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"Chromosome 18"

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https://www.readbyqxmd.com/read/29666005/unexpected-favorable-outcome-in-a-patient-with-high-grade-b-cell-lymphoma-with-abnormalities-of-myc-bcl6-and-bcl2-loci
#1
Thomas Adams, Deborah Fuchs, Patricia K Shadoan, Laurel Johnstone, Branden M Lau, Lee McGhan, Faiz Anwer, Hussam Al-Kateb
High grade B-cell lymphoma (HGBCL) by WHO 2016 classification requires rearrangements of MYC and BCL2 and/or BCL6, practically covering the so called "double-hit" or "triple hit" lymphomas. We report a case of HGBCL "triple-hit" lymphoma in a 64-year old female. Cytogenetic and fluorescence in situ hybridization (FISH) studies revealed complex karyotype including rearrangement of MYC to a novel, non-IG partner on chromosome 18, and rearrangement of BCL2, BCL6 and IGH as well as ins(3)(q21q27...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29643404/canine-napepld-associated-models-of-human-myelin-disorders
#2
K M Minor, A Letko, D Becker, M Drögemüller, P J J Mandigers, S R Bellekom, P A J Leegwater, Q E M Stassen, K Putschbach, A Fischer, T Flegel, K Matiasek, K J Ekenstedt, E Furrow, E E Patterson, S R Platt, P A Kelly, J P Cassidy, G D Shelton, K Lucot, D L Bannasch, H Martineau, C F Muir, S L Priestnall, D Henke, A Oevermann, V Jagannathan, J R Mickelson, C Drögemüller
Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense variant located in the highly conserved metallo-beta-lactamase domain of the N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD) gene, encoding an enzyme of the endocannabinoid system...
April 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29619224/sperm-aneuploidy-and-dna-fragmentation-in-unexplained-recurrent-pregnancy-loss-a-multicenter-case-control-study
#3
Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan
Background: Recurrent pregnancy loss (RPL) is defined as the loss of at least three pregnancies in the first trimester. Although the most common cause is embryo aneuploidy, and despite female checkup and couple karyotyping, in about 50% of cases RPL remain unexplained. Male implication has little been investigated and results are discordant. In this context, we conducted a multi-center prospective case-control study to investigate male gamete implication in unexplained RPL. Methods: A total of 33 cases and 27 controls were included from three university hospitals...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29617389/qtls-underlying-the-genetic-interrelationship-between-efficient-compatibility-of-bradyrhizobium-strains-with-soybean-and-genistein-secretion-by-soybean-roots
#4
Clarissien Ramongolalaina, Masayoshi Teraishi, Yutaka Okumoto
Soybean plants establish symbiotic relationships with soil rhizobia which form nodules on the plant roots. Nodule formation starts when the plant roots exudate isoflavonoids that induce nod gene expression of a specific Bradyrhizobium. We examined the specific indigenous rhizobia that form nodules with the soybean cultivars Peking and Tamahomare in different soils. PCR-RFLP analysis targeted to the 16S-23S rRNA gene internal transcribed spacer (ITS) region of the bacterial type of each root nodule showed that Bradyrhizobium japonicum (USDA110-type) and Bradyrhizobium elkanii (USDA94-type) had high compatibility with the Tamahomare and Peking cultivars, respectively...
2018: PloS One
https://www.readbyqxmd.com/read/29603904/the-chromosome-18-clinical-resource-center
#5
Jannine D Cody, Minire Hasi-Zogaj, Patricia Heard, Annice Hill, David Rupert, Courtney Sebold, Bridgette Soileau, Daniel E Hale
BACKGROUND: The Chromosome 18 Clinical Research Center has created a pediatrician-friendly virtual resource center for managing patients with chromosome 18 abnormalities. To date, children with rare chromosome abnormalities have been cared for either symptomatically or palliatively as a reaction to the presenting medical problems. As we enter an era of genomic-informed medicine, we can provide children, even those with individually unique chromosome abnormalities, with proactive medical care and management based on the most contemporary data on their specific genomic change...
March 30, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29602769/whole-exome-sequencing-identifies-germline-mutation-in-tp53-and-atrx-in-a-child-with-ge-nomically-aberrant-at-rt-and-her-mother-with-anaplastic-astrocytoma
#6
Kristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, Joonas Tuominen, Matti Annala, Sergei Hayrynen, Ritva Karhu, Pauli Helen, Olli Lohi, Matti Nykter, Hannu Haapasalo, Kirsi Granberg
Brain tumors typically arise sporadically and do not affect several family members simultaneously. In the present study, we describe clinical and genetic data from two patients, a mother and her daughter, with familial brain tumors. Exome sequencing revealed a germline missense mutation in the TP53 and ATRX genes in both cases, and a somatic copy-neutral loss of heterozygosity (LOH) in TP53 in both atypical teratoid/rhabdoid tumor (AT/RT) and astrocytoma tumors. ATRX mutation was associated with the loss of ATRX protein expression...
March 30, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29563141/monosomy-18p-is-a-risk-factor-for-facioscapulohumeral-dystrophy
#7
Judit Balog, Remko Goossens, Richard J L F Lemmers, Kirsten R Straasheijm, Patrick J van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M Donlin-Smith, Claudia A L Ruivenkamp, Patricia Heard, Stephen J Tapscott, Jannine D Cody, Rabi Tawil, Sabrina Sacconi, Silvère M van der Maarel
BACKGROUND: 18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 ( SMCHD1 ) is hemizygous in most patients with 18p deletions. Digenic inheritance of a SMCHD1 mutation and a moderately sized D4Z4 repeat on a facioscapulohumeral muscular dystrophy (FSHD) permissive genetic background of chromosome 4 can cause FSHD type 2 (FSHD2)...
March 21, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29544220/genotype-phenotype-analysis-neuropsychological-assessment-and-growth-hormone-response-in-a-patient-with-18p-deletion-syndrome
#8
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29492108/human-ring-chromosome-registry-for-cases-in-the-chinese-population-re-emphasizing-cytogenomic-and-clinical-heterogeneity-and-reviewing-diagnostic-and-treatment-strategies
#9
REVIEW
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29478599/facioscapulohumeral-muscular-dystrophy
#10
Rabi Tawil
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy with a distinctive pattern of skeletal muscle weakness and a wide spectrum of disease severity. The pathophysiologic consequences of the genetic lesion, the loss of a critical number of macrosatellite repeats (D4Z4) in the subtelomeric region of chromosome 4q35, remained unexplained for almost two decades. Recent studies demonstrate that contraction in the number of D4Z4 repeats results in chromatin relaxation and transcriptional de-repression of DUX4, a gene normally expressed only in the germline...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29473895/the-gene-centric-content-management-system-and-its-application-for-cognitive-proteomics
#11
Ekaterina V Poverennaya, Alexander V Shargunov, Elena A Ponomarenko, Andrey V Lisitsa
The Human Proteome Project is moving into the next phase of creating and/or reconsidering the functional annotations of proteins using the chromosome-centric paradigm. This challenge cannot be solved exclusively using automated means, but rather requires human intelligence for interpreting the combined data. To foster the integration between human cognition and post-genome array a number of specific tools were recently developed, among them CAPER, GenomewidePDB, and The Proteome Browser (TPB). For the purpose of tackling the task of protein functional annotating the Gene-Centric Content Management System (GenoCMS) was expanded with new features...
February 23, 2018: Proteomes
https://www.readbyqxmd.com/read/29467581/tetrasomy-18p-case-report-and-review-of-literature
#12
Shahad Bawazeer, Maha Alshalan, Aziza Alkhaldi, Nasser AlAtwi, Mohammed AlBalwi, Abdulrahman Alswaid, Majid Alfadhel
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29462210/snp-markers-tightly-linked-to-root-knot-nematode-resistance-in-grapevine-vitis-cinerea-identified-by-a-genotyping-by-sequencing-approach-followed-by-sequenom-massarray-validation
#13
Harley M Smith, Brady P Smith, Norma B Morales, Sam Moskwa, Peter R Clingeleffer, Mark R Thomas
Plant parasitic nematodes, including root knot nematode Meloidogyne species, cause extensive damage to agriculture and horticultural crops. As Vitis vinifera cultivars are susceptible to root knot nematode parasitism, rootstocks resistant to these soil pests provide a sustainable approach to maintain grapevine production. Currently, most of the commercially available root knot nematode resistant rootstocks are highly vigorous and take up excess potassium, which reduces wine quality. As a result, there is a pressing need to breed new root knot nematode resistant rootstocks, which have no impact on wine quality...
2018: PloS One
https://www.readbyqxmd.com/read/29444910/the-neuroendocrine-phenotype-genomic-profile-and-therapeutic-sensitivity-of-gepnet-cell-lines
#14
Tobias Hofving, Yvonne Arvidsson, Bilal Almobarak, Linda Inge, Roswitha Pfragner, Marta Persson, Göran Stenman, Erik Kristiansson, Viktor Johanson, Ola Nilsson
Experimental models of neuroendocrine tumour disease are scarce, and no comprehensive characterisation of existing gastroenteropancreatic neuroendocrine tumour (GEPNET) cell lines has been reported. In this study, we aimed to define the molecular characteristics and therapeutic sensitivity of these cell lines. We therefore performed immunophenotyping, copy number profiling, whole-exome sequencing and a large-scale inhibitor screening of seven GEPNET cell lines. Four cell lines, GOT1, P-STS, BON-1 and QGP-1, displayed a neuroendocrine phenotype while three others, KRJ-I, L-STS and H-STS, did not...
March 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29421330/genomic-loci-modulating-retinal-ganglion-cell-death-following-elevated-iop-in-the-mouse
#15
Felix L Struebing, Rebecca King, Ying Li, Jessica N Cooke Bailey, Janey L Wiggs, Eldon E Geisert
The present study was designed to identify genomic loci modulating the susceptibility of retinal ganglion cells (RGC) to elevated intraocular pressure (IOP) in the BXD recombinant inbred mouse strain set. IOP was elevated by injecting magnetic microspheres into the anterior chamber and blocking the trabecular meshwork using a handheld magnet to impede drainage. The IOP was then measured over the next 21 days. Only animals with IOP greater than 25 mmHg for two consecutive days or an IOP above 30 mmHg on a single day after microsphere-injection were used in this study...
January 31, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29420190/genome-wide-association-and-genomic-selection-for-resistance-to-amoebic-gill-disease-in-atlantic-salmon
#16
Diego Robledo, Oswald Matika, Alastair Hamilton, Ross D Houston
Amoebic gill disease (AGD) is one of the largest threats to salmon aquaculture, causing serious economic and animal welfare burden. Treatments can be expensive and environmentally damaging, hence the need for alternative strategies. Breeding for disease resistance can contribute to prevention and control of AGD, providing long-term cumulative benefits in selected stocks. The use of genomic selection can expedite selection for disease resistance due to improved accuracy compared to pedigree-based approaches...
February 2, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29408376/hictmap-detection-and-analysis-of-chromosome-territory-structure-and-position-by-high-throughput-imaging
#17
Ziad Jowhar, Prabhakar Gudla, Sigal Shachar, Darawalee Wangsa, Jill L Russ, Gianluca Pegoraro, Thomas Ried, Armin Raznahan, Tom Misteli
The spatial organization of chromosomes in the nuclear space is an extensively studied field that relies on measurements of structural features and 3D positions of chromosomes with high precision and robustness. However, no tools are currently available to image and analyze chromosome territories in a high-throughput format. Here, we have developed High-throughput Chromosome Territory Mapping (HiCTMap), a method for the robust and rapid analysis of 2D and 3D chromosome territory positioning in mammalian cells...
February 2, 2018: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/29395391/a-crybb2-mutation-in-a-taiwanese-family-with-autosomal-dominant-cataract
#18
Yung-Hao Ching, Jih-I Yeh, Wen-Lang Fan, Ko-Chen Chen, Man-Chieh Yeh, Peng Yeong Woon, Yuan-Chieh Lee
BACKGROUND/PURPOSE: To identify the underlying genetic cause of a Taiwanese family with autosomal dominant cerulean cataract. METHODS: A three-generation cerulean cataract family with 13 affected and 13 normal was identified. Whole exome sequencing, whole genome single nucleotide polymorphism genotyping and haplotype analysis, and fine mapping using polymorphic short tandem repeat markers were used to identify the causative gene mutation. RESULTS: Whole genome single nucleotide polymorphism genotyping and haplotype analysis mapped the candidate disease loci to chromosome 18 and chromosome 22...
January 27, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29378514/integrated-ovarian-mrna-and-mirna-transcriptome-profiling-characterizes-the-genetic-basis-of-prolificacy-traits-in-sheep-ovis-aries
#19
Kisun Pokharel, Jaana Peippo, Mervi Honkatukia, Arja Seppälä, Johanna Rautiainen, Nasser Ghanem, Tuula-Marjatta Hamama, Mark A Crowe, Magnus Andersson, Meng-Hua Li, Juha Kantanen
BACKGROUND: The highly prolific breeds of domestic sheep (Ovis aries) are globally valuable genetic resources for sheep industry. Genetic, nutritional and other environmental factors affect prolificacy traits in sheep. To improve our knowledge of the sheep prolificacy traits, we conducted mRNA-miRNA integrated profiling of ovarian tissues from two pure breeds with large (Finnsheep) vs. small (Texel) litter sizes and their F1 crosses, half of which were fed a flushing diet. RESULTS: Among the samples, 16,402 genes (60...
January 29, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29375670/chromothripsis-18-in-multiple-myeloma-patient-with-rapid-extramedullary-relapse
#20
Jan Smetana, Jan Oppelt, Martin Štork, Luděk Pour, Petr Kuglík
Background: Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation: In our case, we report a 62 year female patient with rapid progression of multiple myeloma (MM) into extramedullary disease and short overall survival (OS = 23 months)...
2018: Molecular Cytogenetics
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