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Clinical molecular genetics

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https://www.readbyqxmd.com/read/29161613/molecular-characterization-of-urothelial-carcinoma-of-the-bladder-and-upper-urinary-tract
#1
Ji Yun Lee, Kyung Kim, Hyun Hwan Sung, Hwang Gyun Jeon, Byong Chang Jeong, Seong Il Seo, Seong Soo Jeon, Hyun Moo Lee, Han-Yong Choi, Ghee-Young Kwon, Kyoung-Mee Kim, Jeeyun Lee, Ho Yeong Lim, Se Hoon Park
PURPOSE: A better understanding of the molecular basis of urothelial carcinoma (UC) is needed to refine the clinical decision-making process. METHODS AND MATERIALS: We performed next-generation sequencing to investigate the mutational and transcriptional profiles of commonly mutated genes in UC using Ampliseq v2. Copy number variations (CNVs) were detected with nCounter assay. Genetic alterations between upper tract UC (UTUC) and urinary bladder UC (UBUC) were compared...
November 18, 2017: Translational Oncology
https://www.readbyqxmd.com/read/29161398/role-of-gabaa-receptor-subtypes-in-the-behavioural-effects-of-intravenous-general-anaesthetics
#2
C J Weir, S J Mitchell, J J Lambert
Since the introduction of general anaesthetics into clinical practice, researchers have been mystified as to how these chemically disparate drugs act to produce their dramatic effects on central nervous system function and behaviour. Scientific advances, particularly during the last 25 years, have now begun to reveal the molecular mechanisms underpinning their behavioural effects. For certain i.v. general anaesthetics, such as etomidate and propofol, a persuasive case can now be made that the GABAA receptor, a major inhibitory receptor in the mammalian central nervous system, is an important target...
December 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/29159939/marked-yield-of-re-evaluating-phenotype-and-exome-target-sequencing-data-in-33-individuals-with-intellectual-disabilities
#3
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis. Therefore, in addition to the normal data analysis, in this study, re-evaluation was performed prior to manuscript preparation after updating OMIM annotations, calling copy number variations (CNVs) and reviewing the current literature...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#4
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29159460/compound-heterozygous-inheritance-of-mutations-in-coenzyme-q8a-results-in-autosomal-recessive-cerebellar-ataxia-and-coenzyme-q10-deficiency-in-a-female-sib-pair
#5
Jessie C Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R Love, Rosamund Hill, Sarah Molyneux, Peter M George, Richard Mackay, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159201/interactions-between-retroviruses-and-the-host-cell-genome
#6
REVIEW
Valentina Poletti, Fulvio Mavilio
Replication-defective retroviral vectors have been used for more than 25 years as a tool for efficient and stable insertion of therapeutic transgenes in human cells. Patients suffering from severe genetic diseases have been successfully treated by transplantation of autologous hematopoietic stem-progenitor cells (HSPCs) transduced with retroviral vectors, and the first of this class of therapies, Strimvelis, has recently received market authorization in Europe. Some clinical trials, however, resulted in severe adverse events caused by vector-induced proto-oncogene activation, which showed that retroviral vectors may retain a genotoxic potential associated to proviral integration in the human genome...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29158793/long-non-coding-rnas-in-colorectal-cancer-progression-and-future-directions
#7
Yongzhi Yang, Peng Junjie, Cai Sanjun, Yanlei Ma
Identification of the colorectal adenoma-carcinoma sequence with its corresponding genetic and epigenetic alterations has significantly increased our knowledge of the etiopathogenesis of colorectal cancer (CRC). However, the molecular mechanisms of colorectal carcinogenesis and metastasis haven't been clearly elucidated. Long non-coding ribonucleic acids (lncRNAs) are key participants of gene regulations rather than "noises". Accumulative studies have implicated that the aberrant expressions of lncRNAs are tightly corelated to CRC screening, diagnosis, prognosis and therapeutic outcomes...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29158767/screening-of-shox-gene-sequence-variants-in-saudi-arabian-children-with-idiopathic-short-stature
#8
Abdulla A Alharthi, Ehab I El-Hallous, Iman M Talaat, Hamed A Alghamdi, Matar I Almalki, Ahmed Gaber
Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations...
October 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29158581/improved-ethical-guidance-for-the-return-of-results-from-psychiatric-genomics-research
#9
G Lázaro-Muñoz, M S Farrell, J J Crowley, D M Filmyer, R A Shaughnessy, R C Josiassen, P F Sullivan
There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158289/next-generation-panel-sequencing-identifies-nf1-germline-mutations-in-three-patients-with-pheochromocytoma-but-no-clinical-diagnosis-of-neurofibromatosis-type-1
#10
Laura Gieldon, Jimmy Rusdian Masjkur, Susan Richter, Roland Därr, Marcos Lahera, Daniela E Aust, Silke Zeugner, Andreas Rump, Karl Hackmann, Andreas Tzschach, Andrzej Januszewicz, Aleksander Prejbisz, Graeme Eisenhofer, Evelin Schroeck, Mercedes Robledo, Barbara Klink
Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next generation sequencing (NGS) multi-gene panel analysis. Derived from this study we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of Neurofibromatosis Type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients...
November 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29157973/when-the-good-go-bad-mutant-npm1-in-acute-myeloid-leukemia
#11
REVIEW
Preethi Kunchala, Sudhakiranmayi Kuravi, Roy Jensen, Joseph McGuirk, Ramesh Balusu
Nucleophosmin 1 (NPM1) is a nucleolar phosphoprotein that performs diverse biological functions including molecular chaperoning, ribosome biogenesis, DNA repair, and genome stability. Acute myeloid leukemia (AML) is a heterogeneous disease, more than half of the AML cases exhibit normal karyotype (NK). Approximately 50-60 percent of patients with NK-AML carry NPM1 mutations which are characterized by cytoplasmic dislocation of the NPM1 protein. In AML, mutant NPM1 (NPM1c+) acts in a dominant negative fashion and also blocks the differentiation of myeloid cells through gain-of-function for the AML phenotype...
November 4, 2017: Blood Reviews
https://www.readbyqxmd.com/read/29157184/co-inheritance-of-hbb-c-106g%C3%A2-%C3%A2-c-a-rare-single-nucleotide-variation-at-position-56-relative-to-transcription-initiation-site-with-other-known-mutations-in-the-globin-clusters
#12
Margherita Vinciguerra, Cristina Passarello, Filippo Cassarà, Filippo Leto, Monica Cannata, Elisa Ferro, Davide Anzà, Giuseppina Calvaruso, Aurelio Maggio, Antonino Giambona
Objectives We performed molecular analysis to evaluate clinical implications of a rare nucleotide change, particularly when co-inherited with other known mutations in the globin clusters, in order to conduct an appropriate genetic counselling. Methods Complete blood cell counts and high-performance liquid chromatography were the routine first level analysis for patients referred to our Hospital Center in Palermo to undergo the screening test for haemoglobinopathies. Sequencing analysis was the selected method for the phenotypic characterization, especially in case of new or very rare mutations in globin genes...
November 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29156832/associations-of-high-altitude-polycythemia-with-polymorphisms-in-epas1-itga6-and-erbb4-in-chinese-han-and-tibetan-populations
#13
Yiduo Zhao, Zhiying Zhang, Lijun Liu, Yao Zhang, Xiaowei Fan, Lifeng Ma, Jing Li, Yuan Zhang, Haijin He, Longli Kang
High altitude polycythemia (HAPC) is a common chronic disease at high altitude, which is characterized by excessive erythrocytosis (females, hemoglobin ≥ 190 g/L; males, hemoglobin ≥ 210 g/L). It is the most common disease in chronic mountain sickness casued primarily by persistent arterial hypoxia and ventilatory impairment. However, the disease is still unmanageable and related molecular mechanisms remain largely unclear. This study aims to explore the genetic basis of HAPC in the Chinese Han and Tibetan populations...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156643/melanoma-genetic-abnormalities-tumor-progression-clonal-evolution-and-tumor-initiating-cells
#14
REVIEW
Ugo Testa, Germana Castelli, Elvira Pelosi
Melanoma is an aggressive neoplasia issued from the malignant transformation of melanocytes, the pigment-generating cells of the skin. It is responsible for about 75% of deaths due to skin cancers. Melanoma is a phenotypically and molecularly heterogeneous disease: cutaneous, uveal, acral, and mucosal melanomas have different clinical courses, are associated with different mutational profiles, and possess distinct risk factors. The discovery of the molecular abnormalities underlying melanomas has led to the promising improvement of therapy, and further progress is expected in the near future...
November 20, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29156578/pancreatic-cancer-molecular-characterization-clonal-evolution-and-cancer-stem-cells
#15
REVIEW
Elvira Pelosi, Germana Castelli, Ugo Testa
Pancreatic Ductal Adenocarcinoma (PDAC) is the fourth most common cause of cancer-related death and is the most lethal of common malignancies with a five-year survival rate of <10%. PDAC arises from different types of non-invasive precursor lesions: intraductal papillary mucinous neoplasms, mucinous cystic neoplasms and pancreatic intraepithelial neoplasia. The genetic landscape of PDAC is characterized by the presence of four frequently-mutated genes: KRAS, CDKN2A, TP53 and SMAD4. The development of mouse models of PDAC has greatly contributed to the understanding of the molecular and cellular mechanisms through which driver genes contribute to pancreatic cancer development...
November 18, 2017: Biomedicines
https://www.readbyqxmd.com/read/29156447/pd-1-blockade-in-advanced-nsclc-a-focus-on-pembrolizumab
#16
REVIEW
Solange Peters, Keith M Kerr, Rolf Stahel
Non-small cell lung cancer (NSCLC) is one of the most prevalent cancers and is responsible for a large proportion of all cancer-related deaths. Current treatment options are inadequate, reflecting a substantial unmet clinical need. Increasing knowledge regarding the mechanisms and genetic aberrations underlying tumor development and growth has heralded a new era of therapy in oncology, moving away from indiscriminate cytotoxic chemotherapy toward more finely focused, targeted medicine. The development of small-molecule drugs and monoclonal antibodies directed toward specific components of dysfunctional molecular or immune pathways, and mutated genes specific to particular cancer types, is leading the field to more personalized and less toxic treatment options, many of which have demonstrated greater efficacy and survival benefits than their chemotherapeutic counterparts...
October 23, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29156198/the-evolving-role-of-genomic-testing-in-assessing-prognosis-of-patients-with-myelodysplastic-syndromes
#17
REVIEW
David P Steensma
The introduction into routine hematology-oncology clinical practice of molecular genetic testing assays based on next-generation sequencing platforms is prompting reassessment of the importance of molecular assay results in comparison to existing disease-specific risk stratification tools based on clinical assessment and light microscopy. For patients with myelodysplastic syndromes (MDS), the most commonly used tools for prognostication currently include the International Prognostic Scoring System (IPSS) and the Revised IPSS (IPSS-R), which are based on marrow blast proportion, number and degree of cytopenias, and the metaphase karyotype...
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#18
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155125/virulence-characteristics-and-molecular-relatedness-of-methicillin-resistant-staphylococcus-aureus-harboring-different-staphylococcal-cassette-chromosome-mec
#19
Rana El-Baz, Dina E Rizk, Rasha Barwa, Ramadan Hassan
INTRODUCTION: Methicillin resistant Staphylococcus aureus (MRSA) is a versatile pathogen capable of causing multitude of human diseases. It is one of the most important nosocomial pathogen that implicated in community and healthcare associated infections. Therefore, this study aims to characterize different SCCmec elements found in MRSA isolates. Moreover, molecular typing were performed to investigate the genetic relatedness among MRSA isolates. METHODS: Phenotypic identification of MRSA was done by disc diffusion method...
November 15, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29155103/rasgrp1-mutation-in-autoimmune-lymphoproliferative-syndrome-like-disease
#20
Huawei Mao, Wanling Yang, Sylvain Latour, Jing Yang, Sarah Winter, Jian Zheng, Ke Ni, Minmin Lv, Chenjing Liu, Hongmei Huang, Koon-Wing Chan, Pamela Pui-Wah Lee, Wenwei Tu, Alain Fischer, Yu-Lung Lau
BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to impaired apoptosis. It was initially regarded as a very rare disease, but recent studies show it may be more common than previously thought. Defects in a couple of genes have been identified in a proportion of ALPS patients, but around one third of such patients remain undefined genetically. OBJECTIVE: We described two siblings presenting with ALPS-like disease...
November 15, 2017: Journal of Allergy and Clinical Immunology
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