly in sera from patients with rheumatoid arthritis , systemic lupus erythematosus , or Sjögren 's syndrome .
7508441: Patients ' sera recognize preferentially the N-terminal region of the protein , which is specific for 56K / annexin XI and not shared by other annexins , indicating that the autoimmune response to 56K / annexin XI in these patients is specific for this annexin family member .
11013079: Distinct cDNA isoforms in cow and human were determined to be unique to each species and hence of dubious general significance for this gene 's function .
8938449: Knowledge of the mouse cDNA sequence and genetic map location will assist in the analysis of genomic organization and expression and provide a useful animal model to investigate gene function and hereditary phenotype for annexin XI .


BRS3_HUMAN_svm.dis:
8131855: This subtype of bombesin receptor is expressed in the pregnant uterus and in two human tumour cell lines , T47D ( ductal breast carcinoma ) and A431 ( epidermal carcinoma ) .
9573346: Nothing is known about mechanisms regulating BRS-3 gene expression and possible association with disease .
8383682: The bombesin (BN)-like peptides mediate a diverse spectrum of biological activities and have been implicated as autocrine growth factors in the pathogenesis and progression of some human small cell lung carcinoma tumors .
8383682: In this study , we have isolated and characterized human genomic and complementary DNA ( cDNA ) clones encoding a new BN-like peptide receptor subtype , BN receptor subtype 3 ( BRS-3 ) .
8383682: These results suggest a role for BN-like peptides and their receptors in mammalian reproductive physiology and also indicate that BRS-3 could serve as a potential therapeutic target for human lung carcinoma .
10425452: Highly conserved amino acids important in mediating receptor G-protein coupling to second messengers and important in ligand binding were found to be conserved in ovine BRS-3 .


CB2R_HUMAN_svm.dis:
9261404: A new common region of virus integration , Evi11 , has been identified in two retrovirally induced murine myeloid leukemia cell lines , NFS107 and NFS78 .
9261404: In addition , proviral integrations were demonstrated within the 3 ' untranslated region of Cnr2 in five independent newly derived CasBrM-MuLV ( mouse murine leukemia virus ) tumors , CSL13 , CSL14 , CSL16 , CSL27 , and CSL97 .


DVL3_MOUSE_svm.dis:
8922524: The region of highest conservation between all three Dvl coding regions , at 97 % identity , is noted at the PDZ domain ( also termed the DHR domain or GLGF motif ) , a motif of 60 amino acids present in all dishevelled encoded proteins and first described in the Drosophila discs large ( dlg ) tumor suppressor gene .
8817329: Although the precise role of these genes in embryogenesis is only conjectural at present , the structural and evolutionary characteristics suggest that mutations at their loci may be involved in neural and heart developmental defects .
11354832: Furthermore , DVL-1 is involved in the Notch signalling system , which plays a role in the disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy , the symptoms of , which include ischaemic stroke .
8644734: DiGeorge syndrome ( DGS ) is a developmental defect of some of the neural crest derivatives .
8644734: Most DGS patients show haploinsufficiency due to interstitial deletions of the proximal long arm of chromosome 22 .
8644734: Deletions of 22q11 have also been reported with patients with the velocardio-facial syndrome and familial conotruncal heart defects .
8644734: It has been suggested that the wide phenotype spectrum associated with 22q11 monosomy is a consequence of contiguous-gene deletions .
8644734: Since DGS may be due to perturbation of differentiation mechanisms at decisive embryological stages , a Dsh-like gene in the small-region overlap ( SRO ) might be a candidate for the pathogenesis of this disorder .
7744250: Wg signaling generates a hyperphosphorylated form of Dsh , which is associated with a membrane fraction .
8149913: Clonal analysis of dishevelled in leg discs provides a unique opportunity to test the hypothesis that the wingless dishevelled interaction species at least one of the circumferential positional values predicted by the polar coordinate model .
9192851: Two of these regions do not exhibit significant sequence similarity with other known proteins ; the third is similar to the discs-large homology region , which was first found in a Drosophila Discs-large tumor suppressor protein ( also known as GLGF or PDZ domain ) .
9298901: Thus , Dvl1 mutants may provide a model for aspects of several human psychiatric disorders .
9298901: These results are consistent with an interpretation that common genetic mechanisms underlie abnormal social behavior and sensorimotor gating deficits and implicate Dvl1 in processes underlying complex behaviors .
9344861: dishevelled ( Dsh ) is a member of the segment polarity gene family in Drosophila which plays an important role in the early developmental patterning processes .
7958461: While no functional motifs were identified , one region of Dvl-1 was found to be similar to a domain of discs large-1 ( dlg ) , a Drosophila tumor suppressor gene .


ELIA_PHYCP_svm.dis:
2776750: 85 % identity was observed between both sequences : only two short terminal regions are heterologous , while the central core is entirely conserved .
8994969: BACKGROUND : Elicitins form a novel class of plant necrotic proteins which are secreted by Phytophthora and Pythium fungi , parasites of many economically important crops .
2583277: The phytopathogenic fungi Phytophthora cinnamomi cause systemic leaf necrosis on its non-host tobacco ; in culture , it secretes a protein , called cinnamomin , which elicits leaf necrosis and protects tobacco against the pathogen Phytophthora nicotianoe , in a way similar to cryptogein and different from capsicein , elicitins of known amino acid sequences .


FLGK_ECOLI_svm.dis:
11677609: Salmonella enterica subspecies I , serovar Typhimurium ( S. typhimurium ) , is a leading cause of human gastroenteritis , and is used as a mouse model of human typhoid fever .
11677609: The incidence of non-typhoid salmonellosis is increasing worldwide , causing millions of infections and many deaths in the human population each year .
11677609: The 352 gene homologues of S. typhimurium LT2 confined to subspecies I of S. enterica-containing most mammalian and bird pathogens-are useful for studies of epidemiology , host specificity and pathogenesis .
9278503: Comparison with five other sequenced microbes reveals ubiquitous as well as narrowly distributed gene families ; many families of similar genes within E. coli are also evident .
8905232: This region contains at least 681 potential open reading frames , of which 277 ( 41 % ) have been previously identified , 147 ( 22 % ) are homologous to other known genes , 139 ( 20 % ) are identical or similar to the hypothetical genes registered in databases , and the remaining 118 ( 17 % ) do not show a significant similarity to any other gene .
8905232: In this region , we assigned a cluster of cit genes encoding multienzyme citrate lyase , two clusters of fimbrial genes and a set of lysogenic phage genes encoding integrase , excisionase and repressor in the e 14 genetic element .
2193164: We suggest that this is likely to be true of the other axial structures as well , and specifically that interaction between N-terminal and C-terminal alpha-helices may be important in the formation of the axial structures of the flagellum .
11677608: Salmonella enterica serovar Typhi ( S. typhi ) is the aetiological agent of typhoid fever , a serious invasive bacterial disease of humans with an annual global burden of approximately 16 million cases , leading to 600,000 fatalities .
11677608: Here we have sequenced the 4,809,037-base pair ( bp ) genome of a S. typhi ( CT18 ) that is resistant to multiple drugs , revealing the presence of hundreds of insertions and deletions compared with the Escherichia coli genome , ranging in size from single genes to large islands .
11677608: Notably , the genome sequence identifies over two hundred pseudogenes , several corresponding to genes that are known to contribute to virulence in Salmonella typhimurium .
11677608: This genetic degradation may contribute to the human-restricted host range for S. typhi .


GAA6_CHICK_svm.dis:
11992121: Although many genes that predispose for epilepsy in humans have been determined , those that underlie the classical syndromes of idiopathic generalized epilepsy ( IGE ) have yet to be identified .
11992121: Our results confirm that mutation of GABRA1 predisposes towards a common idiopathic generalized epilepsy syndrome in humans .
10602120: Rett syndrome ( RTT ) is an X-linked dominant neurodevelopmental disorder that affects females .
10602120: Six candidate genes were selected for mutation analysis based on their established expression patterns and known functions in the CNS .
10602120: No disease-causing mutations were found , but several single-nucleotide polymorphisms ( SNPs ) were detected .
10602120: These SNPs will be useful in future linkage analysis and whole-genome association studies for other diseases .
9339354: The GABRE gene extends over 14 kb and is clustered together with the alpha 3 and the putative beta 4 GABAA receptor subunit genes in an approximately 0.8-Mb interval in chromosome band Xq28 , located in the candidate regions of two different neurologic diseases .
9339354: Based on features of conservation of protein sequences , gene structure , and genomic organization of GABAA receptor gene clusters , we propose that the epsilon and gamma subunit genes have a common ancestor and that GABAA receptor gene clusters in the human genome have diverged by multiple duplication events of an ancestral gene cluster containing one each alpha , beta , and gamma / epsilon precursor gene .
1660002: The gamma 3-subunit could functionally replace the gamma 2-subunit with regard to the bi-directional allosteric drug modulation .
2842688: Neurotransmitter action at the GABAA receptor is potentiated by both benzodiazepines and barbiturates which are therapeutically useful drugs ( reviewed in ref .
2842688: Highly homologous receptor subtypes which differ functionally seem to be a common feature of brain receptors .
2166916: We conclude that this alpha-subunit is part of a cerebellar receptor subtype , selective for Ro15-4513 , an antagonist of alcohol-induced motor incoordination and ataxia .
7607683: Moreover , if duplication of the alpha gene occurred before duplication of the ancestral gene cluster , then a heretofore undiscovered subtype of alpha subunit should be located on human chromosome 15q11-q13 within an alpha 5-alpha x-beta 3-gamma 3 gene cluster at the locus for Angelman and Prader-Willi syndromes .
9039914: At concentrations relevant to clinical anaesthesia , these agents cause a dramatic stimulation of the chloride currents that are evoked by the binding of the natural ligand , GABA .
1849552: On Northern blots , the alpha 2 cDNA detects two mRNAs , which are found in cortex , hippocampus , and striatum , brain regions enriched in pharmacologically defined " BZ type II" receptors .
8388764: The locus order was further confirmed by DNA hybridization analysis of two patients , one with Angelman syndrome and one with Prader-Willi syndrome , with different unbalanced translocations and molecular extents of deletion .
8388764: Our results provide a framework map of chromosome 15q11-q13 into which additional markers can be oriented and allow a further differentiation of the critical genetic regions of the two syndromes .
2538761: This heterooligomeric receptor exists in most inhibitory synapses in the vertebrate central nervous system ( CNS ) and can be regulated by clinically important compounds such as benzodiazepines and barbiturates .
11003197: BACKGROUND : Behavioral genomics has made dramatic progress toward mapping quantitative trait loci ( QTLs ) that contain genes responsible for phenotypic differences in a variety of behavioral responses to alcohol ( ethanol ) .
11003197: We previously identified a QTL on mouse Chromosome 11 that affects genetic predisposition to acute alcohol withdrawal .
11003197: CONCLUSIONS : Functionally relevant variation in Gabrg2 , or a closely linked gene , is correlated genetically with some , but not all , behavioral responses to alcohol .
11003197: The alcohol-related phenotypes associated with Gabrg2 generally may be characterized as debilitating or motivationally negative .
11326274: We now report a K289M mutation in the GABA(A) receptor gamma2-subunit gene ( GABRG2 ) that segregates in a family with a phenotype closely related to GEFS + ( ref .
11326274: 8 ) , an autosomal dominant disorder associating febrile seizures and generalized epilepsy previously linked to mutations in sodium channel genes .
2561970: These findings have implications for the composition of two different GABAA receptor subtypes and for information processing in networks using GABA for signaling .
11326275: There is a recognized genetic relationship between FS and CAE , yet the two syndromes have different ages of onset , and the physiology of absences and convulsions is distinct .


HH1R_BOVIN_svm.dis:
12142541: Hrh1 - / - mice are protected from VAASH , which can be restored by genetic complementation with a susceptible Bphs / Hrh1 allele , and experimental allergic encephalomyelitis and autoimmune orchitis due to immune deviation .
12595443: In vivo intoxication with Bordetella pertussis toxin ( PTX ) elicits a variety of physiological responses including a marked leukocytosis , disruption of glucose regulation , adjuvant activity , alterations in vascular function , hypersensitivity to vasoactive agents , and death .
12595443: In this study Bphs congenic mice and mice with a disrupted Hrh1 gene were used to examine the role of Bphs / Hrh1 in the genetic control of susceptibility to a number of phenotypes elicited following in vivo intoxication .
12595443: We report that the contribution of Bphs / Hrh1 to the overall genetic control of responsiveness to PTX is restricted to susceptibility to histamine hypersensitivity and enhancement of antigen-specific delayed-type hypersensitivity responses .
12595443: Bphs / Hrh1 also did not significantly influence susceptibility to the lethal effects , the leukocytosis response , disruption of glucose regulation , and histamine-independent increases in vascular permeability associated with in vivo intoxication .
1722337: This investigation discloses the molecular nature of the H1 receptor--a receptor that mediates diverse neuronal and peripheral actions of histamine and that may be of therapeutic importance in allergy .
8812432: Interspecific backcross analysis indicated that the mouse histamine H1 receptor gene ( Hrh1 ) is located in the central region of mouse Chromosome 6 linked to microphthalmia ( Mitfmi ) , ras-related fibrosarcoma oncogene 1 ( Raf1 ) , and ret proto-oncogene ( Ret ) in a region of homology with human chromosome 3p .


HUGA_VESVU_svm.dis:
10998264: Ara h 1 and Ole e 1 , major allergens from peanut and olive pollen , respectively , contained mainly xylosylated N-glycans with the composition Man(3(-4))XylGlcNAc(2) in the case of Ara h 1 and GlcNAc(1-2)Man(3)XylGlcNAc(2) in the case of Ole e 1 where also some GlcNAc(0-2)Man(3)XylFucGlcNAc(2) was found .


KBF2_HUMAN_svm.dis:
11239468: Processing of the nf(kappa)b2 gene product p100 to generate p52 is an important step in NF-kappaB regulation .
11239468: Further , a natural mutation of the gene encoding NIK in alymphoplasia ( aly ) mice cripples the function of NIK in p100 processing , causing a severe defect in p52 production .
9529257: Our studies now demonstrate that p50 is generated by a unique cotranslational processing event involving the 26S proteasome , whereas cotranslational folding of sequences near the C terminus of p50 abrogates proteasome processing and leads to p105 production .
9950430: The p105 precursor also acts as an NFkappaB-inhibitory protein , retaining associated p50 , c-Rel and Rel-A proteins in the cytoplasm through its carboxy terminus .
1533881: However , in vitro association with p105 by v-Rel does not necessarily correlate with transformation , since one nontransforming v-Rel mutant can associate with p105 in vitro .
7969179: Here we report the characterization of two novel NF-kappa B1 precursor isoforms , p84NF-kappa B1 and p98NF-kappa B1 , that arise by alternate splicing within the C-terminal coding region of murine nfkb1 .
9384558: They share a structural motif known as the rel homology region ( RHR ) , the C-terminal one third of which mediates protein dimerization .
9384558: CONCLUSIONS : These two structures suggest that the rel / NFkappaB family of transcription factors use only a few conservative changes in their amino acid sequences to form a host of dimers with varying affinities for dimerization .
8825636: The NFKB1 gene encodes three proteins of the NF-kappa B / Rel and I kappa B families : p105 , p50 , and ( in mouse ) I kappa B-gamma .
7969113: The genomic structure and sequence of NF-kappa B2 revealed the presence of two promoters and at least four kappa B regulatory elements , which mediate responsiveness to phorbol myristate acetate and tumor necrosis factor alpha .
10469655: We propose a model that p105 is inducibly degraded , and that its degradation liberates sequestered NF-kappaB subunits , including its processing product p50 .
11297557: Tumor necrosis factor alpha ( TNFalpha ) and interleukin-1alpha ( IL-1alpha ) stimulate p105 degradation , releasing associated Rel subunits to translocate into the nucleus .


OTX2_BRARE_svm.dis:
7720578: Microinjection of Xotx2 mRNA in 1- , 2 - and 4-cell stage embryos causes the appearance of secondary cement glands and partial secondary axes in embryos with reduced trunk and tail structures .
7893604: To analyze the molecular mechanism of pattern formation in the anteriormost regions of the zebrafish embryo , we isolated two zebrafish sequences , zOtx1 and zOtx2 , related to the Drosophila orthodenticle ( otd ) and two murine Otx genes .
1353865: Three Drosophila genes have been identified that are important in controlling the development of the head , two of which , empty spiracles and orthodenticle , have been cloned and shown to contain a homeobox .
1353865: Thus at the time when regional specification of major brain regions takes place , the expression domains of the four genes seem to be continuous regions contained within each other in the sequence Emx1 less than Emx2 less than Otx1 less than Otx2 .


PENK_XENLA_svm.dis:
6547769: We report here the primary structures of the putative main exons of two proenkephalin genes in X. laevis , each of which codes for seven Met-enkephalin sequences but no Leu-enkephalin , indicating that Met-enkephalin preceded Leu-enkephalin in the evolution of the proenkephalin gene .
6547769: We also detect a polymorphism in one of the toad proenkephalin genes , mapping 1.5 kilobases ( kb ) 5 ' of the main exon ; it is caused by an insertion / deletion of a 1-kb repetitive sequence which has the characteristics of a transposable element .


PRO2_HUMAN_svm.dis:
10600384: These observations are important for the understanding of the functional and structural differences between these two classes of profilin isoforms .


RBS_TOBAC_svm.dis:
4000958: The tobacco gene is most closely related to the SS genes from the dicots soybean and pea , and less so to the monocots wheat and Lemna ; the deduced amino acid sequence of the mature protein is in all cases more closely conserved than is its chloroplast transit sequence .
3012537: In this study , the nucleotide sequences of two tomato ( Lycopersicon esculentum ) RBCS genes and a cDNA clone containing the entire coding region of a third tomato RBCS gene were determined .
3012537: Thus the tobacco gene seems to be phylogenetically as closely related to the tomato genes Rbcs-2A and Rbcs-3A as the latter two are to each other , and more closely related to them than Rbcs-1 is .


SEP7_HUMAN_svm.dis:
10731132: The fly Drosophila melanogaster is one of the most intensively studied organisms in biology and serves as a model system for the investigation of many developmental and cellular processes common to higher eukaryotes , including humans .
9520435: To examine this question , we characterized a saturation-mutagenized 67-kb region of the Drosophila genome by gene deletions , transgenic rescues , phenotypic dissections , genomic and cDNA sequencing , bio-informatic analysis , reverse transcription-PCR studies , and evolutionary comparisons .
9520435: Most gene expression is pleiotropic , and deletion studies reveal that a morphological phenotype is seldom observed when these genes are removed from the genome .
9520435: These data pinpoint some general bottlenecks in functional genomics , and they reveal the acute emerging difficulties with data transferability above the levels of genes and proteins , especially with complex human phenotypes .
9520435: We conclude that industrially scaled robogenomics in model organisms will have great impact if it can be realistically linked to epigenetic analyses of human variation and to phenotypic analyses of human diseases in different genetic backgrounds .
8152419: Their products are associated with the formation of a ring of neck filaments that forms at the region of the mother cell-bud junction during mitosis .
8152419: The latter is thought to be related to the pathogenesis and invasiveness of C. albicans .
10591208: The genomic sequence provides access to the complete structures of all genes , including those without known function , their control elements , and , by inference , the proteins they encode , as well as all other biologically important sequences .
11322766: We present the genomic localization and organization on chromosome 22q13.2 , a chromosomal hot spot for translocations implicated in leukemia .
11322766: Interestingly , MSF the closest paralog of septin 3 is a fusion partner in a therapy-related acute myeloid leukemia .
11859360: Fifty genes have significant similarity with human disease genes ; half of these are cancer related .
12747765: The ability of the immune system to recognize structurally altered , amplified or aberrantly expressed proteins can be used to identify molecules of etiologic relevance to cancer and to define targets for cancer immunotherapy .
12747765: In the current study , ninety-four distinct antigens reactive with serum IgG from breast cancer patients were identified by immunoscreening breast cancer-derived cDNA expression libraries ( SEREX ) .
12747765: A serological profile was generated for each antigen on the basis of reactivity with allogeneic sera from normal individuals and cancer patients , and mRNA expression profiles for coding sequences were assembled based upon the tissue distribution of expressed sequence tags , Northern blots and real-time RT-PCR .
12747765: Forty antigens reacted exclusively with sera from cancer patients .
12747765: These included well-characterized tumor antigens , e.g. MAGE-3 , MAGE-6 , NY-ESO-1 , Her2neu and p53 , as well as newly-defined breast cancer antigens , e.g. kinesin 2 , TATA element modulatory factor 1 , tumor protein D52 and MAGE D , and novel gene products , e.g. NY-BR-62 , NY-BR-75 , NY-BR-85 , and NY-BR-96 .
12747765: With regard to expression profiles , two of the novel gene products , NY-BR-62 and NY-BR-85 , were characterized by a high level of testicular mRNA expression , and were overexpressed in 60 % and 90 % of breast cancers , respectively .
12747765: In addition , mRNA encoding tumor protein D52 was overexpressed in 60 % of breast cancer specimens , while transcripts encoding SNT-1 signal adaptor protein were downregulated in 70 % of these cases .
12747765: This study adds to the growing list of breast cancer antigens defined by SEREX and to the ultimate objective of identifying the complete repertoire of immunogenic gene products in human cancer ( the cancer immunome ) .
12537569: BACKGROUND : A collection of sequenced full-length cDNAs is an important resource both for functional genomics studies and for the determination of the intron-exon structure of genes .
12537569: We have previously described the Drosophila Gene Collection ( DGC ) , a set of putative full-length cDNAs that was produced by generating and analyzing over 250,000 expressed sequence tags ( ESTs ) derived from a variety of tissues and developmental stages .
12537569: CONCLUSIONS : We show that comparison of cDNA sequences to a high-quality annotated genomic sequence is an effective approach to identifying and eliminating defective clones from a cDNA collection and ensure its utility for experimentation .
9889007: We assigned two human expressed sequence tags ( ESTs ) , WI-15444 and SGC32067 , homologous to mouse brain protein h5 , to the critical region for Meckel syndrome ( MKS ) on 17q22-q23 .
12537572: BACKGROUND : The recent completion of the Drosophila melanogaster genomic sequence to high quality and the availability of a greatly expanded set of Drosophila cDNA sequences , aligning to 78 % of the predicted euchromatic genes , afforded FlyBase the opportunity to significantly improve genomic annotations .
12537572: CONCLUSIONS : Identification of so many unusual gene models not only suggests that some mechanisms for gene regulation are more prevalent than previously believed , but also underscores the complex challenges of eukaryotic gene prediction .
9385360: The gene , which we call PNUTL1 , maps to the region of 22q11.2 frequently deleted in DiGeorge and velo-cardio-facial syndromes and is particularly highly expressed in the brain .
9385360: The mouse homologue , Pnutl1 , maps to MMU16 adding to the growing number of genes from the DiGeorge syndrome region that map to this chromosome .
11511094: These changes simultaneously provide the good candidate as a biomarker for monitoring cancer .
11511094: Interestingly , this brain-specific Bradeion gene is also expressed in two human cancers , colorectal cancer and malignant melanoma .


STRP_STREQ_svm.dis:
11296296: Consistent with the observation that S. pyogenes is responsible for a wider variety of human disease than any other bacterial species , more than 40 putative virulence-associated genes have been identified .
11296296: Additional genes have been identified that encode proteins likely associated with microbial " molecular mimicry" of host characteristics and involved in rheumatic fever or acute glomerulonephritis .
11296296: These prophage-associated genes encode at least six potential virulence factors , emphasizing the importance of bacteriophages in horizontal gene transfer and a possible mechanism for generating new strains with increased pathogenic potential .


TGR3_RAT_svm.dis:
7894484: Hereditary haemorrhagic telangiectasia ( HHT ) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent haemorrhage .
7894484: In the present study , endoglin , a transforming growth factor beta ( TGF-beta ) binding protein , was analysed as a candidate gene for the disorder based on chromosomal location , expression pattern and function .
7894484: We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex .
10545596: ENDOGLIN codes for a homodimeric membrane glycoprotein that interacts with receptors for members of the TGF-beta superfamily and is the gene mutated in the autosomal dominant vascular disorder hereditary hemorrhagic telangiectasia type 1 ( HHT1 ) .
9245986: To identify mutations that cause hereditary hemorrhagic telangiectasia ( HHT , or Rendu-Osler-Weber syndrome ) , clinical evaluations and genetic studies were performed on 32 families .
9245986: Five other mutations ( two donor splice-site mutations and three deletions ) produce altered mRNAs that are predicted to encode markedly truncated ENG proteins .
9245986: Mutations in other families are predicted to lie in ENG-regulatory regions or in one of the additional genes that may cause HHT .
9245986: Furthermore , because the clinical manifestation of disease in these eight families was similar , we hypothesize that phenotypic variation of HHT is not related to a particular ENG mutation .
10625079: Endoglin is the gene mutated in HHT1 , which is associated with a higher prevalence of pulmonary arteriovenous malformations than HHT2 , where ALK-1 is the mutated gene .
10625079: No mutant protein was expressed at the cell surface in any of these cases , and a transient intracellular species was seen in samples of only two families , supporting a haploinsufficiency model .
9157574: Hereditary hemorrhagic telangiectasia ( HHT ) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage .
9157574: Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34 ; subsequently , nine different mutations have been identified in the endoglin gene , which encodes a transforming growth factor beta ( TGF-beta ) binding protein , in nine unrelated families with HHT .
9157574: We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family .
9554745: Hereditary Hemorrhagic Telangiectasia ( HHT ) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions .
9554745: The type and location of most of the previously described mutations in the endoglin ( ENG ) gene suggested a dominant-negative model of receptor-complex dysfunction for the molecular basis of this disorder .
9554745: Two identical missense mutations in unrelated families disrupt the start codon of the gene .
9554745: These combined data suggest that the nature of most ENG mutations is to create a null ( nonfunctional ) allele , and that there is no requirement for the synthesis of a truncated endoglin protein in the pathogenesis of HHT .
7864874: Our previous study showed that porcine ZP1 , one of the major glycoproteins of porcine zona pellucida , was divided into two components ( porcine ZP4 and ZP2 ) , and suggested it was a homologue of mouse ZP2 .


VFUS_VACCC_svm.dis:
2795717: This showed that a 100 - to 115-kilobase ( kb ) centrally placed section is essentially colinear in organization in the two viruses and that a small region has translocated between the ends of one or other of the genomes during their divergence .
2219722: Whereas several similarities to proteins of known function were discerned , the function of the majority of proteins encoded by these open reading frames is as yet undetermined .
2033392: The orf virus sequence has a 31 % identity with the vaccinia virus protein , but a higher level of homology of core predicted residues .
2033392: The occurrence of the TAAAT sequence upstream from the initiation codon indicates that the sequence is likely to be transcribed late in infection .
1856205: Antiserum to the purified recombinant protein , expressed in bacteria , reacted specifically with a Mr 35,000 polypeptide that was detected starting 2 h after virus infection and that co-sedimented with RNA polymerase purified from virions .
2822962: The 14-kilodalton protein appears to play an important role in virus penetration at the level of cell fusion ; it also elicits neutralizing antibodies , and it forms covalently linked trimers on the surface of virions and in infected cells ( Rodriguez et al . ,
2389560: We provide genetic evidence for a role of the 14-kDa protein in cell fusion , since insertion of the 14-kDa encoding gene into the genome of nonfusogenic mutant viruses generates heterozygous viruses that now acquire acid pH-dependent fusion activity .
8384129: Analysis of variola virus nucleotide sequence revealed proteins belonging to several families which provide the virus with the possibility of overcoming the barriers of specific and non-specific host defence against viral infection .
8384129: The revealed differences between the genes ( proteins ) of variola and vaccinia viruses under study are discussed .


VGLG_IHNV_svm.dis:
3005478: Cloned viruses isolated from each of these ( VSV-P virus mutants ) carried mutations determining the VSV-P phenotype because they all allowed growth of virus-shedding tumours in nude mice when they were used to persistently infect normal ( unselected ) BHK-21 cells .
3005478: Treatment of nude mice with anti-asialo-GM1 allowed BHK cells persistently infected with wild-type VSV to form tumours , and BHK cells persistently infected with VSV-P were resistant to natural killer ( NK ) cells in vitro ; this implicates NK cells in the in vivo rejection of persistently infected tumours and in the selection of the VSV-P variant .
3005478: In this paper , we have sequenced the glycoprotein ( G protein ) , matrix ( M ) and non-structural ( NS ) proteins of three independently derived VSV-P type mutants to find mutations associated with in vivo passage of persistently infected nude mouse tumours and with resistance to NK cells .
2822842: Sigma virus , the hereditary agent of a CO2-induced paralysis of Drosophila , is classified as a rhabdovirus on a molecular basis .
2822842: We have purified its genome which after 32P-labelling was used as a probe to detect mRNAs in infected cells .
3033264: The nucleotide sequence of the mRNA encoding the glycoprotein of infectious hematopoietic necrosis virus was determined from a cDNA clone containing the entire coding region .
3033264: An amino acid identity of approximately 20 % was found between infectious hematopoietic necrosis virus and the two vesicular stomatitis virus serotypes and between infectious hematopoietic necrosis virus and rabies virus .
2168974: We report the entire glycoprotein ( G ) gene nucleotide sequences of 26 vesicular stomatitis virus Indiana serotype ( VSV IND ) type 1 isolates from North and Central America .
2168974: These sequences are also compared with partial G gene sequences of VSV IND type 2 ( Cocal ) and type 3 ( Alagoas ) viruses and the complete G gene sequences of the more distantly related VSV New Jersey ( NJ ) and Chandipura viruses .
2168974: Phylogenetic analysis of the G gene sequences by maximum parsimony revealed four major lineages or subtypes within the classical VSV IND ( type 1 ) viruses , each with a distinct geographic distribution .
2168974: A high degree of VSV genetic diversity was found in Central America , with several virus subtypes of both VSV IND and NJ serotypes existing in this mainly enzootic disease region .
2168974: Nineteen percent sequence variation but no deletions or insertions were evident within the 5 ' noncoding and the coding regions of the VSV IND type 1 G genes .
2168974: In addition to numerous base substitutions , the 3 ' noncoding regions of these viruses also contained numerous base insertions and deletions .
2168974: As the VSV IND type 1 subtypes have diverged from the common ancestor with the NJ subtypes , their G mRNAs have accumulated more 3 ' noncoding sequence inserts , ranging up to 303 nucleotides in length .
2168974: These primarily consist of an imprecise reiteration of the sequence UUUUUAA , apparently generated by a unique polymerase stuttering error .
2168974: Analysis of the deduced amino acid sequence differences among VSV IND type 1 viruses revealed numerous substitutions within defined antigenic epitopes , suggesting that immune selection may play a role in the evolution of these viruses .