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Clinical molecular genetics

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https://www.readbyqxmd.com/read/29351094/clinical-and-molecular-characterization-of-nine-chinese-patients-affected-by-hypofibrinogenemia-or-dysfibrinogenemia
#1
Yingyu Wang, Wenbai Chen, Ping Ma, Liqing Zhu, Mingshan Wang
: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Three fibrinogen genes were amplified by PCR and screened for variants. The identified variants were analyzed by bioinformatics prediction and molecular modeling analysis...
January 17, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29349879/a-novel-pklr-gene-mutation-identified-using-advanced-molecular-techniques
#2
Yunyan He, Jianming Luo, Yonghong Lei, Siyuan Jia, Ning Liao
This study's purposes were to diagnose intractable hemolytic anemia and to provide guiding treatment for the affected family members. We performed NGS in a panel of 600 genes for blood diseases on a patient with obscure hemolytic anemia and her parents. We confirmed the diagnosis of pyruvate kinase deficiency, identified a novel homozygous mutation of the PKLR gene (NM_000298: exon 6: c.T941C: p.I314T), and ruled out other blood diseases in the Chinese family. Furthermore, amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of PKLR gene mutation...
January 18, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29348905/bridging-the-divide-preclinical-research-discrepancies-between-triple-negative-breast-cancer-cell-lines-and-patient-tumors
#3
REVIEW
Andrew Sulaiman, Lisheng Wang
Triple-negative breast cancer (TNBC) is the most refractory subtype of breast cancer and disproportionately accounts for the majority of breast cancer related deaths. Effective treatment of this disease remains an unmet medical need. Over the past several decades, TNBC cell lines have been used as the foundation for drug development and disease modeling. However, ever-mounting research demonstrates striking differences between cell lines and clinical TNBC tumors, disconnecting bench research and actual clinical responses...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348883/spatial-habitats-from-multiparametric-mr-imaging-are-associated-with-signaling-pathway-activities-and-survival-in-glioblastoma
#4
Katherine Dextraze, Abhijoy Saha, Donnie Kim, Shivali Narang, Michael Lehrer, Anita Rao, Saphal Narang, Dinesh Rao, Salmaan Ahmed, Venkatesh Madhugiri, Clifton David Fuller, Michelle M Kim, Sunil Krishnan, Ganesh Rao, Arvind Rao
Glioblastoma (GBM) show significant inter- and intra-tumoral heterogeneity, impacting response to treatment and overall survival time of 12-15 months. To study glioblastoma phenotypic heterogeneity, multi-parametric magnetic resonance images (MRI) of 85 glioblastoma patients from The Cancer Genome Atlas were analyzed to characterize tumor-derived spatial habitats for their relationship with outcome (overall survival) and to identify their molecular correlates (i.e., determine associated tumor signaling pathways correlated with imaging-derived habitat measurements)...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348084/molecular-characterization-of-autosomal-recessive-non-syndromic-hearing-loss-in-selected-families-from-district-mardan-pakistan
#5
Shahid Hussain, Jabar Zaman Khattak, Mohammad Ismail, Qaisar Mansoor, Mohammad Haroon Khan
Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. We included 10 families with history of deafness from district Mardan, Pakistan. Blood sample (5ml) along with personal and clinical information was collected from the available family members including both diseased and un-affected individuals...
January 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29346217/pathological-and-molecular-aspects-to-improve-endoscopic-ultrasonography-guided-fine-needle-aspiration-from-solid-pancreatic-lesions
#6
Hiroyuki Matsubayashi, Keiko Sasaki, Sachiyo Ono, Masato Abe, Hirotoshi Ishiwatari, Akira Fukutomi, Katsuhiko Uesaka, Hiroyuki Ono
Endoscopic ultrasonography-guided fine-needle aspiration (EUS-FNA) has been applied to pancreatic lesions since the 1990s, and its use is now widespread. Improvements in endoscopic devices and sampling techniques have resulted in excellent diagnostic ability for solid pancreatic lesions. However, clinical improvements alone are not responsible for it; pathological aspects have also played important roles. Rapid on-site evaluation minimizes endoscopic procedures, although its value at improving the diagnostic ratio is still debated...
February 2018: Pancreas
https://www.readbyqxmd.com/read/29345728/analytical-performance-of-the-thyroseq-v3-genomic-classifier-for-cancer-diagnosis-in-thyroid-nodules
#7
Marina N Nikiforova, Stephanie Mercurio, Abigail I Wald, Michelle Barbi de Moura, Keith Callenberg, Lucas Santana-Santos, William E Gooding, Linwah Yip, Robert L Ferris, Yuri E Nikiforov
BACKGROUND: Molecular tests have clinical utility for thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology, although their performance requires further improvement. This study evaluated the analytical performance of the newly created ThyroSeq v3 test. METHODS: ThyroSeq v3 is a DNA- and RNA-based next-generation sequencing assay that analyzes 112 genes for a variety of genetic alterations, including point mutations, insertions/deletions, gene fusions, copy number alterations, and abnormal gene expression, and it uses a genomic classifier (GC) to separate malignant lesions from benign lesions...
January 18, 2018: Cancer
https://www.readbyqxmd.com/read/29345414/molecular-characterization-of-a-series-of-990-index-patients-with-albinism
#8
E Lasseaux, C Plaisant, V Michaud, P Pennamen, A Trimouille, L Gaston, S Monfermé, D Lacombe, C Rooryck, F Morice-Picard, B Arveiler
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. In order to obtain a precise diagnosis we screened the 19 known albinism genes in 990 index patients using targeted next generation sequencing (NGS) and high resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72...
January 18, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29344504/new-findings-on-the-pathogenesis-of-distal-renal-tubular-acidosis
#9
REVIEW
Francesco Trepiccione, Federica Prosperi, Luigi Regenburgh de la Motte, Christian A Hübner, Regine Chambrey, Dominique Eladari, Giovambattista Capasso
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either SLC4A1, encoding the AE1 anion exchanger, or ATP6V1B1 and ATP6V0A4, encoding for the B1 and a4 subunits of the vH+ATPase, respectively. These genes are crucial for the function of A-type intercalated cells (A-IC) of the distal nephron...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29344342/frontotemporal-dementia-latest-evidence-and-clinical-implications
#10
REVIEW
Juan Joseph Young, Mallika Lavakumar, Deena Tampi, Silpa Balachandran, Rajesh R Tampi
Background: Frontotemporal dementia (FTD) describes a cluster of neurocognitive syndromes that present with impairment of executive functioning, changes in behavior, and a decrease in language proficiency. FTD is the second most common form of dementia in those younger than 65 years and is expected to increase in prevalence as the population ages. This goal in our review is to describe advances in the understanding of neurobiological pathology, classification, assessment, and treatment of FTD syndromes...
January 2018: Therapeutic Advances in Psychopharmacology
https://www.readbyqxmd.com/read/29343803/targeted-next-generation-sequencing-in-a-young-population-with-suspected-inherited-malignant-cardiac-arrhythmias
#11
Anders Krogh Broendberg, Morten Krogh Christiansen, Jens Cosedis Nielsen, Lisbeth Noerum Pedersen, Henrik Kjaerulf Jensen
Aborted sudden cardiac death in the young often is due to inherited heart disease. However, the clinical phenotype in these patients is not always evident. The aim of this study was to identify pathogenic molecular genetic variants in a population with suspected inherited cardiac arrhythmias. Eligible patients were admitted to Aarhus University Hospital, Denmark during the period 1999-2013 with arrhythmias assumed caused by a hereditary heart disease, and in whom no genotype had been established. We used the Danish national pacemaker and ICD registry to identify this cohort...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343526/mutations-in-cyb561-causing-a-novel-orthostatic-hypotension-syndrome
#12
Maarten P van den Berg, Rowida Almomani, Italo Biaggioni, Martijn van Faassen, Pim van der Harst, Herman H Silljé, Irene Mateo Leach, Marc Hemmelder, Gerjan Navis, Gert-Jan Luijckx, Arjan P de Brouwer, Hanka Venselaar, Marcel M Verbeek, Paul A van der Zwaag, Jan D Jongbloed, J P van Tintelen, Ron A Wevers, Ido P Kema
Rationale: Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been fully delineated. Objective: We describe two families, with four patients in total, suffering from severe life-threatening orthostatic hypotension due to a novel cause. Methods and Results: As in dopamine β-hydroxylase deficiency (DβH), concentrations of norepinephrine and epinephrine in the patients were very low. Plasma DβH activity, however, was normal and the DBH gene had no mutations. Molecular genetic analysis was performed to determine the underlying genetic cause...
January 17, 2018: Circulation Research
https://www.readbyqxmd.com/read/29343273/inpp4b-promotes-cell-survival-via-sgk3-activation-in-npm1-mutated-leukemia
#13
Hongjun Jin, Liyuan Yang, Lu Wang, Zailin Yang, Qian Zhan, Yao Tao, Qin Zou, Yuting Tang, Jingrong Xian, Shuaishuai Zhang, Yipei Jing, Ling Zhang
BACKGROUND: Acute myeloid leukemia (AML) with mutated nucleophosmin (NPM1) has been recognized as a distinct leukemia entity in the 2016 World Health Organization (WHO) classification. The genetic events underlying oncogenesis in NPM1-mutated AML that is characterized by a normal karyotype remain unclear. Inositol polyphosphate 4-phosphatase type II (INPP4B), a new factor in the phosphoinositide-3 kinase (PI3K) pathway-associated cancers, has been recently found a clinically relevant role in AML...
January 17, 2018: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/29343260/liquid-biomarkers-in-melanoma-detection-and-discovery
#14
REVIEW
Su Yin Lim, Jenny H Lee, Russell J Diefenbach, Richard F Kefford, Helen Rizos
A vast array of tumor-derived genetic, proteomic and cellular components are constantly released into the circulation of cancer patients. These molecules including circulating tumor DNA and RNA, proteins, tumor and immune cells are emerging as convenient and accurate liquid biomarkers of cancer. Circulating cancer biomarkers provide invaluable information on cancer detection and diagnosis, prognosticate patient outcomes, and predict treatment response. In this era of effective molecular targeted treatments and immunotherapies, there is now an urgent need to implement use of these circulating biomarkers in the clinic to facilitate personalized therapy...
January 17, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29341452/contribution-of-mlh1-constitutional-methylation-for-lynch-syndrome-diagnosis-in-patients-with-tumor-mlh1-downregulation
#15
Diana Pinto, Carla Pinto, Joana Guerra, Manuela Pinheiro, Rui Santos, Hege Marie Vedeld, Zeremariam Yohannes, Ana Peixoto, Catarina Santos, Pedro Pinto, Paula Lopes, Ragnhild Lothe, Guro Elisabeth Lind, Rui Henrique, Manuel R Teixeira
Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p...
January 17, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#16
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29340252/positive-selection-on-human-gamete-recognition-genes
#17
Michael W Hart, Daryn A Stover, Vanessa Guerra, Sahar V Mozaffari, Carole Ober, Carina F Mugal, Ingemar Kaj
Coevolution of genes that encode interacting proteins expressed on the surfaces of sperm and eggs can lead to variation in reproductive compatibility between mates and reproductive isolation between members of different species. Previous studies in mice and other mammals have focused in particular on evidence for positive or diversifying selection that shapes the evolution of genes that encode sperm-binding proteins expressed in the egg coat or zona pellucida (ZP). By fitting phylogenetic models of codon evolution to data from the 1000 Genomes Project, we identified candidate sites evolving under diversifying selection in the human genes ZP3 and ZP2...
2018: PeerJ
https://www.readbyqxmd.com/read/29340131/acute-myeloid-leukemia-genetic-alterations-and-their-clinical-prognosis
#18
REVIEW
Francisco Alejandro Lagunas-Rangel, Venice Chávez-Valencia, Miguel Ángel Gómez-Guijosa, Carlos Cortes-Penagos
Acute myeloid leukemia (AML) is a group of hematological diseases, phenotypic and genetically heterogeneous, characterized by abnormal accumulation of blast cells in the bone marrows and peripheral blood. Its incidence rate is approximately 1.5 per 100,000 in infants younger than 1 year of age and 25 per 100,000 persons in octogenarians. Traditionally, cytogenetic markers are used to stratify patients in three risk categories: favorable, intermediate and unfavorable. However, the forecast stratification and the treatment decision for patients with normal karyotype shows difficulties due to the high clinical heterogeneity...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29340109/development-of-a-targeted-sequencing-approach-to-identify-prognostic-predictive-and-diagnostic-markers-in-paediatric-solid-tumours
#19
Elisa Izquierdo, Lina Yuan, Sally George, Michael Hubank, Chris Jones, Paula Proszek, Janet Shipley, Susanne A Gatz, Caedyn Stinson, Andrew S Moore, Steven C Clifford, Debbie Hicks, Janet C Lindsey, Rebecca M Hill, Thomas S Jacques, Jane Chalker, Khin Thway, Simon O'Connor, Lynley Marshall, Lucas Moreno, Andrew Pearson, Louis Chesler, Brian A Walker, David Gonzalez De Castro
The implementation of personalised medicine in childhood cancers has been limited by a lack of clinically validated multi-target sequencing approaches specific for paediatric solid tumours. In order to support innovative clinical trials in high-risk patients with unmet need, we have developed a clinically relevant targeted sequencing panel spanning 311 kb and comprising 78 genes involved in childhood cancers. A total of 132 samples were used for the validation of the panel, including Horizon Discovery cell blends (n=4), cell lines (n=15), formalin-fixed paraffin embedded (FFPE, n=83) and fresh frozen tissue (FF, n=30) patient samples...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#20
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
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