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Proscevičius, Juozas
Possibility to receive hybrids between distantly related species is restricted by reproduction isolation barriers. To overcome such barriers different methods are explored. Our attempts to cross lilies from group AH (Asiatic hybrids) with distantly related species L. candidum for a long time was unsuccessful, until AH female was pollinated by ...
Hirota Kouji K Department of Radiation Genetics, Graduate School of Medicine, Kyoto University, Yoshidakonoe, Sakyo-ku, Kyoto, 606-8501, Japan; Department of Chemistry, Graduate School of Science and Engineering, Tokyo Metropolitan University, Minamiosawa 1-1, Hachioji-shi, Tokyo, 192-0397, - - 2014
RING finger protein 4 (RNF4) represents a subclass of ubiquitin ligases that target proteins modified by the small ubiquitin-like modifier (SUMO) for ubiquitin-mediated degradation. We disrupted the RNF4 gene in chicken DT40 cells and found that the resulting RNF4(-/-) cells gradually lost proliferation capability. Strikingly, this compromised proliferation was associated ...
Skakkebaek A A Department of Endocrinology and Internal Medicine (MEA), Aarhus University Hospital, Aarhus, - - 2014
Klinefelter syndrome (KS, 47,XXY) is associated with increased psychiatric morbidity and cognitive disabilities, although the neuropsychological phenotype shows great variability. Androgen receptor polymorphism (CAG repeat length), skewed X-chromosome inactivation and parent-of-origin of the extra X-chromosome have been suggested to influence cognitive function and psychological traits. These issues have not been ...
Xie Sheng S Department of - - 2014
The absence of all or part of one X chromosome in female humans causes Turner's syndrome (TS), providing a unique "knockout model" to investigate the role of the X chromosome in neuroanatomy and cognition. Previous studies have demonstrated TS-associated brain differences; however, it remains largely unknown 1) how the brain ...
Peddibhotla Sirisha S Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, - - 2014
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may ...
Maehiro Sayaka S Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Bunkyo, Tokyo 113-0033, - - 2014
In vertebrates, sex differences in the brain have been attributed to differences in gonadal hormone secretion; however, recent evidence in mammals and birds shows that sex chromosome-linked genes, independent of gonadal hormones, also mediate sex differences in the brain. In this study, we searched for genes that were differentially expressed ...
Yurov Yuri B - - 2014
Although the link between brain aging and Alzheimer's disease (AD) is a matter of debate, processes hallmarking cellular and tissue senescence have been repeatedly associated with its pathogenesis. Here, we have studied X chromosome aneuploidy (a recognized feature of aged cell populations) in the AD brain. Extended molecular neurocytogenetic analyses ...
Wang Xinghui X Hefei National Laboratory of Physical Sciences at the Microscale, University of Science and Technology of China, Hefei, China; Anhui key Laboratory of Cellular Dynamics and Chemical Biology, University of Science and Technology of China, Hefei, - - 2014
The spindle assembly checkpoint (SAC) is a surveillance mechanism monitoring cell cycle progression, thus ensuring accurate chromosome segregation. The conserved mitotic kinase Mps1 is a key component of the SAC. The human Mps1 exhibits comprehensive phosphorylation during mitosis. However, the related biological relevance is largely unknown. Here, we demonstrate that ...
van Binsbergen Ellen - - 2013
Deletions of the long arm of chromosome 2 are rare. Few cases of interstitial deletions of the 2q33q35 region have been reported. Individuals with deletions in this region have growth retardation, psychomotor retardation, micrognathia, microcephaly, and apparently low-set ears. We describe a female fetus with a de novo deletion of ...
Lepage J-F - - 2013
The neurocognitive and behavioral profile of individuals with 47,XYY is increasingly documented; however, very little is known about the effect of a supernumerary Y-chromosome on brain development. Establishing the neural phenotype associated with 47,XYY may prove valuable in clarifying the role of Y-chromosome gene dosage effects, a potential factor in ...
Mitchell Amanda C - - 2013
Less than 1.5% of the human genome encodes protein. However, vast portions of the human genome are subject to transcriptional and epigenetic regulation, and many noncoding regulatory DNA elements are thought to regulate the spatial organization of interphase chromosomes. For example, chromosomal "loopings" are pivotal for the orderly process of ...
Raznahan Armin - - 2013
The capacity of sex to modify behavior in health and illness may stem from biological differences between males and females. One such difference - fundamental to the biological definition of sex - is inequality of X chromosome dosage. Studies of Turner syndrome (TS) suggest that X-monosomy profoundly alters mammalian brain ...
Ulgiati Fiorenza F Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, Viale Regina Elena, 324 00161 Rome, - - 2013
Sex chromosome anomalies have been previously associated with several brain malformations including posterior fossa anomalies, such as cerebellar dysplasia or hypoplasia, cerebellar cysts, vermis dysgenesis or hypoplasia, and mega cistern magna. XYY syndrome is a sex chromosome aneuploidy characterized by an extra copy of the Y chromosome. Although it has ...
Lepage Jean-Francois JF Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, Stanford, California 94305, - - 2013
There is increasing evidence that genomic imprinting, a process by which certain genes are expressed in a parent-of-origin-specific manner, can influence neurogenetic and psychiatric manifestations. While some data suggest possible imprinting effects of the X chromosome on physical and cognitive characteristics in humans, there is no compelling evidence that X-linked ...
Van Maldergem Lionel L Centre de Génétique Humaine, Université de Franche-Comté, 25000 Besançon, France. - - 2013
Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we reported in 2004. Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing ...
Ciuladaite Zivile - - 2013
Developmental delay and brain anomalies leading to significant morbidity and mortality are frequently caused by chromosomal rearrangements. We report on a familial unbalanced translocation resulting in distal monosomy 5p15.3-pter with trisomy 12q24.2-qter in 2 half siblings with cerebral dysgenesis, severe intellectual disability, dysmorphic features, progressive weakness, and atrophy of muscles.
St Clair David - - 2013
Copy number variants are small chromosomal deletions and duplications. When they alter the dose of genes critical for normal brain development and adult brain functioning they may cause severe disorders such as autism and schizophrenia. Numerous such loci have recently been identified. They are offering amazing leads for neuropsychiatric research.
Ishihara Keiichi - - 2013
  Down syndrome (DS), caused by triplication of human chromosome 21, is the most common aneuploidy. A mouse model of DS may be useful for the investigation of DS pathophysiology. Ts1Cje mouse, an established DS mouse model, is widely used in DS research. It carries a trisomic segment of mouse chromosome ...
Di Benedetto Daniela D Laboratory of Medical Genetics, I,R,C,C,S, Associazione Oasi Maria Santissima, Troina, Italy. - - 2013
The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), ...
Aldinger Kimberly A KA Committee on Neurobiology, The University of Chicago, Chicago, IL, - - 2013
The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech. Two patients with hemizygous chromosome 22q13.3 telomeric deletion were referred to us when brain-imaging studies revealed cerebellar vermis hypoplasia (CBVH). To determine whether developmental ...
Adeli Anahita - - 2012
A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the cause underlying frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). In this atypical case of c9FTD/ALS, the proband presented with amnestic mild cognitive impairment which evolved ...
Bozza Margherita - - 2012
Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome, characterized by intellectual disability, language impairment, hearing deficit, craniofacial, ophthalmologic, cardiac, and varying central nervous system anomalies. We report on two dyzogotic twins with a maternal segregating hemizygous interstitial deletion on chromosome 6p25.1, spanning 0.9 kb; the smallest ever reported. ...
Saliminejad Kioomars - - 2012
We would like to comment on some flaws in the study by Hadjkacem-Lukil and colleagues in the September/October 2007 issue of Journal of Andrology who suggested new STS markers for diagnostic testing of Y chromosome microdeletions in Tunisian population. They reported twelve patients with deletion of only one of the ...
Assem Mahfoud - - 2012
Malignant gliomas are the most frequent type of primary brain tumors. Patients' outcome has not improved despite new therapeutics, thus underscoring the need for a better understanding of their genetics and a fresh approach to treatment. The lack of reproducibility in the classification of many gliomas presents an opportunity where ...
Carmena Mar - - 2012
[This corrects the article on p. e1001250 in vol. 10.].
Novelli Antonio - - 2012
OBJECTIVES: At present, a precise guideline establishing chromosome microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The actual controversial question is whether CMA technologies can or should shortly replace the standard karyotype in prenatal diagnosis practice. METHODS: Based on review of the recent literature and ...
Alberts Rudi - - 2012
ABSTRACT: After publication of our article Respiratory Research 2011, 12:61, we became aware of a typographical error in the Methods section, which concerned the statement about the p-value of an LRS of 18 or higher in our QTL analysis. Below is the first part of the corresponding chapter with the ...
Poletti Enea - - 2012
Karyotype analysis is a widespread procedure in cytogenetics to assess the presence of genetic defects by the visualization of the structure of chromosomes. The procedure is lengthy and repetitive and an effective automatic analysis would greatly help the cytogeneticist routine work. Still, automatic segmentation and the full disentangling of chromosomes ...
Brock Jo-Ann K - - 2012
We report on the fifth case, and oldest reported patient, of an individual affected with mosaic tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic tetrasomy 5p is defined, and includes the following features seen in the reported cases: developmental delay, seizures, ventriculomegaly (other brain ...
- - 2012
[This corrects the article on p. 181 in vol. 4, PMID: 22276033.].
Gusmão Leonor - - 2012
During the two last decades, STR markers located on the autosomes have been gaining relevance and have nearly replaced the use of other type of markers in most cases of genetic identification, paternity testing, as well as in other situations of kinship analysis. Nevertheless, in some complex cases, independently of ...
Qu Zhen - - 2012
[This corrects the article on p. e28463 in vol. 7.].
Danford Natalie - - 2012
Chromosome aberration analysis has been the basis of one of core tests in genetic toxicology since guidelines were first established (DHSS (1981) Guidelines for the Testing of Chemicals for Mutagenicity. Prepared by the Committee on Mutagenicity of Chemcials in Food, Consumer Products, and the Environment, Department of Health and Social ...
Qu Zhen - - 2012
[This corrects the article on p. e28463 in vol. 7.].
Anguiano Arturo - - 2012
Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of ...
Chen Chih-Ping - - 2011
OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) associated with microduplications at 8p and 10p in a fetus with an apparently pure 4p deletion. CASE REPORT: A 35-year-old gravida 2, para 1 woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. ...
Murphy Kathleen M - - 2011
Distinction of hydatidiform moles from nonmolar specimens and their subclassification as complete (complete hydatidiform mole) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies to refine ascertainment of risk of persistent gestational trophoblastic disease, which differs among these entities. Immunohistochemical analysis of p57 expression, a paternally ...
Marzougui Salem - - 2011
Seed dormancy-the temporary failure of a viable seed to germinate under favorable conditions-is a complex characteristic influenced by many genes and environmental factors. To detect the genetic factors associated with seed dormancy in rice, we conducted a QTL analysis using chromosome segment substitution lines (CSSLs) derived from a cross between ...
Kannabiran Chitra - - 2011
Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders resulting in severe visual loss and blindness that have remained incurable till date. We report the mapping of the disease locus in a 3-generation family of Indian origin with autosomal dominant RP (ADRP). Diagnosis of RP and recruitment ...
White Stefan - - 2012
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. Here, we describe the analysis of a 46,XY ...
Lo Chiening C UCL, Institute of Neurology, Department of Clinical and Experimental Epilepsy, Queen Square WC1N 3BG, United Kingdom. - - 2012
In this study, we report the results of a genetic linkage analysis of a large family with photoparoxysmal response, defined by the presence of a photoparoxysmal response (PPR) on EEG. The participants were genotyped using an 8 cM whole genome wide scan, and both parametric and non-parametric linkage analysis were ...
Jin Jinglan - - 2011
Pediatric lipomas are rare and their etiology is unknown. As in adult lipomas, a segment of 12q13-q15 has been documented as a common chromosomal rearrangement region. Here, we report a pediatric lipoma case without rearrangement of 12q13-q15 but with an apparently balanced translocation involving chromosomes 8 and 13 [t(8;13)(q21;q22)] detected ...
Ferfouri Fatma - - 2011
A complex chromosome rearrangement (CCR) can be defined as a structural chromosomal aberration that involves at least three breakpoints located on two or more chromosomes. Highly unbalanced gametes may lead to infertility or congenital malformations. Here is reported a double rearrangement considered as the simplest possible CCR and, in a ...
Schmid Maximilian - - 2011
OBJECTIVE: To evaluate the use of microarray analysis as a tool for the detection of submicroscopic chromosomal aberrations in prenatal diagnosis. METHODS: Twelve consecutive singleton fetuses with congenital heart defects but normal karyotype and normal fluorescence in situ hybridization results for the DiGeorge region were examined for chromosomal aberrations by ...
Dawson A J - - 2011
Most patients with acute lymphocytic leukemia (all) are reported to have acquired chromosomal abnormalities in their leukemic bone marrow cells. Many established chromosome rearrangements have been described, and their associations with specific clinical, biologic, and prognostic features are well defined. However, approximately 30% of pediatric and 50% of adult patients ...
Chaubey Rekha - - 2011
Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by ineffective haematopoiesis and leukaemia progression. Cytogenetic analysis has proven to be a mandatory part of the diagnosis of MDS as well as a major indicator for predicting clinical course and outcome. Studies on cytogenetics of MDS are reported ...
Prontera Paolo - - 2011
We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a ...
Tohyama Jun - - 2011
FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker ...
Chen Chih-Ping - - 2011
To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction and to review the literature. A 26-year-old, primigravid woman was referred for amniocentesis at 30 weeks of gestation because of hydrocephalus and short limbs. Prenatal ultrasound showed ...
Zheng Xianhu - - 2011
A genetic linkage map is a powerful research tool for mapping traits of interest and is essential to understanding genome evolution. The aim of this study is to provide an expanded genetic linkage map of common carp to effectively carry out quantitative trait loci analysis and conduct comparative mapping analysis ...
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