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https://www.readbyqxmd.com/read/29912021/update-on-the-genetics-of-nonbacterial-osteomyelitis-in-humans
#1
Allison J Cox, Polly J Ferguson
PURPOSE OF REVIEW: To summarize the current advances in our understanding or the genetic basis of nonbacterial osteomyelitis. RECENT FINDINGS: Chronic recurrent multifocal osteomyelitis (CRMO) is a complex genetic disorder. Past discoveries identified several single gene defects (LPIN2, Pstpip2 and IL1RN) that cause IL-1-mediated sterile multifocal osteomyelitis. Recently Lorden et al.'s studies show that LIPIN2 deficiency can activate the NLRP3 inflammasome through alterations in the function of P2X7 receptor providing evidence that Majeed syndrome is an NLRP3 inflammasomopathy...
June 13, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29873853/synovial-sarcoma-masquerading-as-medullary-thyroid-carcinoma
#2
Diksha Yadav, Shipra Agarwal, Arundhati Sharma, Ekta Malik, Devasenathipathy Kandasamy, Alok Thakar, Rajni Yadav, Adarsh Barward, Lata Kini
Synovial sarcoma (SS) is a high-grade soft tissue sarcoma, characterized by t(X;18)(p11;q11), resulting in fusion of genes SYT on chromosome 18 and SSX 1 or SSX2 or SSX 4 on chromosome X.1 SS commonly involves extremities (83%).1 Head and neck involvement is rare, constituting only 2.5-3.5% of all sarcomas in this region.2 This article is protected by copyright. All rights reserved.
June 6, 2018: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/29843606/landscape-of-copy-number-variations-in-bos-taurus-individual-and-inter-breed-variability
#3
M Mielczarek, M Frąszczak, E Nicolazzi, J L Williams, J Szyda
BACKGROUND: The number of studies of Copy Number Variation in cattle has increased in recent years. This has been prompted by the increased availability of data on polymorphisms and their relationship with phenotypes. In addition, livestock species are good models for some human phenotypes. In the present study, we described the landscape of CNV driven genetic variation in a large population of 146 individuals representing 13 cattle breeds, using whole genome DNA sequence. RESULTS: A highly significant variation among all individuals and within each breed was observed in the number of duplications (P < 10-15 ) and in the number of deletions (P < 10-15 )...
May 29, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29767679/recurrent-cytogenetic-abnormalities-in-intravascular-large-b-cell-lymphoma
#4
Matthew M Klairmont, Jinjun Cheng, Mike G Martin, Joel F Gradowski
Objectives: Data characterizing the cytogenetic landscape of intravascular large B-cell lymphoma (ILBCL) are limited. Here, we developed a comprehensive karyotypic data set to identify recurrent cytogenetic abnormalities in ILBCL. Methods: Cases of ILBCL with complete cytogenetic analysis were identified from an institutional database and the literature. The combined data were systematically reviewed for the presence of recurrent abnormalities. Results: Four new cases were identified and combined with 25 karyotypes previously published in the literature...
May 14, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29733232/genetic-mapping-and-a-new-pcr-based-marker-linked-to-a-dwarfing-gene-in-oat-avena-sativa-l
#5
Jun Zhao, Xueqin Tang, Charlene P Wight, Nicholas A Tinker, Yunfeng Jiang, Honghai Yan, Jian Ma, Xiu-Jin Lan, Yu-Ming Wei, Changzhong Ren, Guoyue Chen, Yuanying Peng
Short straw is a desired trait in cultivated hexaploid oat (Avena sativa L.) for some production environments. Marker-assisted selection, a key tool for achieving this objective, is limited by a lack of mapping data and available markers. Here, bulked-segregant analysis was used to identify PCR-based markers associated with a dwarfing gene. Genetic analysis identified a monogenic dominant inheritance of one dwarfing gene from WAOAT2132, temporarily designated DwWA. A simple sequence repeat (SSR) marker (AME117) that was already available and a new codominant PCR-based marker (bi17) developed by homologous cloning in the present study were both associated with the dwarfing gene...
May 7, 2018: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/29695628/an-atypical-n-ethylmaleimide-sensitive-factor-enables-the-viability-of-nematode-resistant-rhg1-soybeans
#6
Adam M Bayless, Ryan W Zapotocny, Derrick J Grunwald, Kaela K Amundson, Brian W Diers, Andrew F Bent
N-ethylmaleimide sensitive factor (NSF) and α-soluble NSF attachment protein (α-SNAP) are essential eukaryotic housekeeping proteins that cooperatively function to sustain vesicular trafficking. The "resistance to Heterodera glycines 1" ( Rhg1 ) locus of soybean ( Glycine max ) confers resistance to soybean cyst nematode, a highly damaging soybean pest. Rhg1 loci encode repeat copies of atypical α-SNAP proteins that are defective in promoting NSF function and are cytotoxic in certain contexts. Here, we discovered an unusual NSF allele ( Rhg1 -associated NSF on chromosome 07; NSF RAN07 ) in Rhg1 + germplasm...
May 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29684168/emerin-modulates-spatial-organization-of-chromosome-territories-in-cells-on-softer-matrices
#7
Roopali Pradhan, Devika Ranade, Kundan Sengupta
Cells perceive and relay external mechanical forces into the nucleus through the nuclear envelope. Here we examined the effect of lowering substrate stiffness as a paradigm to address the impact of altered mechanical forces on nuclear structure-function relationships. RNA sequencing of cells on softer matrices revealed significant transcriptional imbalances, predominantly in chromatin associated processes and transcriptional deregulation of human Chromosome 1. Furthermore, 3-Dimensional fluorescence in situ hybridization (3D-FISH) analyses showed a significant mislocalization of Chromosome 1 and 19 Territories (CT) into the nuclear interior, consistent with their transcriptional deregulation...
April 19, 2018: Nucleic Acids Research
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
#8
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
#9
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
#10
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
#11
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
#12
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-genomically-aberrant-at-rt-and-her-mother-with-anaplastic-astrocytoma
#13
Kristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, Joonas Tuominen, Matti Annala, Sergei Häyrynen, Ritva Karhu, Pauli Helén, Olli Lohi, Matti Nykter, Hannu Haapasalo, Kirsi J 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...
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29563141/monosomy-18p-is-a-risk-factor-for-facioscapulohumeral-dystrophy
#14
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
#15
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...
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
#16
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
#17
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
#18
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
#19
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
#20
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
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