7 atypical fop phenotypes caused by novel mutations in the fop gene
Tài liệu Báo cáo khoa học: A genetic screen identifies mutations in the yeastWAR1 gene, linking transcription factor phosphorylation to weak-acid stress adaptation docx
Ngày tải lên :
19/02/2014, 00:20
... back-crossed with the wild-type several times to clean up the genetic background and determine whether the phenotype was caused by mutations in a single gene As tetrad analysis revealed a : cosegregation ... for site-directed mutagenesis reactions using the QuickChange Site-Directed Mutagenesis kit (Stratagene) Site-directed mutagenesis was carried out exactly as recom- mended by the manufacturer using ... into the strains (Table 1), and diploids were selected by double selection using appropriate auxotrophic markers UV mutagenesis For mutagenesis by UV irradiation, the strains YCS12Z-I or YAK3 were...
- 14
- 627
- 0
báo cáo khoa học: "Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene" potx
Ngày tải lên :
09/08/2014, 01:24
... A not previously described, novel germline mutation (p.E45V) in exon of MEN1 gene was detected in the postoperative genetic test for MEN1 MEN1 is a tumor suppressor gene located at chromosome ... called menin [24] Various types of mutations scattered throughout the 10 coding exons of the MEN1 gene inactivate the MEN1 gene Knudson’s two-hit model for tumorigenesis [10] addresses that the ... tissue and compromise a small number of bases The mutations are distributed across the MEN1 reading frame, resulting in a great deal of novel mutations, approximately 50%, in the index cases Mostly,...
- 7
- 412
- 0
Báo cáo y học: "A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report" ppt
Ngày tải lên :
11/08/2014, 17:21
... sequence of ADA gene spans 32kb on the long arm of chromosome 20 and contains 12 exons [5] More than 70 ADA mutations have been identified thus far The majority were missense mutations (63%), ... Most recurrent missense mutations arise from codons that contain the CpG dinucleotide This report describes the identification of a novel basesubstitution mutation in the ADA gene along with the ... reviewed by the Evidence Based Medicine and Research center of this institution After sequencing the entire ADA gene, we detected a single nucleotide substitution (c.847G>A) in exon of this gene...
- 5
- 342
- 0
Báo cáo y học: "Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemi" potx
Ngày tải lên :
08/08/2014, 16:23
... analysis [8] and peptide mapping [9] were performed This was followed by beta globin gene sequencing which was performed by ABI3730 96-capillary sequencer at the DNA Sequencing Core Facility ... mutation somewhere in the core (Figure 2) Beta globin gene sequencing revealed a novel mutation (GTG->TTG ) of codon 109 of exon of beta globin gene This mutation leads to a previously reported high ... however, this nucleotide change is novel and previously unreported; and it leads to a previously described amino acid substitution that was however, caused by a different nucleotide missense...
- 5
- 418
- 0
Báo cáo y học: "Spontaneous Hemoperitoneum Caused By a Diverticulum of the Sigmoid Colon"
Ngày tải lên :
25/10/2012, 10:51
... Int J Med Sci 2011, copy owing to incomplete bowel preparation The bleeding was controlled by #3-0 Vycryl intracorporeal suture, and the invagination of the diverticulum was performed laparoscopically ... using diverticulectomy We reported a case of colonic diverticulum that was successfully treated by laparoscopic suture and invagination of the diverticulum Our case highlights the occurrence of ... the localization of intraluminal pressure in the human colon, with special reference to the pathogenesis of colonic diverticula Gastroenterology 1968;54(Suppl):778-80 Lawson HH Haemoperitoneum...
- 3
- 531
- 0
Báo cáo "The dependence of the nonlinear absorption coefficient of strong electromagnetic waves caused by electrons confined in rectangular quantum wires on the temperature of the system" doc
Ngày tải lên :
22/03/2014, 11:20
... strong EMW by confined electrons in RQWs with infinite potential (Eq.9 and Eq.10), we see that the dependence of the nonlinear absorption coefficient of a strong electromagnetic wave by confined ... Ly ) and length Lz , embedded in GaAlAs The carriers (electron gas) are assumed to be confined by an infinite potential in the ( x, y ) plane and are free in the z direction in Cartesian coordinates ... order to establish analytical expressions for the nonlinear absorption coefficient of a strong EMW by confined electrons in RQW, we use the quantum kinetic equation for particle number + r r r operator...
- 6
- 414
- 2
Báo cáo khoa học: Regulation of the muscle-specific AMP-activated protein kinase a2b2c3 complexes by AMP and implications of the mutations in the c3-subunit for the AMP dependence of the enzyme docx
Ngày tải lên :
30/03/2014, 08:20
... site-directed mutagenesis kit (Stratagene, La Jolla, CA) Mutagenesis primers were designed using Stratagene’s Tm calculator (primer sequences are available on request) Point mutations generated in ... Above the alignment is the conservation score generated by the program The enlargement shows details of the mutations, with red borders indicating the mutations that have been described in vivo ... with AMP binding, as the mutations are predicted to lie around the mouth of the AMP-binding cleft [20,41] However, the mechanism by which the mutations lead to the observed phenotypes remains controversial...
- 10
- 553
- 0
STUDY ON EPIDEMIOLOGICAL FEATURES, APPLICATION OF DIAGNOSTIC KIT FOR DETECTION OF TRYPANOSOMIASIS CAUSED BY TRYPANOSOMA EVANSI IN CATTLE AND BUFFALOES IN A FEW NORTHERN MOUNTAINOUS PROVINCES AND RECOMMENDATION FOR PREVENTIVE AND TREATMENT MEASURES
Ngày tải lên :
28/04/2014, 13:08
... Observing internal organs by naked eyes or by using magnifier, taking pictures of sections in the body that manifested typical gross lesions + Testing blood indices by using auto hematology analyzer-Cellta ... on epidemiological features, application of diagnostic kit for detection of trypanosomiasis caused by Trypanosoma evansi in cattle and buffaloes in a few northern mountainous provinces and recommendation ... measures of trypanosomiasis in order to lower infection rates of trypanosomes and great losses caused by T evansi, contribute to improving the productivity in animal husbandry and promote development...
- 14
- 590
- 0
several epidemiological characteristics of acute encephalitis syndrome suspected to be caused by banna virus in some provinces of vietnam
Ngày tải lên :
25/07/2014, 11:36
... caused by JEV Cases with AES caused by Banna virus showed stiff neck syndrome at a high ratio of 77.45% while this ratio for AES caused by JEV is only 50.85% and for the group of AES caused by ECHO30 ... patients with AES caused by ECHO30 virus and JE virus Especially, bulging fontanel was noted primarily in patients with AES caused by Banna virus and rarely in patients with AES caused by ECHO30 virus ... AES caused by Banna virus, ECHO30 virus and JEV, there are 16 cases of death after treatment Mortality rate of AES caused by Banna virus is 14.6% (15/103), followed by mortality rate of AES caused...
- 24
- 296
- 0
Báo cáo sinh học: "Post-ERCP bacteremia caused by Alcaligenes xylosoxidans in a patient with pancreas cancer" pps
Ngày tải lên :
08/08/2014, 19:20
... Bacteremia caused by Achromobacter and Alcaligenes species in 46 patients with cancer (1989–2003) Cancer 2004, 101:2134-2140 Gradon JD, Mayrer AR, Hayes J: Pulmonary abscess associated with Alcaligenes ... to Alcaligenes xylosoxidans transmitted by chlorhexidine in a burns unit Eur J Clin Microbiol Infect Dis 1998, 17:724-726 Spear JB, Fuhrer J, Kirby BD: Achromobacter xylosoxidans (Alcaligenes xylosoxidans ... Pacemaker lead endocarditis caused by Achromobacter xylosoxidans J Korean Med Sci 2004, 19:291-293 Weissgold DJ, Kirkpatrick B, Iverson M: Acute postoperative Alcaligenes xylosoxidans endophthalmitis...
- 3
- 400
- 0
Báo cáo y học: "Surgical outcomes of the brachial plexus lesions caused by gunshot wounds in adults" pdf
Ngày tải lên :
10/08/2014, 10:20
... defects were caused by shrapnel injury which was secondary to landmine explosions Hemothorax and/or pneumothorax was detected in patients with brachial plexus lesions and treated by chest surgeons ... is not manageable by pharmacological means, because surgical repair have a low yield regarding ultimate functional recovery Studies regarding peripheral nerve injury caused by gunshot wounds ... peripheral nerve injury caused by gunshot wounds have shown that most lesions are caused by both direct bullet trauma and by the indirect heat and shock to adjacent tissue [7] These injuries present...
- 10
- 355
- 0
báo cáo khoa học: " Innegligible musculoskeletal disorders caused by zoledronic acid in adjuvant breast cancer treatment: a meta-analysis" pptx
Ngày tải lên :
10/08/2014, 10:21
... http://www.jeccr.com/content/30/1/72 were caused by ZOL [12] However, the adverse effects caused by ZOL itself should not be neglected Osteonecrosis of the jaw, an uncommon serious side effect caused by ZOL, has been ... musculoskeletal disorders risk of ZOL The between-study heterogeneity was tested with Q statistics (significant differences indicated by P < 0.10) [24] The fixed-effects model (the Mantel-Haenszel ... 0.193 for heterogeneity) (Figure 2) However, there was no significantly different risk of muscle pain between the two groups (RR: 1.198, 95% CI: 0.901-1.594, P = 0.366 for heterogeneity) Funnel...
- 7
- 255
- 0
báo cáo khoa học: "Lobar pneumonia caused by Ralstonia pickettii in a sixty-five-year-old Han Chinese man: a case report" doc
Ngày tải lên :
10/08/2014, 22:24
... colonization of patients in an obstetric ward caused by a contaminated irrigation system J Hosp Infect 2000, 46:79-80 Wills TS, Lopez J, Billington AR: Empyema Caused by Ralstonia pickettii in a Hemodialysis ... figure charges doi:10.1186/1752-1947-5-377 Cite this article as: Pan et al.: Lobar pneumonia caused by Ralstonia pickettii in a sixty-five-year-old Han Chinese man: a case report Journal of Medical ... were provided simultaneously (Table 1) In this case, the R pickettii isolate was susceptible to cefoperazone sodium-sulbactam sodium, ceftazidime, and imipenem according to the disk diffusion method...
- 4
- 399
- 0
báo cáo khoa học: " A nodulo-cystic eumycetoma caused by Pyrenochaeta romeroi in a renal transplant recipient: A case report" docx
Ngày tải lên :
10/08/2014, 23:20
... transplant recipient but the histopathological appearance of this lesion was closely similar to those caused by Exophiala jeanselmei or Phialophora richardsiae Microscopy showed dematiaceous hyphae with ... Chopra R, Najafzadeh MJ, Chhabra S, Meiss JF, De Hoog GS: Subcutaneous phaeohyphomycotic cyst caused by Pyrenochaeta romeroi Med Mycol 2010, 48:763-768 Girard C, Dereure O, Rispail P, Durand L, ... 60:842-846 Ahmed AOA, van Leeuwen V, Fahal A, van de Sande W, Verdrugh H, van Belkum A: Mycetoma caused by Madurella mycetomatis: a neglected infectious burden Lancet Infect Dis 2004, 4:566-574 Maiti...
- 3
- 276
- 0
báo cáo khoa học: "Severe sepsis caused by Aeromonas hydrophila in a patient using tocilizumab: a case report" pps
Ngày tải lên :
10/08/2014, 23:20
... to cefoperazone-sulbactam A hydrophila was resistant to penicillin, ampicillin, ampicillin-sulbactam, and first- and second-generation cephalosporins, and susceptible to piperacillin, third-generation ... which makes them resistant to ampicillin and first-generation cephalosporins The antimicrobial agents most active against Aeromonas are the third-generation cephalosporins, imipenem and fluoroquinolones ... feasible in elderly patients Page of Kuo-Chun L, Po-Tsung Y, Cheng L: Necrotizing fasciitis caused by inconspicuous infection of Aeromonas hydrophila in immunocompromised host JSCR 2010, 7:2...
- 3
- 387
- 0
Báo cáo y học: "Patent abdominal subcutaneous veins caused by congenital absence of the inferior vena cava: a case report" pptx
Ngày tải lên :
11/08/2014, 03:20
... months after both the first and second occurrence of thrombosis However, after thrombosis is caused by absence of IVC, there is a reportedly high risk of recurrent thrombosis [9] The combined ... for review by the Editor-in-Chief of this journal Author details Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, A-8036 Graz, Austria 2Practice for General Internal ... 2002, 136:37-41 Schneider JG, Eynatten MV, Duex M, Nawroth PP: Recurrent deep vein thrombosis caused by congenital interruption of the inferior vena cava and heterozygous factor V Leiden mutation...
- 4
- 391
- 0
Báo cáo y học: "Patent abdominal subcutaneous veins caused by congenital absence of the inferior vena cava: a case report" potx
Ngày tải lên :
11/08/2014, 06:23
... months after both the first and second occurrence of thrombosis However, after thrombosis is caused by absence of IVC, there is a reportedly high risk of recurrent thrombosis [9] The combined ... for review by the Editor-in-Chief of this journal Author details Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, A-8036 Graz, Austria 2Practice for General Internal ... 2002, 136:37-41 Schneider JG, Eynatten MV, Duex M, Nawroth PP: Recurrent deep vein thrombosis caused by congenital interruption of the inferior vena cava and heterozygous factor V Leiden mutation...
- 4
- 600
- 0
Báo cáo y học: " Liver and brain abscess caused by Aggregatibacter paraphrophilus in association with a large patent foramen ovale: a case report" pps
Ngày tải lên :
11/08/2014, 11:23
... was identified as Aggregatibacter paraphrophilus by polymerase chain reaction (PCR) amplification of the bacterial 16S ribosomal DNA followed by nucleotide sequencing, using published primers ... ovale was a contributory factor in the development of the multiple brain abscesses by permitting infected material to bypass the lungs and enter the systemic circulation The foramen ovale serves as ... doi:10.1186/1752-1947-4-69 Cite this article as: Ariyaratnam et al.: Liver and brain abscess caused by Aggregatibacter paraphrophilus in association with a large patent foramen ovale: a case report...
- 4
- 327
- 0
Báo cáo y học: " Neuropathy caused by B12 deficiency in a patient with ileal tuberculosis: A case report" doc
Ngày tải lên :
11/08/2014, 23:21
... elevation of the hemoglobin level and improvements in her general health Her upper-limb force became normal and she was able to eat by herself Her lower-limb force improved and the plantar reflex ... smear, further confirmed by a positive culture after 48 days After treatment with anti-tuberculosis drugs, her fever terminated, her hemoglobin level elevated and her general condition improved ... of 38.6°C Her growth and development were normal, reaching menarche at the age of 13, followed by regular cycles until two months before admission Her weight was 48 kg and her height was 154...
- 5
- 303
- 0
Báo cáo y học: " Infective endocarditis caused by Staphylococcus aureus in a patient with atopic dermatitis: a case report" potx
Ngày tải lên :
11/08/2014, 23:21
... be higher with this organism Preservation of the mitral valve is also rare when infection is caused by S aureus due to valvular damage and the presence of huge mobile vegetations [2] Page of (page ... 63% of the total flora, followed by S aureus, constituting 30% of the bacterial flora [3] There are several possible causes for the predominant colonization by S aureus One study suggested the ... patient was drowsy; temperature was 38°C, pulse rate 110/min and blood pressure 144/88 mm Hg He had a generalized erythematous macular nonblanching skin rash (Figure 1) and small purpuric haemorrhages...
- 3
- 326
- 0