Abstract: Abstract Background The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls. Results Copy number correlated with gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially expressed in 15q duplication neurons were downregulated compared to controls including several transcription factors, while in AS differential expression was restricted primarily to the 15q region. Here, we show significant downregulation of the transcription factors FOXO1 and HAND2 in neurons from 15q ...
Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V Mullegama et al. The European Journal of Human Genetics (2013), 1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the same gene involved in the 2q23.1 deletion syndrome.…
The first hints of the complex organization of the maize genome came from cytological studies. Although maize is diploid, early studies by McClintock (3, 4) demonstrated the association of nonhomologous chromosomes during meiosis. Later studies documented the formation of bivalents and multivalents in maize haploids (5, 6). Altogether, cytological observations suggested that the maize genome contains extensive regions of homology, probably reflecting chromosomal duplications.. Evidence for chromosomal duplication also came from linkage information. In 1951, Rhoades (7, 8) noted that some regions of linkage maps did not contain mutants, and he proposed that the lack of mutants reflected genetic redundancy caused by chromosomal duplication. Rhoades proposal has since been supported by molecular data. For example, isozyme studies have documented the presence of duplicated, linked loci in maize (9-12), and restriction fragment length polymorphism mapping studies have shown that many markers map to ...
TY - JOUR. T1 - A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. AU - Zahir, Farah R.. AU - Langlois, Sylvie. AU - Gall, Kim. AU - Eydoux, Patrice. AU - Marra, Marco A.. AU - Friedman, Jan M.. PY - 2009/6. Y1 - 2009/6. N2 - We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies associated with a previously unreported de novo duplication of chromosome 17q21.33. The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip® array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype.. AB - We report on a 14-year-old girl with mild cognitive impairment, deafness, and an unusual pattern of anomalies ...
Chromosome 5q duplication syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Failure to Diagnose Chromosome 12q duplication syndrome including overlooked symptoms and complications for under-diagnosed medical conditions.
In the last years pioneer studies have presented first analysis methods for genome data in a disease context. Several data quality control and statistical methods are now well established and more and more data is available for application. This weeks studies point out the importance of thinking outside the box as well as data dissecting from a different perspective.. Ohnologs and CNVs. Is a specific class of genes overrepresented in large recurrent pathogenic CNVs? Using an evolutionary genetic approach, McLysaght and colleagues demonstrate that ohnologs are overrepresented in pathogenic CNVs in their recent PNAS study. Ohnologs are genes retained after ancestral whole-genome duplication events. McLysaght and colleagues suggest that ohnologs represent critical dosage-sensitive elements of the genome and are possibly responsible for some of the deleterious phenotypes observed for pathogenic CNVs. In the field of epilepsy genetics, we usually identify a huge amount of truncating mutations in an ...
Synaptic dysfunction in amygdala in intellectual disorder models. Prog Neuropsychopharmacol Biol Psychiatry 2017, 10.1016/j.pnpbp.2017.07.028.. **************************************************************************************************. Penn, A C, Zhang, C L, Georges, F, Royer, L, Breillat, C, Hosy, E, Petersen, J D, Humeau, Y and Choquet, D (2017) Hippocampal LTP and contextual learning require surface diffusion of AMPA receptors. Nature 2017, 10.1038/nature23658.. **************************************************************************************************. Arbogast T, Iacono G, Chevalier C, Afinowi N, Houbaert X, van Eede M, Laliberté C, Birling MC, Selloum M, Linda K, Meziane H, Sorg T, Nadif Kasri N, Koolen D, Stunnenberg H, Henkelman M, Kopanitsa M, Humeau Y, de Vries B, Herault Y (2017). Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition, synaptic transmission and neurogenesis. PLoS Genetics 2017, ...
Complete information for DUP22Q11.2 gene (Uncategorized), Chromosome 22q11.2 Microduplication Syndrome, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
In many organisms descended from polyploid ancestors (shown in the figure below), ohnologs are associated with unique evolutionary innovations. For example, ohnologs are known to be associated with signaling pathways and developmental genes in vertebrates and most likely facilitated increased genomic, morphological and developmental complexity of vertebrates. In addition, ohnologs have been shown to present an enhanced susceptibility to deleterious mutations and are frequently associated with cancer and other genetic diseases. Therefore, these evolutionary observations also hold predictive power to identify and prioritize disease gene candidates and driver mutations in the NGS studies to sequence cancer genomes.. ...
Microdeletions and microduplications in the genome are caused by chromosome misalignment between blocks of region‐specific low copy repeats and result in genomic disorders
Translocated chromosomal duplications occur spontaneously in many organisms; segmental duplications of large chromosomal regions are expected to result in phenotypic changes because of gene dosage effects. Therefore, experimentally generated segmental duplications in targeted chromosomal regions can be used to study phenotypic changes and determine the functions of unknown genes in these regions. Previously, we performed tandem duplication of a targeted chromosomal segment in Aspergillus oryzae. However, in tandem chromosomal duplication, duplication of chromosomal ends and multiple chromosomal duplication are difficult. In this study, we aimed to generate fungal strains with a translocated duplication or triplication of a targeted chromosomal region via break-induced replication. Double-strand breaks were introduced into chromosomes of parental strains by treating protoplast cells with I-SceI meganuclease. Subsequently, strains were generated by nonreciprocal translocation of a 1.4-Mb duplicated region
Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19
Abnormalities in chromosomal copy number (or "aneuploidies") often lead to cancer (Davoli et al. 2013; Potapova et al. 2013; Sheltzer 2013; Durrbaum and Storchova 2015, 2016; Laubert et al. 2015; Mohr et al. 2015; Nicholson and Cimini 2015; Pinto et al. 2015; Santaguida and Amon 2015), developmental defects (Ottesen et al. 2010; Gannon et al. 2011; Siegel and Amon 2012; Akasaka et al. 2013; Bose et al. 2015), premature aging (Andriani et al. 2016; Sunshine et al. 2016), and other health issues in humans. In the budding yeast Saccharomyces cerevisiae, aneuploidies also tend to be deleterious (Torres et al. 2007; Yona et al. 2012; Potapova et al. 2013; Dodgson et al. 2016; Sunshine et al. 2016). However, in some cases, these aneuploidies are conditionally beneficial, as they can enable yeast to tolerate specific loss-of-function mutations or environmental stresses (Selmecki et al. 2009, 2015; Pavelka et al. 2010; Chen et al. 2012a,b; Yona et al. 2012; Tan et al. 2013; Kaya et al. 2015; Liu et al. ...
TY - JOUR. T1 - 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features. AU - Izzo, A.. AU - Genesio, R.. AU - Ronga, V.. AU - Nocera, V.. AU - Marullo, L.. AU - Cicatiello, R.. AU - Sglavo, G.. AU - Paladini, D.. AU - Conti, A.. AU - Nitsch, L.. PY - 2012/2. Y1 - 2012/2. N2 - Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. Foetal ultrasonographic examination at 22 weeks of gestation showed short femur, clubfeet, pielectasy, and facial dysmorphisms. Chromosome investigations revealed an inverted duplication of the short arm of chromosome 5 from 5p13.1 to 5p15.33 and a 800 kb deletion at 5pter. The absence of severe anomalies such as cardiac and cerebral defects, observed so far in all ...
Although radiation-induced chromosome exchanges are not distributed among cells according to a Poisson distribution, chromatid interchanges are. In Vicia faba the lack of fit to a Poisson distribution has been attributed to the occurrence of only two sites per cell where the chromosomes are close enough to form exchanges if broken. When chromatid aberrations are induced, after chromosomal duplication, the number of sites more than doubles. ...
A paediatric microarray is specifically looking for CNVs that affect health. A microarray is an appropriate test for the investigation of genetic causes of intellectual disability, developmental and behavioural conditions such as autism spectrum disorders, congenital malformations and for some familial genetic conditions. A microarray detects the likely cause of developmental problems in about 15% of referrals.. A microarray replaces most tests looking at microdeletion and microduplication syndromes (eg Di-George syndrome), but does not replace all other genetic investigations. Tests with complex genetics, like fragile X syndrome, need to be requested and performed separately. For specific information on microarray testing, please contact the laboratory.. Parental microarray testing is often required and may be used to help determine the significance of some CNVs, where the clinical significance is yet to be fully determined.. ...
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International Journal of Genomics is a peer-reviewed, Open Access journal that publishes research articles as well as review articles in all areas of genome-scale analysis. Topics covered by the journal include, but are not limited to: bioinformatics, clinical genomics, disease genomics, epigenomics, evolutionary genomics, functional genomics, genome engineering, and synthetic genomics.
Detection of FMR1 triplet expansion with fragment analysis in premature ovarian failure patient.. Genetic investigation in the disorders of sexual differentiation: Mutation analysis of the SRY, desert hedgehog (DHH), androgen receptor (AR), 5α-reductase (SRD5A2) and WT1 genes in children with genital abnormalities.. 2. DNA microarray is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders or multiple congenital anomalies. Microarray analysis can identify candidate regions and genes in patients with unexplained mental retardations and developmental delays and discover novel microdeletion and microduplication syndromes. In cases with structural chromosome aberrations the identification of precise breakpoints and involved genes using microarray will allow the better understanding of pathogenesis and study of genotype-phenotype correlation.. 3. Bone disorders: craniosynostosis, achondro- and ...
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage. Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes.The chance of this happening is a function of the degree of sharing of repetitive elements between two chromosomes. The products of this recombination are a duplication at the site of the exchange and a reciprocal deletion. Ectopic recombination is typically mediated by sequence similarity at the duplicate ...
Marianne is an Instructional Designer working in Downtown Detroit. Shes been an active volunteer in the community primarily focusing on efforts with Make A Wish Michigan. In April 2017 she had her first child, Olivia. Olivia was born with three continental heart defects: Atrial Septal Defect, Coarctation of the Aorta, and a Bicuspid Valve. In addition to her defects, she was also born with a Chromosomal Duplication and Hypothyroidism. She had her first heart surgery at four days old to repair two of the defects at Motts Childrens Hospital in Ann Arbor. After working so closely with children battling critical illnesses for years and then having a child of her own with a range of medical needs, she knew she wanted to provide more support specifically to The Childrens Heart Foundations community. She has a goal to write and illustrate a series of childrens books on children with Congenital Heart Defects. ...
XLAG is a novel genetic cause of GH excess. It usually presents at a very early age as a sporadic disease due to a de novo microduplication on the X chromosome involving the GPR101 gene in patients with gigantism (40-42). The majority of the cases are females with germline microduplication (14, 40, 42). Two familial cases have been described with transmission from affected mother to an affected son and show full penetrance (14). Somatic mosaic mutation cases have also been described in males where the mutation was identified in the pituitary tissue and/or at low level in germline (18, 41, 42). Although the originally identified Xq26.3 duplicated area involves four genes (14), only one of these, the GPR101 gene, has been found upregulated at the mRNA level in pituitary tissue. We have recently identified a patient with XLAG whose duplicated area includes only the GPR101 gene, but not the other three genes, indicating the pathogenic role of GPR101 (14, 42). Activation of GPR101, an orphan Gs ...
As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.. ...
Xp 22.31 Duplication - Hi. I am looking for any information, stories, or support for genetic issues/duplications. I just found out that I have...
Background Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder. Methodology/Principal Findings We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen
PURPOSE: Mutations in murine and human versions of an ancestrally related gene usually result in similar phenotypes. However, interspecies differences exist, and in the case of two forkhead transcription factor genes (FOXC1 and FOXC2), these differences include corneal or anterior segment phenotypes, respectively. This study was undertaken to determine whether such discrepancies provide an opportunity for identifying novel human-murine ocular phenotypes. METHODS: Four pedigrees with early-onset glaucoma phenotypes secondary to segmental chromosomal duplications or deletions encompassing FOXC1 and 18 individuals from 9 FOXC2 mutation pedigrees underwent detailed ocular phenotyping. Subsequently, mice with mutations in Foxc1 or a related forkhead gene, Foxe3, were assessed for features of the human phenotypes. RESULTS: A significant increase in central corneal thickness was present in affected individuals from the segmental duplication pedigrees compared with their unaffected relatives (mean
GABAergic. Lets start out with a provocative statement. There is a single gene that may explain more cases of Lennox-Gastaut Syndrome (LGS) and Infantile Spasms (IS) than you would expect, rivalling SCN1A for the most common gene found in this group of patients. Its a gene that you are probably aware of but that you may think to be a very rare finding. In a recent publication in Annals of Neurology, the Epi4K consortium published their recent analysis of copy number variations that were derived from exome data. Combining de novo mutations and copy number variations points to GABRB3 as a major player in LGS and IS, explaining probably more than 2% of patients. Lets find out about the twilight zone, strategies to obtain structural variants from exomes, and the re-emergence of the 15q duplication syndrome. Continue reading →. ...
Article 1 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Sureni V Mullegama et al. The European Journal of Human Genetics (2013), 1-7 This article describes a new chromosome duplication syndrome, 2q23.1 duplication. This duplication includes the MBD5 gene, the same gene involved in the 2q23.1 deletion syndrome.…
Breakpoint characterization by 44K oligonucleotide array-CGH. a: 7.1 Mb deletion at 8p [arr 8p23.3p23.1(191,530-7,303,237)x1] and b: 30 Mb duplication at 15q
Microduplication of the region 7q11.23 critical for Williams-Beuren syndrome - diagnostic problems presented on the base of the case of an eleven-month-old girl ...
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There are at least 16 genes within the common overlapping region. A few of these genes are expressed in the central nervous system and/or likely to be dosage sensitive, or reported to be associated with disease by animal studies. These genes could be candidate genes for patients with deletion or duplication in this region.. The transcription factor gene (SP1) is most likely to be dosage sensitive (haploinsufficiency score: 0.81%) [DECIPHER]. The protein encoded by the SP1 gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters and is then involved in a variety of cellular processes such as cell growth, apoptosis, differentiation and immune responses, DNA damage response, and chromatin remodeling (provided by RefSeq, Nov 2014). The SP7 gene (haploinsufficiency score: 14.4%) encodes a bone specific transcription factor (osterix) which regulates osteogenesis and bone formation during embryonic development [8]. Niger et al. [9] reported that the activity of osterix ...
As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.. ...
3. There are genetic and epigenetic factors that can trigger autism. Shank mutations are responsible for idiopathic autism spectrum disorders (ASD) both in humans and in mice. This confirms an earlier study from 2006 in France where Shank 3 gene mutations were found in human autism cases. Recently research from Stanford University identified another genetic mutation, namely neuroligin-3 amino acid substitution and a neuroligin-3 deletion, which can be responsible for autism in mice. Epigenetic switches play an important role in the placenta, which according to research from the University of British Columbia, Vancouver/BC is likely the key for understanding autism. Another publication also stresses the importance of epigenetic switches in the development of autism. Stress during pregnancy can lead to changes in placental biochemical pathways, which causes prenatal epigenetic programming in the direction of autism. More research will be done regarding genetic causes of autism. However, it appears ...
Results Large duplications involving one complete domain or both domains are associated with either SRS or BWS, depending on the parental origin of the duplication. Genotype-phenotype correlation studies of partial duplications within the telomeric domain demonstrate the prominent role of IGF2, rather than H19, in the control of growth. Furthermore, it highlights the role of CDKN1C within the centromeric domain and suggests that the expected overexpression of KCNQ1OT1 from the paternal allele (in partial paternal duplications, excluding CDKN1C) does not affect the expression of CDKN1C. ...
We present a global comparison of differences in content of segmental duplication between human and chimpanzee, and determine that 33% of human duplications (| 94% sequence identity) are not duplicated in chimpanzee, including some human disease-causing duplications. Combining experimental and co …
Background: Dysfunctions in the PI3K/mTOR pathway have gained a lot of attention in autism research. This was initially based on the discovery of several monogenic autism spectrum disorders with mutations or defects in PI3K/mTOR signaling components. Recent genetic studies corroborate that defective PI3K/mTOR signaling might be a shared pathomechanism in autism disorders of so far unknown etiology, but functional molecular analyses in human cells are rare. The goals of this study were to perform a functional screen of cell lines from patients with idiopathic autism for defects in PI3K/mTOR signaling, to test if further functional analyses are suitable to detect underlying molecular mechanisms, and to evaluate this approach as a biomarker tool to identify therapeutic targets. Methods: We performed phospho-S6- and S6-specific ELISA experiments on 21 lymphoblastoid cell lines from the AGRE collection and on 37 lymphoblastoid cell lines from the Simons Simplex Collection and their healthy siblings. ...
A few years ago, researchers reported that the Fragile X Mental Retardation (FMRP) pathway helps to regulate expression or activity of 93 genes linked with idiopathic autism [1, 2]. FMRP, within a complex of CYFIP1 and EIF4E, negatively regulates a wide range of protein translation. Interestingly, the Eukaryotic Initiation Factors (EIF) are a family of…
Dr. Pallav Dube is a Pediatrician in Charlimli, Bhopal. Book Appointment, Consult Online, View Doctor Fees, Contact Number, User Reviews and Ratings for Dr. Pallav Dube | Lybrate
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Publisher: University of Delaware. Date Issued: 2011. Abstract: Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of the leukodystrophies, a group of disorders that affect growth of the myelin sheath. It is caused by mutations of the proteolipid protein 1 gene (Plp1), which is located on the X chromosome and encodes the most abundant protein of myelin. About 50-75% of PMD cases are due to duplications of a region of the X chromosome that includes the entire Plp1 gene. The duplications are typically in a head-to-tail arrangement and they vary in size and gene content. Although rodent models have been developed, these models have Plp1 gene copies that range from two to fourteen, and none contain an actual genomic rearrangement that resemble those found in PMD patients. The mouse chromosome engineering resources (MICER) were used to generate the ...
Numerous disorders associated with birth defects or developmental problems are believed to be caused by copy number variants (the deletion or duplication of genomic material). Cytogenetic testing may be requested in order to identify genetic imbalances in infants or children with characteristics of developmental delay (DD), autism spectrum disorder (ASD) or intellectual disability (ID). Historically, fluorescence in situ hybridization (FISH) and G-banded karyotyping were the primary tests used to identify genetic imbalances in infants or children believed to have DD, ASD or ID. FISH utilizes short DNA probe sequences that are labeled with a fluorescent dye that glows (fluoresces) under UV light. These labeled DNA probes bind only to specific regions within the genome and can identify small chromosomal duplications or deletions. G-banded karyotyping uses Giemsa stain to identify chromosomal aberrations such as translocations and rearrangements. aCGH is a more recently developed cytogenetic ...
Study results are preliminary, but they offer proof of concept that the method can link certain behavior, or phenotype, to a specific genetic structure or genotype. The signatures of shared behavior may indicate shared gene pathways that lead to behaviors, which in turn could hint at the cause of autism.. "The power of the machine learning of the vector support system is that you can find hidden patterns, ie patterns that were not detected by statistical analysis without conventional supervision" says Hilgo Bruining, assistant professor of child and adolescent psychiatry at the University of Utrecht, who also led the study.. The researchers plan to sift through large sets of behavioral and genetic data of individuals with idiopathic autism. If the algorithm can identify new behavior signatures inside these sets of data, it may be able to divide into subgroups of autism and concentrate on the genome areas responsible with the disorder subtypes.. However, some experts call for caution with this ...
A case of Pervasive Developmental Delay analyzed with great clarity. - A Case of Pervasive Developmental Delay (PDD) - Clinical Cases
A 25-YEAR-OLD Pietermaritzburg woman celebrated Womens Day with her Best Media Personality award in hand. Lungi Dube was crowned at the Ingoma Awards in Pretoria on Saturday. Dube is not just a pretty face, she is a jack of all trades - she man...
Norbert Preining ,preining at logic.at, writes: , On Fri, 17 Jul 2015, Norbert Preining wrote: ,, , updmap(-sys) --listavailablemaps , , Fixed now, should be in todays update. updmap(-sys) --help returns: --8,---------------cut here---------------start-------------,8--- Commands: [...] --listmaps list all maps (details below) (details below) --listavailablemaps list available maps (details below) --8,---------------cut here---------------end---------------,8--- Is the duplication of `(details below) on purpose? (updmap.el, line 2244 ) Best, Arash ...
Generation of 3D Endodermal and Ectodermal Organoids from Skin Fibroblasts. Reprogramming of fibroblasts into induced pluripotent stem cells (iPSCs) enables in vitro differentiation into tissue-specific progenitors, such as intestinal stem cells, thyroid, or neuroectodermal progenitors. When grown under the right conditions in suspension, these progenitors self-organize into 3D tissues resembling the intestine, thyroid, optic cup, or cerebral cortex. , Image: Cell. ASD: Inhibitory Neurons Tip the Balance. Another research application of neural organoid cultures - and an example of how rapidly the new technology has spread since its 2013 beginnings at IMBA - focuses on autism spectrum disorder (ASD). ASD individuals display a broad spectrum of traits including impaired social development and communication, repetitive behaviors, unusual responses to sensory stimuli, atypical eating behavior, and sleep problems. Even though patients with idiopathic autism do not appear to share a single genetic ...
Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same
The pediatrician or specialist will study the causes, symptoms and follow proper diagnosis to check and control, if there are any developmental delay signs.