keyword
MENU ▼
Read by QxMD icon Read
search

chromosomal abnormalities development

keyword
https://www.readbyqxmd.com/read/29228117/aneuploidy-an-important-model-system-to-understand-salient-aspects-of-functional-genomics
#1
Shriram N Rajpathak, Deepti D Deobagkar
Maintaining a balance in gene dosage and protein activity is essential to sustain normal cellular functions. Males and females have a wide range of genetic as well as epigenetic differences, where X-linked gene dosage is an essential regulatory factor. Basic understanding of gene dosage maintenance has emerged from the studies carried out using mouse models with FCG (four core genotype) and chromosomal aneuploidy as well as from mono-chromosomal hybrid cells. In mammals, aneuploidy often leads to embryonic lethality particularly in early development with major developmental and structural abnormalities...
December 8, 2017: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/29226546/small-supernumerary-marker-chromosome-15-and-a-ring-chromosome-15-associated-with-a-15q26-3-deletion-excluding-the-igf1r-gene
#2
András Szabó, Márta Czakó, Kinga Hadzsiev, Balázs Duga, Zsolt Bánfai, Katalin Komlósi, Béla Melegh
Array comparative genomic hybridization is essential in the investigation of chromosomal rearrangements associated with epilepsy, intellectual disability, and dysmorphic features. In many cases deletions, duplications, additional marker chromosomes, and ring chromosomes originating from chromosome 15 lead to abnormal phenotypes. We present a child with epilepsy, cardiac symptoms, severely delayed mental and growth development, behavioral disturbances and characteristic dysmorphic features showing a ring chromosome 15 and a small supernumerary marker chromosome...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#3
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29219831/female-urothelial-cell-carcinoma-in-a-failed-kidney-graft-of-a-male-recipient
#4
H J J de Jongh, E M van Duijnhoven, A Rüland, M M A Abdul Hamid, E J M Speel, K van de Beek
We present a case of a male kidney transplant patient harbouring two kidney grafts of which one is functional. In the failed graft, he developed urothelial cell carcinoma with cells containing XX-chromosome, and female tumour cells were also found in the bladder. The patient underwent donor nephrectomy, was treated with epirubicin bladder instillations, and immunosuppression was tapered. Less than a year before re-transplantation a CT scan showed no abnormalities of the first graft. Transplantectomy before a second kidney transplantation is debated...
October 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/29219113/diagnostic-role-of-microrna-expression-profile-in-the-prenatal-amniotic-fluid-samples-of-pregnant-women-with-down-syndrome
#5
Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu
BACKGROUND: Down syndrome is the most common chromosomal anomaly in humans. Down syndrome is the most common chromosomal anomaly in humans affecting people from every race and age. Most of the cases are can be diagnosed by prenatal diagnostic methods in pregnancy. Due to the longtime of culture method applied for prenatal diagnosis, genetic analysis has been developed and developing for rapid diagnosis. For this reason, the effective use of miRNAs was investigated in the rapid analysis of prenatal samples with Down syndrome...
December 8, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29215515/isolated-absent-thelarche-in-a-patient-with-neurofibromatosis-type-1-and-acromegaly
#6
Anne E Martini, Jessica R Zolton, Alan H DeCherney
BACKGROUND: Isolated absent thelarche is a rare condition that is infrequently reviewed in the literature. CASE: A 28-year-old woman with neurofibromatosis type 1 and acromegaly presented with absent breast development despite hormone therapy. Examination noted a normally developed woman with acromegalic features and Tanner stage I breasts. Hormone studies and karyotype were normal. Magnetic resonance imaging of the patient's brain demonstrated a voluminous pituitary...
December 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29212915/altered-synaptic-transmission-and-maturation-of-hippocampal-ca1-neurons-in-a-mouse-model-of-human-chr16p11-2-microdeletion
#7
Hung-Chi Lu, Alea A Mills, Di Tian
The pathophysiology of neurodevelopmental disorders is often expressed early in infancy and toddlerhood. Mouse models of syndromic disorders have provided insight regarding mechanisms of action, but most studies have focused on characterization in juveniles and adults. Insight into developmental trajectories, particularly related to circuit and synaptic function, likely will yield important information regarding disorder pathogenesis that leads to symptom progression. Chromosome 16p11.2 microdeletion is one of the most common copy number variations associated with a spectrum of neurodevelopmental disorders...
December 6, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29203880/evidence-for-a-novel-function-of-awd-in-maintenance-of-genomic-stability
#8
Patrizia Romani, Serena Duchi, Giuseppe Gargiulo, Valeria Cavaliere
The abnormal wing discs (awd) gene encodes the Drosophila homolog of NME1/NME2 metastasis suppressor genes. Awd acts in multiple tissues where its function is critical in establishing and maintaining epithelial integrity. Here, we analysed awd gene function in Drosophila epithelial cells using transgene-mediated RNA interference and genetic mosaic analysis. We show that awd knockdown in larval wing disc epithelium leads to chromosomal instability (CIN) and induces apoptosis mediated by activation of c-Jun N-terminal kinase...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#9
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
December 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29197985/pervasive-interactions-of-sa-and-sb-loci-cause-high-pollen-sterility-and-abrupt-changes-in-gene-expression-during-meiosis-that-could-be-overcome-by-double-neutral-genes-in-autotetraploid-rice
#10
Jinwen Wu, Lin Chen, Muhammad Qasim Shahid, Minyi Chen, Qinglei Dong, Jirui Li, Xiaosong Xu, Xiangdong Liu
BACKGROUND: Intersubspecific autotetraploid rice hybrids possess high hybrid vigor; however, low pollen fertility is a critical hindrance in its commercial utilization. Our previous study demonstrated that polyploidy could increase the multi-loci interaction and cause high pollen abortion in autotetraploid rice hybrids. However, there is little known about the critical role of pollen sterility locus or loci in the intersubspecific hybrids. We developed autotetraploid rice hybrids harboring heterozygous genotypes (S i S i S j S j ) at different pollen sterility loci by using the near isogenic lines of Taichung65-4×...
December 2, 2017: Rice
https://www.readbyqxmd.com/read/29196537/esco1-2-s-roles-in-chromosome-structure-and-interphase-chromatin-organization
#11
Ryotaro Kawasumi, Takuya Abe, Hiroshi Arakawa, Massimiliano Garre, Kouji Hirota, Dana Branzei
ESCO1/2 acetyltransferases mediating SMC3 acetylation and sister chromatid cohesion (SCC) are differentially required for genome integrity and development. Here we established chicken DT40 cell lines with mutations in ESCO1/2, SMC3 acetylation, and the cohesin remover WAPL. Both ESCO1 and ESCO2 promoted SCC, while ESCO2 was additionally and specifically required for proliferation and centromere integrity. ESCO1 overexpression fully suppressed the slow proliferation and centromeric separation phenotypes of esco2 cells but only partly suppressed its chromosome arm SCC defects...
December 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/29195026/effects-of-the-insulin-like-growth-factor-system-on-testicular-differentiation-and-function-a-review-of-the-literature
#12
REVIEW
R Cannarella, R A Condorelli, S La Vignera, A E Calogero
We recently described the occurrence of cryptorchidism, oligoasthenoteratozoospermia, and genital abnormalities in patients with distal 15q chromosome structural abnormalities. This observation brought us to hypothesize that insulin-like growth factor (IGF) receptor (IGF1R), mapping on the 15q 26.3 chromosomal band, may be involved in testicular function. To further evaluate this topic, we reviewed in vitro and in vivo studies exploring the role of the IGF system [IGF1, IGF2, IGF1R, insulin receptor substrates (IRS)] at the testicular level both in animals and in humans...
December 1, 2017: Andrology
https://www.readbyqxmd.com/read/29193057/prognostic-utility-of-six-mutated-genes-for-older-patients-with-acute-myeloid-leukemia
#13
Jinghan Wang, Zhixin Ma, Qinrong Wang, Qi Guo, Jiansong Huang, Wenjuan Yu, Huanping Wang, Jingwen Huang, Yang Washington Shao, Suning Chen, Jie Jin
Approximately 50% of older patients with acute myeloid leukemia (AML) do not obtain chromosomal abnormalities as an effective risk-stratification, and present cytogenetically normal AML (CN-AML). In order to develop a reliable prediction model for stratifying the risk of these elderly patients, we conducted a study with a discovery and validation design. As a result, we found the top 6 mutated genes in the discovery cohort of 26 case by the whole exome sequencing, and verified as recurrent mutations in the large cohort of 329 patients by sanger sequencing...
November 29, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29191918/pml-nuclear-body-disruption-cooperates-in-apl-pathogenesis-and-impairs-dna-damage-repair-pathways-in-mice
#14
Edwige Voisset, Eva Moravcsik, Eva W Stratford, Amie Jaye, Christopher J Palgrave, Robert K Hills, Paolo Salomoni, Scott C Kogan, Ellen Solomon, David Grimwade
A hallmark of acute promyelocytic leukemia (APL) is altered nuclear architecture, with disruption of PML nuclear bodies (NBs) mediated by the PML-RARα oncoprotein. To address whether this phenomenon plays a role in disease pathogenesis, we generated a knock-in mouse model with NB disruption mediated by two point mutations (C62A/C65A) in the Pml RING domain. While no leukemias developed in PmlC62A/C65A mice, these transgenic mice also expressing RARα linked to a dimerization domain (p50-RARα model) exhibited a doubling in the rate of leukemia, with a reduced latency period...
November 30, 2017: Blood
https://www.readbyqxmd.com/read/29190730/increased-levels-of-plasma-total-tau-in-adult-down-syndrome
#15
Takashi Kasai, Harutsugu Tatebe, Masaki Kondo, Ryotaro Ishii, Takuma Ohmichi, Wing Tung Esther Yeung, Masafumi Morimoto, Tomohiro Chiyonobu, Naoto Terada, David Allsop, Masanori Nakagawa, Toshiki Mizuno, Takahiko Tokuda
Down syndrome (DS) is the most prevalent chromosomal abnormality. Early-onset dementia with the pathology of Alzheimer's disease (AD) frequently develops in DS. Reliable blood biomarkers are needed to support the diagnosis for dementia in DS, since positron emission tomography or cerebrospinal fluid sampling is burdensome, particularly for patients with DS. Plasma t-tau is one of the established biomarkers for the diagnosis of AD, suggesting the potential value of t-tau as a biomarker for dementia in DS. The aim of this study was to assess and compare plasma levels of t-tau in adults with DS and in an age-matched control population...
2017: PloS One
https://www.readbyqxmd.com/read/29188614/-clinical-and-genetic-analysis-of-a-boy-with-9q34-3-microdeletion-syndrome
#16
Dong Wu, Tao Li, Hongdan Wang, Weili Shi, Qiaofang Hou, Hui Zhang, Tao Wang, Yanli Yang, Shixiu Liao
OBJECTIVE: To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations. METHODS: The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29185843/morphological-and-chromosomal-abnormalities-in-gamma-radiation-induced-mutagenized-faba-bean-genotypes
#17
Nurmans Yah, Salem S Alghamdi, Hussein M Migdadi, Muhammad Farooq
PURPOSE: This study was conducted to evaluate and compare the influence of gamma radiations on morphological and chromosomal abnormalities in twenty mutagenized faba bean populations, representing first and second generations (M1 and M2) of five faba bean genotypes. MATERIALS AND METHODS: Five faba bean genotypes were exposed at two doses of gamma radiations (25 and 50 Gy). For determining the types of chromosomal aberrations caused by the gamma radiation, mitotic and meiotic cells were isolated from root tips and pollen mother cells, respectively...
November 29, 2017: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/29180645/combinations-of-chromosome-transfer-and-genome-editing-for-the-development-of-cell-animal-models-of-human-disease-and-humanized-animal-models
#18
REVIEW
Narumi Uno, Satoshi Abe, Mitsuo Oshimura, Yasuhiro Kazuki
Chromosome transfer technology, including chromosome modification, enables the introduction of Mb-sized or multiple genes to desired cells or animals. This technology has allowed innovative developments to be made for models of human disease and humanized animals, including Down syndrome model mice and humanized transchromosomic (Tc) immunoglobulin mice. Genome editing techniques are developing rapidly, and permit modifications such as gene knockout and knockin to be performed in various cell lines and animals...
November 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29173496/the-interaction-of-iron-and-the-genome-for-better-and-for-worse
#19
Marie-Bérengère Troadec, Olivier Loréal, Pierre Brissot
Iron, as an essential nutrient, and the DNA, as the carrier of genetic information which is physically compacted into chromosomes, are both needed for normal life and well-being. Therefore, it is not surprising that close interactions exist between iron and the genome. On the one hand, iron, especially when present in excess, may alter genome stability through oxidative stress, and may favor cell cycle abnormalities and the development of malignant diseases. The genome also receives a feedback signal from the systemic iron status, leading to promotion of expression of genes that regulate iron metabolism...
October 2017: Mutation Research
https://www.readbyqxmd.com/read/29165762/recent-perspectives-of-pediatric-neurodevelopmental-disorders
#20
D-L Zhang, S-Z Chen, X-M Liu
The assorted circumstances characterized by malfunctioning in cognition, communication or motor skills lead to abnormal development of the central nervous system (CNS) in young infants. These conditions are collectively termed as neurodevelopmental disorders (NDDs) and are usually diagnosed during childhood or infancy. NDDs occur as frequent as 1-3% in the general population and their diagnostic yield is approximately 15-25% with existing available techniques. So, the majority of affected patients are still undiagnosed due to genetic and phenotypic heterogeneity despite the discovery of 450 genes associated with NDDs...
October 2017: European Review for Medical and Pharmacological Sciences
keyword
keyword
56454
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"