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1.
Paoyun Tang Julia E. M. Upton Michelle A. Barton-Forbes Marina I. Salvadori Meghan P. Clynick April K. Price Sharan L. Goobie 《Journal of clinical immunology》2018,38(1):88-95
The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells. Further genetic testing via a custom next-generation sequencing panel confirmed the presence of a homozygous mutation in PIK3R1, c.901 C>T, a premature stop codon at amino acid position 301. Given their many roles in immune regulation, recessive mutations in the PlK3R1 gene should be considered in infants presenting with hypogammaglobulinemia or agammaglobulinemia, particularly in the setting of parental consanguinity. 相似文献
2.
Bardia A Tiwari SK Gunisetty S Anjum F Nallari P Habeeb MA Khan AA 《Inflammation research》2012,61(4):359-365
Objective
The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC). 相似文献3.
Galba truncatula snails were experimentally infected with either of two different isolates of Fasciola gigantica, originating from Egypt or China, to determine the influence of these isolates on the characteristics of snail infections. The survival rates of G. truncatula on day 30 post-exposure were 90.0% and 60.2% in the Egyptian and Chinese groups, respectively. The frequency of cercaria-shedding snails within the Egyptian group was 79.8%, whereas in the Chinese group it was 22.4%. The parasite origin had a significant effect on the durations of the prepatent and patent periods. The mean number of cercariae shed from the Egyptian group was significantly greater than that shed from the Chinese group (a mean of 275.5 per cercaria-shedding snail compared with 29.0). These results could be explained by the fact that G. truncatula might be a natural intermediate host for F. gigantica in Egypt, and the greater adaptability of the Egyptian miracidia of F. gigantica to unusual snail hosts. These results demonstrate the influence of the geographic origin of the parasite on the success of trematodes infecting snails. 相似文献
4.
Karina?M.?Rebello Luzia?M.?C.?C?rtes Bernardo?A.?S.?Pereira Bernardo?M.?O.?Pascarelli Suzana?C?rte-Real Léa?C.?Finkelstein Rosa?T.?Pinho Claudia?M.?d’Avila-Levy Carlos?R.?Alves 《Parasitology research》2009,106(1):95-104
Leishmania (Viannia) braziliensis is the major causative agent of American tegumentary leishmaniasis, a disease that has a wide geographical distribution and
is a severe public health problem. The cysteine proteinase B (CPB) from Leishmania spp. represents an important virulence factor. In this study, we characterized and localized cysteine proteinases in L. (V.) braziliensis promastigotes. By a combination of triton X-114 extraction, concanavalin A-affinity, and ion exchange chromatographies, we
obtained an enriched fraction of hydrophobic proteins rich in mannose residues. This fraction contained two proteinases of
63 and 43 kDa, which were recognized by a CPB antiserum, and were partially sensitive to E-64 in enzymatic assays with the
peptide Glu-Phe-Leu. In confocal microscopy, the CPB homologues localized in the peripheral region of the parasite. This data
together with direct agglutination and flow cytometry assays suggest a surface localization of the CPB homologues. The incubation
of intact promastigotes with phospholipase C reduced the number of CPB-positive cells, while anti-cross-reacting determinant
and anti-CPB antisera recognized two polypeptides (63 and 43 kDa) derived from phospholipase C treatment, suggesting that
some CPB isoforms may be glycosylphosphatidylinositol-anchored. Collectively, our results suggest the presence of CPB homologues
in L. braziliensis surface and highlight the need for further studies on L. braziliensis cysteine proteinases, which require enrichment methods for enzymatic detection. 相似文献
5.
Asghar?Aghamohammadi Nima?Parvaneh Nima?Rezaei Kasra?Moazzami Sara?Kashef Hassan?Abolhassani Amir?Imanzadeh Javad?Mohammadi Lennart?Hammarstr?m 《Journal of clinical immunology》2009,29(6):769-776
Background
Hyper-immunoglobulin M (HIGM) syndromes are a heterogeneous group of primary immunodeficiency disorders, characterized by recurrent infections associated with decreased serum levels of immunoglobulin G (IgG) and IgA and normal to increased serum levels of IgM. These patients have immunoglobulin class switch recombination defects, caused by mutations in several genes. 相似文献6.
7.
Korpershoek E Verwest AM Ijzendoorn Y Rottier R Drexhage HA de Krijger RR 《Endocrine pathology》2007,18(1):31-36
Glutamic acid decarboxylase (GAD) is a major inhibitory neurotransmitter in the brain, which catalyses the reaction of l-glutamate to γ-aminobutyric acid. There are two isoforms of GAD, a 65-kDa form and a 67-kDa form, which are encoded by two different genes. As previous studies suggested a role for GAD67
splice variants during fetal pancreas development, we have investigated the mRNA expression of GAD67 and GAD67 splice variants in a series of 14 human fetal pancreases between 14 weeks gestation and term and in adult control pancreases
by RT-PCR. In this study, we demonstrate mRNA expression of GAD67 and four GAD67 splice variants, including GAD25, in human fetal and adult specimens. Some of the splice variants, including various proportions
of exon 7 or a new exon between exons 6 and 7, have not been described before in the human pancreas. We speculate that the
expression of these GAD67 splice variants might be related to human fetal pancreas development. 相似文献
8.
Bilen MF Pilloff MG Belaich MN Da Ros VG Rodrigues JC Ribeiro BM Romanowski V Lozano ME Ghiringhelli PD 《Virus genes》2007,35(3):549-562
We have located and cloned the Anticarsia gemmatalis multicapsid nucleopolyhedrovirus isolate 2D (AgMNPV-2D) genomic DNA fragment containing the immediate early 1 ORF and its flanking regions. Computer assisted analysis of the complete ie1 locus nucleotide sequence information was used to locate regulatory signals in the upstream region and conserved nucleotide and
amino acid sequences. Comparative studies led to the identification of several characteristic protein motifs and to the conclusion
that AgMNPV-2D is more closely related to Choristoneura fumiferana defective NPV than to other Group I nucleopolyhedrovirus. We have also shown that the AgMNPV IE1 protein was able to transactivate an early Autographa californica MNPV promoter and its own promoter in transient expression assays. In order to investigate the biological functionality of
the ie1 promoter, the ie1 upstream activating region (UAR) was molecularly dissected and cloned upstream of the E. coli
lacZ ORF. The results obtained, after transfection of UFL-AG-286 insect cells, leading us to find that the −492 and −357 versions
contains sequence motifs important for the level of the lacZ reporter gene expression.
Electronic supplementary material The online version of this article (doi: ) contains supplementary material, which is available to authorized users.
The GenBank accession number of the sequence reported in this paper is AF368905. 相似文献
9.
María del Rosario Robles James E. Loudon John M. Kinsella Mandala Hunter-Ishikawa David S. Miller Michelle L. Sauther Frank P. Cuozzo 《Acta parasitologica / Witold Stefański Institute of Parasitology, Warszawa, Poland》2010,55(3):270-275
Lemuricola (Madoxyuris) bauchoti Chabaud, Brygoo et Petter, 1965 is redescribed from material collected from the ring-tailed lemur, Lemur catta, from the Beza Mahafaly Special Reserve in Madagascar using the scanning electron microscope. This is a new host record and
the first oxyurid reported from the ring-tailed lemur. Previously, records of each species of the subgenus Madoxyuris have been restricted to a single host species, but the close relationship between these nematodes and their Strepsirrhini
hosts will only be proven when additional records fill in the gaps in their distribution. 相似文献
10.
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12.
Pseudomonas aeruginosa is an opportunistic pathogen of immunocompromised hosts. In cystic fibrosis (CF), P. aeruginosa causes acute and chronic lung infections that result in significant morbidity and mortality. P. aeruginosa possesses several traits that contribute to its ability to colonize and persist in acute and chronic infections. These include
high resistance to antimicrobials, ability to form biofilms, plethora of virulence products, and metabolic versatility. In
P. aeruginosa, a cell-to-cell communication process termed quorum sensing (QS) regulates many of these factors that contribute to its pathogenesis.
Recent evidence suggests that the CF lung environment presents a specialized niche for P. aeruginosa. The relationship of P. aeruginosa QS, biofilm formation, and the CF lung environment is discussed. 相似文献
13.
Emily Staples Beatriz Morillo-Gutierrez Jessica Davies Daniel Petersheim Michel Massaad Mary Slatter Dimitra Dimou Rainer Doffinger Scott Hackett Dinkantha Kumararatne James Hadfield Matthew D. Eldridge Raif S. Geha Mario Abinun James E. D. Thaventhiran 《Journal of clinical immunology》2017,37(5):415-418
14.
Background
Human cytochrome P450 3A enzymes, particularly CYP3A4 and CYP3A5, play an important role in drug metabolism. CYP3A expression exhibits substantial interindividual variation, much of which may result from genetic variation. This study describes Pyrosequencing assays for key SNPs in CYP3A4 (CYP3A4*1B, CYP3A4*2, and CYP3A4*3) and CYP3A5 (CYP3A5*3C and CYP3A5*6). 相似文献15.
Repeat induced point mutation (RIP) is a gene silencing mechanism present in fungal genomes. During RIP, duplicated sequences
are efficiently and irreversibly mutated by transitions from C:G to T:A. For the first time, we have identified traces of
RIP in transposable elements of Aspergillus niger and Penicillium chrysogenum, two biotechnologically relevant fungi. We found that RIP in P. chrysogenum has affected a large set of sequences, which also contain other mutations. On the other hand, RIP in A. niger is limited to only few sequences, but literally all mutations are RIP-like. Surprisingly, RIP occurred only in transposon
sequences that have disrupted open reading frames in A. niger, a phenomenon not yet reported for other fungi. In both fungal species, we identified two sequences with strong sequence
similarity to Neurospora crassa RID. RID is a putative DNA methyltransferase and the only known enzyme involved in the RIP process. Our findings suggest
that both A. niger and P. chrysogenum either had a sexual past or have a sexual potential. These findings have important implications for future strain development
of these fungi. 相似文献
16.
Passero LF Carvalho AK Bordon ML Bonfim-Melo A Toyama MH Corbett CE Laurenti MD 《Inflammation research》2012,61(3):255-263
Objective
Leishmania (Viannia) shawi was characterized only recently, and few studies concerning the immunogenic and protective properties of its antigens have been performed. The present study aimed to evaluate the protective potential of the five antigenic fractions isolated from L. (V.) shawi promastigotes in experimental cutaneous leishmaniasis. 相似文献17.
Naoki Oishi Tetsuo Kondo Tadao Nakazawa Kunio Mochizuki Tomohiro Inoue Kazunari Kasai Ippei Tahara Tomonori Yabuta Mitsuyoshi Hirokawa Akira Miyauchi Ryohei Katoh 《Endocrine pathology》2017,28(2):103-111
Pediatric papillary thyroid carcinoma (PTC) has unique features but requires further genetic investigation. Moreover, there has been increasing concern about the risk for pediatric PTC in Japan after the Fukushima accident. This study aims to evaluate the frequencies of BRAF and TERT promoter mutations and to examine their significance in non-radiation-associated pediatric PTCs in Japan. We enrolled 81 pediatric PTC patients aged ≤20 years. The control group included 91 adult PTCs from patients >20 years old. BRAF and TERT mutations were analyzed by allele-specific-PCR and/or Sanger sequencing. Compared with adult PTCs, pediatric PTCs exhibited larger tumor size, more frequent lymph node metastasis, and less classical histology. The prevalence of BRAF V600E in pediatric PTCs was 54% and significantly lower than that in adults of 85%. In the pediatric PTCs, BRAF V600E was positively associated with older age, classical histology, and the lymph node metastasis but independent from other clinicopathological factors. TERT mutations were identified in 13% of adults and in none of the pediatric PTCs. In conclusion, pediatric PTCs are characterized by more advanced clinicopathological features, lower BRAF V600E frequency, and absence of TERT mutation. The BRAF V600E frequency in this study is similar to the reported BRAF V600E frequency in the ultrasonographically screened pediatric PTCs in Fukushima. 相似文献
18.
Silva-Lopez RE Morgado-Díaz JA Alves CR Côrte-Real S Giovanni-De-Simone S 《Parasitology research》2004,93(4):328-331
Extracellular proteolytic activity was detected in a Leishmania (L.) amazonensis culture supernatant and a 56-kDa protein was purified using (NH4)2SO4 precipitation followed by affinity chromatography on aprotinin–agarose. A rabbit serum obtained against the 56-kDa extracellular serine protease was used in order to analyze its location in L. (L.) amazonensis parasites. Immunocytochemistry studies revealed that the enzyme is mainly found in the flagellar pocket and cytoplasmic vesicles of promastigote forms, whereas in amastigotes, it is located in electron-dense structures resembling megasomes. These results indicate that the 56-kDa serine protease is released into the extracellular environment through the flagellar pocket; and its intracellular location suggests either a correlated enzymatic activity or intracellular trafficking. 相似文献
19.
Fidelis Cho-Ngwa Melanie Abongwa Moses N Ngemenya Kennedy D Nyongbela 《BMC complementary and alternative medicine》2010,10(1):62
Background
The current treatment of onchocerciasis relies on the use of ivermectin which is only microfilaricidal and for which resistant parasite strains of veterinary importance are increasingly being detected. In the search for novel filaricides and alternative medicines, we investigated the selective activity of crude extracts of Margaritaria discoidea and Homalium africanum on Onchocerca ochengi, a model parasite for O. volvulus. These plants are used to treat the disease in North West Cameroon. 相似文献20.
Svetlana A. Romanenko Natalya A. Lemskaya Vladimir A. Trifonov Natalya A. Serdyukova Patricia C.M. O’Brien Nina Sh. Bulatova Feodor N. Golenishchev Malcolm A. Ferguson-Smith Fengtang Yang Alexander S. Graphodatsky 《Chromosome research》2016,24(2):145-159
The subfamily Arvicolinae consists of a great number of species with highly diversified karyotypes. In spite of the wide use of arvicolines in biological and medicine studies, the data on their karyotype structures are limited. Here, we made a set of painting probes from flow-sorted chromosomes of a male Palearctic collared lemming (Dicrostonyx torquatus, DTO). Together with the sets of painting probes made previously from the field vole (Microtus agrestis, MAG) and golden hamster (Mesocricetus auratus, MAU), we carried out a reciprocal chromosome painting between these three species. The three sets of probes were further hybridized onto the chromosomes of the Eurasian water vole (Arvicola amphibius) and northern red-backed vole (Myodes rutilus). We defined the diploid chromosome number in D. torquatus karyotype as 2n?=?45?+?Bs and showed that the system of sex chromosomes is X1X2Y1. The probes developed here provide a genomic tool-kit, which will help to investigate the evolutionary biology of the Arvicolinae rodents. Our results show that the syntenic association MAG1/17 is present not only in Arvicolinae but also in some species of Cricetinae; and thus, should not be considered as a cytogenetic signature for Arvicolinae. Although cytogenetic signature markers for the genera have not yet been found, our data provides insight into the likely ancestral karyotype of Arvicolinae. We conclude that the karyotypes of modern voles could have evolved from a common ancestral arvicoline karyotype (AAK) with 2n?=?56 mainly by centric fusions and fissions. 相似文献