Functional consequences of chromosomal rearrangements in neurodevelopmental disorder

... (SVs) of one patient In total, eight disrupted genes were identified in the breakpoint regions of six patients, Guanine nucleotide binding protein (G-protein), q (GNAQ), RNAbinding protein, fox1 ... development in their offspring.(28) In addition, prenatal infections such as rubella or even fever have been linked to an increased risk of developing neuropsychiatric disorders, inc...

Ngày tải lên: 09/09/2015, 11:21

... with the amino group and the N3 atom of the cytosine (Fig 1) This study uses site-directed mutagenesis to further explore the contribution of these amino acids interacting with the pyrimidine ring ... consisting of three domains, the CORE, the LID and the NMPbind [1] A characteristic of bacterial CMP kinases is an extension of the NMPbind domain by 40...

Ngày tải lên: 16/03/2014, 10:20

... Very recently, the functional consequences of the Y2 38X early stop codon polymorphism in DECTIN-1 have been studied in detail This polymorphism was demonstrated to result in a complete loss of ... assess whether dectin-1 and the DECTIN-1 Y2 38X polymorphism play a role in the pathogenesis or disease severity of RA In the present study, mRNA expression o...

Ngày tải lên: 12/08/2014, 11:23

... used for RT-PCR were: for the I7 OR (5¢-CGTCAAGGAGAAAAAACCCCGGATCT AAAAAATGGAGCGAAGGAACCACAG-3¢) and (5¢-AG CTGCCTGCAGGTCGACTCTAGAGGATCCTAACCAA TTTTGCTGCC-3¢); for OR17-40 (5¢-CGTCAAGGAG AAAAAACCCCGGATCTAAAAAATGGAGCAGAAAC ... recombination introducing the c-myc-OR17-40 coding sequence, using primers (5¢-CGTCAAGGAGAAAAAAC CCCGGATCTAAAAAATGGAGCAGAAACTCATCTC TGAAGAGGATCTG-3¢) and (5¢-G...

Ngày tải lên: 07/03/2014, 16:20

... AAATGAGCCCAACAAAGCCGAGAAAAACATT AATTTGATGCTCGACAGGCTGCCGCGGAGACATGG CAATCCGGGAGACAGCTGGTGATGAAAA TAGCCACACTTGCAGCCGCGGCCAAAAATG TTAATGGGGATGAGAGCGGTTGCCACTTTCT AGATGGGTTGGCAACTTTCGCTTCAAAA TGAAAACCGCCAGTGCTATTGCTGTGAACA ... TGAAAACCGCCAGTGCTATTGCTGTGAACA CCTGACAGCAACTACGCAGCGTTCTGTTCAG AGCAACTATCCACCGTTCGCTTCAGGGACTG TGCTTCATCTTGCTGACGTGTACGTGGGACT ATGTGTACGTGGGACTGGCACTTCGAAAGC AAAATGGCCTACA...

Ngày tải lên: 08/03/2014, 16:20

... and R52 participates in the binding of Tat to TAR and is involved in the nuclear localisation of Tat [18,19] The strong or total suppression of transactivation abilities observed in many of the ... selection of multiple nonsynonymous mutations in tat in a unique epidemiologically-linked cohort following transmission of HIV-1 Comparisons of the...

Ngày tải lên: 18/06/2014, 18:20

... and R52 participates in the binding of Tat to TAR and is involved in the nuclear localisation of Tat [18,19] The strong or total suppression of transactivation abilities observed in many of the ... selection of multiple nonsynonymous mutations in tat in a unique epidemiologically-linked cohort following transmission of HIV-1 Comparisons of the...

Ngày tải lên: 20/06/2014, 01:20

... CN138-134 Mania Mania Mania Mania Mania Depression Depression Maintenance Mania Overall side effects Anxiety Agitation Acathisia Constipation Headache Hyperprolactinaemia Insomnia Nausea Sedation ... control of agitation through sedation, but no data on psychotic symptoms are analysed Additionally, there is a concern regarding aripiprazole and olanzapine maintenance data because the...

Ngày tải lên: 08/08/2014, 23:21

... INTRODUCTION About hundred chromosomal fragile sites have been detected in humans since was made by Dekaban in 1965 (Sutherland, 1991) Human fragile sites have been successively related ... in tumoral chromosomal rearrangements in the mammary glands of dogs These features and some of the published results, indicate that the fragile sites may be distributed in the...

Ngày tải lên: 09/08/2014, 18:22

... characterized karyotypes, multiple karyotypes from the same individual, and karyotypes that were not randomly selected in the original report Tumor type and location were used to classify karyotypes into ... errors In this study we present the results of large-scale analysis of chromosomal aberrations from over 15,000 karyotypes of the Mitelman Database By exploit...

Ngày tải lên: 09/08/2014, 23:20

... Leader peptide domain 5'-CAACACUCGCAAUAUU-3'(sense) 3'-GUUGUGAGCGACGUUAUAA-5'(antisense) α3 domain 5'-AGGUCUUAUGGUGCUGUCAUU-3'(sense) 3'-UUUCCAGAAUACCACGACAGU5'(antisense) Transmembrane domain ... Qa-2 domains for 24 hrs, and the expression of Qa-2 was then determined by reverse transcriptase-PCR and FACS analysis Lanes 4, and (α3 domain, transmembrane domain, and cytoplasmic domain, re...

Ngày tải lên: 11/08/2014, 03:20

... pericentric inversion of chromosome in a boar, and (2) a mosaic with 15% of the cells bearing a 2/5 translocation in a bull Chromosome microdissection in cattle and pigs 687 MATERIALS AND METHODS ... cattle and pigs [31] [32] [33] [34] [35] [36] [37] [38] [39] [40] [41] [42] [43] 695 in pigs using dual-colorchromosome painting and PRINS, Chromosome Res (199...

Ngày tải lên: 14/08/2014, 13:22

... repression to induction) caused by chromosomal relaxation It is striking how many genes respond significantly to a loss of chromosomal supercoiling (7% of the total genes) The full list of SSGs, ... microarray In addition to changes due to a loss of topoisomerase activity, we saw changes in a set of non-overlapping genes between the norfloxacin and novobiocin e...

Ngày tải lên: 14/08/2014, 14:21

... 1.2 Intrinsic Protein Disorder in Protein- Protein Interactions Many proteins execute their biological functions through protein- protein interactions By binding to interacting partners, proteins ... 1: Introduction 1.1 Intrinsic Protein Disorder and Protein Functions .1 1.2 Intrinsic Protein Disorder in Protein- Protein Interactions 1.3 Characterization of Molecular Rec...

Ngày tải lên: 24/08/2014, 09:56