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Waddell Barbara B Department of Microbiology, Immunology and Infectious Diseases, Snyder Institute for Chronic Diseases, University of - - 2014
Vibrio parahaemolyticus is an important cause of gastroenteritis resulting from the consumption of raw or undercooked shellfish. The V. parahaemolyticus genome revealed the presence of two type III secretion systems (T3SS); one on each of the two chromosomes. To date, four effectors have been identified as secreted by the chromosome ...
Gagliardi L John - - 2013
ABSTRACT: Experiments have shown that the intracellular pH of many cells rises to a maximum at the onset of mitosis, subsequently decreasing 0.3 to 0.5 pH units by the end of mitosis. This result, and observations that tubulin net charge depends strongly on pH, may be critical for microtubule (MT) ...
Verhagen Judith M A - - 2012
Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions ...
Wall Meaghan - - 2012
Abnormalities of chromosome 7 and deletion of part of the short arm of chromosome 12 (del(12p)) are non-random recurrent cytogenetic abnormalities in myeloid neoplasms. The commonly deleted region on chromosome 12 maps to a region that includes the ETV6 gene. The reported rate of ETV6 loss in unselected myelodysplastic syndromes ...
Niida Yo - - 2012
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme arylsulfatase A encoded by the ARSA gene located on 22q13.33. Typically, in autosomal recessive disease, a patient inherits two mutations from both parents who are heterozygous carriers. However, in some instances, it is possible ...
Cetin Zafer - - 2012
Pure partial trisomy of chromosome 21 is a rare event. The patients with this aberration are very important for setting up precise karyotype-phenotype correlations particularly in Down syndrome phenotype. We present here a patient with Down syndrome with a de novo derivative chromosome 21. Karyotype of the patient was designated ...
Cortés-Gutiérrez Elva I - - 2012
A systematic search for a hidden Y-chromosome mosaicism, in Turner syndrome (TS) patients is justified by the evaluation of the risk of development of germ cell tumors. In this study, we analyzed cryptic Y-chromosome derivatives by polymerase chain reaction (PCR) coupled with fluorescence in situ hybridization (FISH) using Y-specific sequences in ...
Cerveira Nuno - - 2012
Chromosomal rearrangements affecting the MLL gene are associated with high-risk pediatric, adult and therapy-associated acute leukemia. In this study, conventional cytogenetic, fluorescence in situ hybridization, and molecular genetic studies were used to characterize the type and frequency of MLL rearrangements in a consecutive series of 45 Portuguese patients with MLL-related ...
Quelin Chloe - - 2012
Polymicrogyria is a relatively common cortical malformation characterized by multiple small gyri with abnormal cortical lamination. The pathophysiological bases are heterogeneous and include extrinsic factors and genetic causes. Recent data has emphasized the high prevalence of chromosomal rearrangements in bilateral and mainly perisylvian polymicrogyria in the context of multiple congenital ...
Spengler Sabrina - - 2012
OBJECTIVE: To determine the contribution of submicroscopic chromosomal imbalances to the etiology of Silver-Russell syndrome (SRS) and SRS-like phenotypes. STUDY DESIGN: We performed molecular karyotyping in 41 patients with SRS or SRS-like features without known chromosome 7 and 11 defects using the Affymetrix SNP Array 6.0 system (Affymetrix, High Wycombe, ...
Mancini T I - - 2012
We present a 2-year-old boy with a de novo 46,XY,idic(Y)(q11.221),del(4)(q26q31.1) karyotype. G-banding, FISH, MLPA, and SNP-array techniques were used to characterize the 24-Mb deletion in 4q and the breakpoint in the isodicentric Y-chromosome region between 15,982,252 and 15,989,842 bp. The patient presented with mild facial dysmorphism, hemangioma, mild frontal cerebral ...
Ocal Gönül G Department of Pediatric Endocrinology, Medical School of Ankara University, Ankara, - - 2012
Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with ...
Olckers Antonel - - 2012
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by weakness and atrophy of the facial and shoulder girdle muscles. The FSHD phenotype segregates as an autosomal dominant trait and is caused by a deletion of an integral number of 3.3 kilobase pair (kb) repeat units on chromosome 4q35. Haplotype and Southern blot ...
Liang Desheng - - 2012
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is caused by a deletion involving the 4p16.3 region. Approximately 70% of WHS patients have a de novo isolated deletion and 22% involve unbalanced translocations. However, WHS with unbalanced rearrangements involving the short arm of an acrocentric chromosome are infrequently reported. METHODS: Cytogenetic and molecular analyses ...
Tzschach Andreas - - 2012
Interstitial deletions of chromosome bands 9q34.11-q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11-q34.13. The deletion ...
Mekkawy Mona - - 2012
Isodicentric chromosome formation is the most common structural abnormality of the Y chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell division resulting in mosaicism with a 45,X cell line. We report on six patients with variable signs of disorders of sex development (DSD) including ambiguous genitalia, ...
Werner Marie - - 2012
To estimate the prevalence of chromosomally abnormal related miscarriages in an infertile population. Retrospective analysis of cytogenetics obtained by chorionic villi harvesting of the first miscarriage cycle of infertile patients at our center from 2001-2010 were reviewed. Abnormal results were characterized as trisomy, monosomy X, structural, or other. Age, # ...
Chen Yiming Y Department of Leukemia, University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, - - 2012
This phase II study assessed the efficacy and safety of lenalidomide in patients with relapsed/refractory acute myeloid leukemia (N = 18) and high-risk myelodysplastic syndrome (N = 9) with chromosome 5 abnormalities. The overall complete remission rate with or without platelet recovery was 7% (2/27). Activity of lenalidomide was limited ...
Valetto Angelo - - 2012
We report on a de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9 Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map). Patients with partial monosomy 21 are quite rare; this ...
Recalcati Maria Paola - - 2012
We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3Mb terminal deletion associated with the inverted duplication of the adjacent 21,5Mb region. The patient shows developmental delay, psychomotor retardation, ...
Nowak Daniel - - 2012
To search for new copy number alterations (CNAs) in acute promyelocytic leukemia (APL), we analyzed DNA from leukemic blasts of 93 acute promyelocytic leukemia (APL) patients with Genome-Wide SNP 6.0 arrays (SNP-A). We identified 259 CNAs consisting of 170 heterozygous deletions, 82 amplifications, and 7 regions of copy number neutral ...
Brandt Tracy - - 2012
Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven ...
Safai Akbar - - 2012
Secondary amenorrhea is a condition in which there is cessation of menses after at least one menstruation. It is a symptom of different diseases, such as hormonal disturbances which range from pituitary to ovarian origin, as well as chromosomal abnormalities. Knowledge of the distinct cause of secondary amenorrhea is of ...
Goede Joery - - 2012
A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM). Both cases demonstrate that TM occurs in patients with various chromosomal abnormalities.
Kiyotani Kazuma - - 2012
Genetic factors are thought to be one of the causes of individual variability in the adverse reactions observed in cancer patients who received gemcitabine therapy. However, genetic factors determining the risk of adverse reactions of gemcitabine are not fully understood. To identify a genetic factor(s) determining the risk of gemcitabine-induced ...
Dubois V - - 2012
Although acquired uniparental disomy (aUPD) has been reported in relapse acute myeloid leukemia (AML), pretransplant aUPD involving chromosome 6 is poorly documented. Such events could be of interest because loss of heterozygosity (LOH) resulting from aUPD in leukemic cells may lead to erroneous results if HLA typing for hematopoietic stem ...
Elens Iris - - 2012
BACKGROUND: Ring chromosome 20 syndrome is a rare chromosomal disorder. METHODS: In six patients, we focused on the presenting epileptic phenotype, the behavioral and mental problems and the relationship between the ratio of mosaicism and the age at onset of the epilepsy. RESULTS: All patients presented with pharmacoresistant frontal lobe ...
Fu Li - - 2012
To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men. This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reaction(PCR)were performed in 200 controls and ...
Lai Lisa A LA Department of Medicine, University of Washington, Seattle, WA, United - - 2012
BAC arrays were used to evaluate genomic instability along the colon of patients with ulcerative colitis (UC). Genomic instability increases with disease progression and biopsies more proximal to dysplasia showed increased instability. Pan-colonic field copy number gain or loss involving small (<1Mb) regions were detected in most patients and were ...
Jerez Andres - - 2012
Interstitial deletions of chromosome 5q are common in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), pointing toward the pathogenic role of this region in disease phenotype and clonal evolution. The higher level of resolution of single-nucleotide polymorphism array (SNP-A) karyotyping may be used to find cryptic abnormalities and to ...
Huang Can - - 2012
13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion display a variety of phenotypic features. We describe a one-year-old female patient with congenital heart defects (CHD), facial anomalies, development and mental retardation. We identified a 12.75Mb deletion ...
Yamada Hiroshi Y - - 2012
Chromosome instability (CIN) is found in 85% of colorectal cancers. Defects in mitotic processes are implicated in high CIN and may be critical events in colorectal tumorigenesis. Shugoshin-1 (SGO1) aids in the maintenance of chromosome cohesion and prevents premature chromosome separation and CIN. In addition, integrity of the centrosome may ...
Hoefele Julia - - 2012
Renal coloboma syndrome (RCS) is considered to be a rare autosomal dominant inherited disorder characterized by renal malformations and optic disc coloboma. Ocular anomalies range from asymptomatic abnormalities in retinal blood vessel patterning to large excavations of the optic nerve associated with reduced visual acuity. Commonly observed manifestations of the ...
Vasco Chiara - - 2012
The house mouse is characterised by highly variable chromosome number due to the presence of Robertsonian (Rb) chromosomes. During meiosis in Rb heterozygotes, intricated chromosomal figures are produced, and many unsynapsed regions are present during the first prophase, triggering a meiotic silencing of unsynapsed chromatin (MSUC) in a similar mode ...
Bennour Ayda - - 2012
A specific chromosomal abnormality, the Philadelphia chromosome (Ph), is present in 90 - 95% of patients with chronic myeloid leukemia (CML). This aberration results from a reciprocal translocation between chromosomes 9 and 22, creating a BCR/ABL fusion gene. The diagnosis of CML is based on the detection of BCR/ABL gene ...
Paramayuda Chrysantine - - 2012
Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical ...
Bakshi Sonal R - - 2012
Trisomy of chromosome 8 is frequently reported in myeloid lineage disorders and also detected in lymphoid neoplasms as well as solid tumors suggesting its role in neoplastic progression in general. It is likely to be a disease-modulating secondary event with underlying cryptic aberrations as it has been frequently reported in ...
Lia Marie - - 2011
Deletion of chromosomal region 13q14 represents the most common genetic aberration in B-cell chronic lymphocytic leukemia (CLL). 13q14 deletions are commonly large and heterogeneous in size, affecting multiple genes. We recently published that targeted deletion in mice of the 0.11 megabase (mb)-long minimal deleted region (MDR) encompassing the DLEU2/miR-15a/16-1 cluster ...
Everett Eric T - - 2011
Genetic factors underlie the susceptibility and the resistance to dental fluorosis (DF). The A/J (DF susceptible) and 129P3/J (DF resistant) mouse strains have previously been used to detect quantitative trait loci (QTLs) associated with DF on chromosome (Chr) 2 and Chr 11. In the present study, increased marker density genotyping ...
Ayed-Boussema Imen - - 2011
Dimethoate (DM) is an organophosphate insecticide with numerous uses on field and agricultural crops and ornamentals. Data concerning DM-acute genotoxicity are controversial and knowledge on its delayed effect is limited. For this reason, we aimed to further explore DM genotoxicity resulting from subchronic intoxication of experimental mice. Thus, DM was ...
Horev Guy - - 2011
Recurrent copy number variations (CNVs) of human 16p11.2 have been associated with a variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11.2 is found in patients with autism, developmental delay, and obesity. Patients with deletions or duplications have a wide range of clinical features, and siblings carrying the same deletion ...
Reinholdt Laura G LG The Jackson Laboratory, Genetic Resource Science, ME, 04609, USA. - - 2011
Ts65Dn is a mouse model of Down syndrome: a syndrome that results from chromosome (Chr) 21 trisomy and is associated with congenital defects, cognitive impairment, and ultimately Alzheimer's disease. Ts65Dn mice have segmental trisomy for distal mouse Chr 16, a region sharing conserved synteny with human Chr 21. As a ...
Turtzo L Christine LC Department of Neurology, University of Connecticut Health Center, Farmington, Connecticut 06030, - - 2011
Gonadal hormones contribute to ischemic neuroprotection, but cannot fully explain the observed sexual dimorphism in stroke outcomes seen during life stages with low sex steroid hormones. Sex chromosomal complement (XX in females; XY in males) may also contribute to ischemic sexual dimorphism. A transient middle cerebral artery occlusion model was ...
Winawer Melodie R MR Department of Neurology, Columbia University, New York, New York 10032, USA. - - 2011
Mapping seizure susceptibility loci in mice provides a framework for identifying potentially novel candidate genes for human epilepsy. Using C57BL/6J × A/J chromosome substitution strains (CSS), we previously identified a locus on mouse chromosome 10 (Ch10) conferring susceptibility to pilocarpine, a muscarinic cholinergic agonist that models human temporal lobe epilepsy ...
Sim┼ček-Kiper Pelin Ozlem - - 2011
Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and growth retardation, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial characteristics. We here report on a patient with 2q37 microdeletion presenting with learning difficulty, hyperactivity and attention deficit. Physical examination revealed psychomotor and growth retardation, facial ...
Verma Anjana - - 2011
The cytogenetic toxicity of the crude leaf extract of Aloe vera, a medicinal plant, was evaluated in two test systems, onion and Swiss albino mice, using their root tip meristematic and bone marrow cells, respectively. No significant increase in structural abnormalities in chromosomes was observed, but a marked increase in ...
Caeiro Ximena E - - 2011
To investigate whether sex chromosome complement modulates bradycardic baroreflex response and contributes to the angiotensin II-bradycardic baroreflex sex differences, we used the four core genotype mouse model in which the effect of gonadal sex and sex chromosome complement is dissociated, allowing comparisons of sexually dimorphic traits among XX and XY ...
White Michael A - - 2011
Reproductive isolation between species is often caused by deleterious interactions among loci in hybrids. Finding the genes involved in these incompatibilities provides insight into the mechanisms of speciation. With recently diverged subspecies, house mice provide a powerful system for understanding the genetics of reproductive isolation early in the speciation process. ...
Denda Kimitoshi - - 2011
The complete mechanism of labor induction in eutherian mammals remains unclear. Although important roles for the fetus and placenta in triggering labor have been proposed, no gene has been shown to be required in the fetus/placenta for labor induction. Here we show that Nrk, an X-linked gene encoding a Ser/Thr ...
Asghari Farahnaz - - 2011
Background and aims Autoimmune pancreatitis (AIP) represents a rare but clinically relevant cause of pancreatic inflammation. Using MRL/Mp mice as a model of spontaneous AIP, the genetic basis of the disease was studied. Methods To identify quantitative trait loci (QTL) of AIP, an advanced intercross line was studied, originating from ...
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