Contributors: Qinglin Kang
... MCDS is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Genomic DNA was subjected to whole-exome sequencing and Sanger sequencing in all available family members. A spatial model of the type X collagen (α1) C-terminal noncollagenous (NC1) domain was further constructed. Based on these, we found that the phenotype of affected family members exhibited incomplete dominance. Mutation analysis indicated that there were two novel heterozygous missense mutations, [c.1765T>A (p.Phe589Ile)] and [c.1846A>G (p.Lys616Glu)] in the COL10A1 gene in family 1 and 2, respectively. The two novel substitution sites were highly conserved and the mutations were predicted to be deleterious by in silico analysis. Furthermore, protein modeling revealed that the two substitutions were located in the NC1 domain of collagen X (α1), which potentially impacted the trimerization of collagen X (α1) and combination with molecules in the pericellular matrix. We draw the conclusion that two novel mutations were identified in the present work, which will further expand the spectrum of the COL10A1 mutations associated with MCDS patients. In addition, our research revealed the phenomenon of incomplete dominance in MCDS.
Contributors: Ahmad Zidan, Eman Saad, Nasser Ibrahim, Amal Mahmoud, medhat hashem, Alaa Hemeida
... 1-Files that resulted from application of PHARMIP insilico method to explore adverse drug reactions on 2 examples of domperidone related cardio-toxicity and ranitidine related thrombocytopenia . 2-Files that are used to apply the step of molecular docking on the previous examples.
Contributors: Tetsuji Okada
... DSA files of human (N to Z, by gene name) : UniProt ID is used for a protein to which no gene name is assigned.
Top results from Data Repository sources. Show only results like these.
Contributors: Tetsuji Okada
... DSA files of human (A to M, by gene name) : UniProt ID is used for a protein to which no gene name is assigned.
Contributors: Tetsuji Okada
... DSA files of E. coli (A to M, by gene name) UniProt ID is used for a protein to which no gene name is assigned.
Contributors: Juan Gabriel Bayona
... the folder contains input and setup files of the article An Alternative Method to Determine Extreme Hydrodynamic Forces with Data Limitations for Offshore Engineering
Reshaping commensal gut microbiota in early life with amoxicillin presents with lower blood pressure
Contributors: Saroj Chakraborty
... Pediatric hypertension is recognized as an emerging global health concern. While new guidelines are developed for facilitating clinical management, the reasons for the prevalence of hypertension in children remain unknown. Genetics and environmental factors do not fully account for the growing incidence of pediatric hypertension. Because stable bacterial flora in early life are linked with health outcomes later in life, we hypothesized that reshaping of gut microbiota in early developmental stages of life affects blood pressure (BP) of pediatric subjects. To test this hypothesis, we administered amoxicillin, the most commonly prescribed pediatric antibiotic, to alter gut microbiota of young, genetically hypertensive rats (study 1) and dams during gestation and lactation to reshape microbiota of offspring (study 2). Reshaping of microbiota, with reductions in Firmicutes/Bacteriodetes ratio observed in Amoxicillin treated young rats and in dams. Amoxicillin treated rats also had lower blood pressure compared to the untreated rats. In the young rats treated with amoxicillin, the lowering effect on blood pressure persisted even after the antibiotics were discontinued. Similarly, the offspring from the dams treated with amoxicillin also showed lower systolic blood pressure compared to the control rats. Remarkably, in all cases, a decrease in BP was associated with lowering of Veillonellaceae, which are succinate-producing bacteria. Elevated plasma succinate is reported in hypertension. Accordingly, serum succinate was measured and found lower in animals treated with amoxicillin. Our results demonstrate a direct correlation between succinate-producing gut microbiota and early development of hypertension, and indicate that reshaping gut microbiota, especially by depleting succinate-producing microbiota early in life may have long-term benefits for hypertension-prone individuals.
Contributors: Zhen-zhen Zhang
... Primary giant cell tumor originating in the rib is rare, resembling giant cell tumor in the epiphyseal region of long tubular bones morphologically and immunologically. However, this lesion poses a great challenge for diagnosis due to uncommon clinical and radiological presentation and histological heterogeneity. Here we report two cases of huge giant cell tumor of ribs presented as soft tissue mass. The first patient presented as a large expanding soft tissue mass in the right thoracic cavity attached to the 4th and 5th ribs with bone destruction. The second patient showed an ill-defined soft tissue mass in the left retroperitoneum. The maximum diameter of the lesions are greater than 15cm. Apart from the typical lesion with giant cell tumor evenly distributed among the mononuclear cells, there are secondary change including multiple hemorrhage cyst formation, irregular ossification and spindle cell proliferation, which mimics malignancies. H3.3 p.G34W immunohistochemistry and H3F3A mutation detected by Sanger sequencing supported the diagnosis of giant cell tumor. Our studies emphasized radiological and histological polymorphism and the diagnostic value H3F3A mutation, with a review of other published reports to assess radiological and pathological diagnosis and outcomes in case of misdiagnosis and overtreatment.
Schistosoma mansoni infection is associated with quantitative and qualitative modifications of the mammalian intestinal microbiota
Contributors: Timothy Jenkins, Laura Peachey, Nadim Ajami, Andrew MacDonald, Michael Hsieh, Paul Brindley, Cinzia Cantacessi, Gabriel Rinaldi
... Raw 16S rRNA sequencing data from luminal contents from sections of the small (SI) and large intestines (LI) of 10 Swiss-Webster female mice (S+) that were infected with 200 S. mansoni cercariae and 10 age- and gender-matched mice that remained uninfected and were included as controls (S-). For each S+ and S- group, five mice were euthanised 28 days after infection (D28 p.i., i.e. before egg laying by sexually mature S. mansoni females had commenced). The remaining mice (n = 5 for each S+ and S-) were euthanised at day 50 p.i. (D50 p.i., corresponding with ongoing egg laying by sexually mature S. mansoni females). The experiment was carried out in duplicate and samples from both experiments (i.e. Exp. 1 & Exp. 2) pooled for further analysis. The data set includes four types of files: 1. Raw joined read files - 1 per sample (demultiplexed): e.g. Exp1_SI_S-_D50_1.fasta 2. Joined, quality filtered file containing reads from all samples and ready for OTU picking. The file was generated using Qiime: seqs.fna 3. Metadata file containing the relevant contextual information for each sample: Schisto_microbiome_Metadata.csv 4. OTU table created using Qiime including all of the taxonomic information: otu_table_mc2_w_tax_no_pynast_failures.biom
Data for: Identifying the mechanisms that shape fungal community and metacommunity patterns in Yunnan, China.
Contributors: Kingsly Chuo Beng, Richard Corlett
... Additional results and data