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https://www.readbyqxmd.com/read/29674644/aggressive-natural-killer-cell-leukemia-mutational-landscape-and-drug-profiling-highlight-jak-stat-signaling-as-therapeutic-target
#1
Olli Dufva, Matti Kankainen, Tiina Kelkka, Nodoka Sekiguchi, Shady Adnan Awad, Samuli Eldfors, Bhagwan Yadav, Heikki Kuusanmäki, Disha Malani, Emma I Andersson, Paavo Pietarinen, Leena Saikko, Panu E Kovanen, Teija Ojala, Dean A Lee, Thomas P Loughran, Hideyuki Nakazawa, Junji Suzumiya, Ritsuro Suzuki, Young Hyeh Ko, Won Seog Kim, Shih-Sung Chuang, Tero Aittokallio, Wing C Chan, Koichi Ohshima, Fumihiro Ishida, Satu Mustjoki
Aggressive natural killer-cell (NK-cell) leukemia (ANKL) is an extremely aggressive malignancy with dismal prognosis and lack of targeted therapies. Here, we elucidate the molecular pathogenesis of ANKL using a combination of genomic and drug sensitivity profiling. We study 14 ANKL patients using whole-exome sequencing (WES) and identify mutations in STAT3 (21%) and RAS-MAPK pathway genes (21%) as well as in DDX3X (29%) and epigenetic modifiers (50%). Additional alterations include JAK-STAT copy gains and tyrosine phosphatase mutations, which we show recurrent also in extranodal NK/T-cell lymphoma, nasal type (NKTCL) through integration of public genomic data...
April 19, 2018: Nature Communications
https://www.readbyqxmd.com/read/29671115/utility-of-dna-rna-protein-and-functional-approaches-to-solve-cryptic-immunodeficiencies
#2
Margot A Cousin, Matthew J Smith, Ashley N Sigafoos, Jay J Jin, Marine I Murphree, Nicole J Boczek, Patrick R Blackburn, Gavin R Oliver, Ross A Aleff, Karl J Clark, Eric D Wieben, Avni Y Joshi, Pavel N Pichurin, Roshini S Abraham, Eric W Klee
PURPOSE: We report a female infant identified by newborn screening for severe combined immunodeficiencies (NBS SCID) with T cell lymphopenia (TCL). The patient had persistently elevated alpha-fetoprotein (AFP) with IgA deficiency, and elevated IgM. Gene sequencing for a SCID panel was uninformative. We sought to determine the cause of the immunodeficiency in this infant. METHODS: We performed whole-exome sequencing (WES) on the patient and parents to identify a genetic diagnosis...
April 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29669943/whole-exome-sequencing-uncovers-oxidoreductases-dhtkd1-and-ogdhl-as-linkers-between-mitochondrial-dysfunction-and-eosinophilic-esophagitis
#3
Joseph D Sherrill, Kiran Kc, Xinjian Wang, Ting Wen, Adam Chamberlin, Emily M Stucke, Margaret H Collins, J Pablo Abonia, Yanyan Peng, Qiang Wu, Philip E Putnam, Phillip J Dexheimer, Bruce J Aronow, Leah C Kottyan, Kenneth M Kaufman, John B Harley, Taosheng Huang, Marc E Rothenberg
Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and transketolase domain-containing 1 (DHTKD1). Rare variant burden analysis revealed an overabundance of putative, potentially damaging DHTKD1 mutations in EoE (P = 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#4
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29661969/mutations-in-plasmalemma-vesicle-associated-protein-cause-severe-syndromic-protein-losing-enteropathy
#5
Ilse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, Friederike Körber, Jörg Dötsch, Holger Thiele, Janine Altmüller, Peter Nürnberg, Christoph Hünseler, Sebahattin Cirak
BACKGROUND: Protein-losing enteropathy (PLE) is characterised by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. PLE can manifest as congenital diarrhoea and should be differentiated from other congenital diarrhoeal disorders. Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging. OBJECTIVES: We report an infant with fatal PLE for whom we aimed to uncover the underlying pathogenic mutation...
April 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29661558/genetic-assessment-and-folate-receptor-autoantibodies-in-infantile-onset-cerebral-folate-deficiency-cfd-syndrome
#6
V Th Ramaekers, K Segers, J M Sequeira, M Koenig, L Van Maldergem, V Bours, U Kornak, E V Quadros
INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. STUDY AIMS AND METHODS: Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate...
March 3, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29661171/a-novel-tex11-mutation-induces-azoospermia-a-case-report-of-infertile-brothers-and-literature-review
#7
Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang, Ping Li
BACKGROUND: Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoospermic and infertile men. CASE PRESENTATION: This study reported one novel TEX11 mutation (2653G → T, in exon 29, GenBank accession number, NM_031276) in two brothers with azoospermia. This mutation was firstly screened out by whole-exome sequencing (WES) and further verified by amplifying and sequencing the specific exon 29...
April 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29658329/identification-of-a-novel-mutation-in-fgfr1-gene-in-patients-with-kallmann-syndrome-by-high-throughput-sequencing
#8
Bao-Fang Jin, Zhi-Yong Ji, Zhi-Ying Su, Li-Bin Mei, Xian-Jing Huang, Shao-Bin Lin, Ping Li, Yan-Wei Sha
Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree with autosomal dominant inheritance of KS, and we identified a novel heterozygous frameshift mutation c.299_300insCCGCAGACTCCGGCCTCTATGC (p.C101Rfs*17) in FGFR1 gene using whole-exome sequencing (WES). The mutation and affection status were cosegregated...
April 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#9
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29655802/mars-variant-associated-with-both-recessive-interstitial-lung-and-liver-disease-and-dominant-charcot-marie-tooth-disease
#10
Jonathan Rips, Rebecca Meyer-Schuman, Oded Breuer, Reuven Tsabari, Avraham Shaag, Shoshana Revel-Vilk, Shimon Reif, Orly Elpeleg, Anthony Antonellis, Tamar Harel
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic mutations in genes encoding several ARSs have been identified in axonal Charcot-Marie-Tooth (CMT2) disease, whereas biallelic mutations in ARS loci have been associated with multi-tissue syndromes, variably involving the central nervous system, lung, and liver...
April 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29653142/characterization-of-a-conjunctival-melanoma-cell-line-cm-as16-newly-established-from-a-metastatic-han-chinese-patient
#11
Yongyun Li, Qingfeng Shang, Peng Li, Jinfeng Cao, Liqi Zhu, Martine J Jager, Xianqun Fan, Shengfang Ge, Renbing Jia
Conjunctival melanoma (CM) is associated with metastases formation, can be fatal, and occurs in all different races. While cell lines are essential for experimental research, all available CM cell lines are derived from Caucasian patients. Furthermore, they are not derived from metastases. We aimed to establish a new CM cell line from a parotid metastasis in a Han Chinese patient and to depict its characteristics. The novel cell line, CM-AS16, was obtained from a surgical parotid sample and determined as a unique one with short tandem repeat (STR) analysis...
April 10, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29624628/comparison-of-cemented-vs-screw-retained-customized-computer-aided-design-computer-assisted-manufacture-zirconia-abutments-for-esthetically-located-single-tooth-implants-a-10-year-randomized-prospective-study
#12
Leonardo Amorfini, Stefano Storelli, Daniela Mosca, Massimo Scanferla, Eugenio Romeo
PURPOSE: To compare the clinical outcomes of screw-retained vs cemented single crowns supported by customized zirconia abutments on implants. MATERIALS AND METHODS: Thirty-two patients received implant-supported (Regular Neck, Tissue-Level, Straumann AG), single-tooth restorations with customized zirconia abutments in the anterior areas. Participants were randomly assigned to the screw-retained (full-crown abutment [FCA]) group or the cemented (zirconia crown [ZrC]) group and followed up over a 10-year period...
April 6, 2018: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/29619247/cardiac-arrhythmia-and-neuroexcitability-gene-variants-in-resected-brain-tissue-from-patients-with-sudden-unexpected-death-in-epilepsy-sudep
#13
Daniel Friedman, Kasthuri Kannan, Arline Faustin, Seema Shroff, Cheddhi Thomas, Adriana Heguy, Jonathan Serrano, Matija Snuderl, Orrin Devinsky
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality in young adults. The exact mechanisms are unknown but death often follows a generalized tonic-clonic seizure. Proposed mechanisms include seizure-related respiratory, cardiac, autonomic, and arousal dysfunction. Genetic drivers underlying SUDEP risk are largely unknown. To identify potential SUDEP risk genes, we compared whole-exome sequences (WES) derived from formalin-fixed paraffin embedded surgical brain specimens of eight epilepsy patients who died from SUDEP with seven living controls matched for age at surgery, sex, year of surgery and lobe of resection...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29615056/patient-with-multiple-acyl-coa-dehydrogenase-deficiency-disease-and-etfdh-mutations-benefits-from-riboflavin-therapy-a-case-report
#14
Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim, Rinkoo Dalan
BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene. Whole exome sequencing (WES) with clinical correlations can be useful in identifying genomic alterations for targeted therapy. CASE PRESENTATION: We report a patient presented with severe muscle weakness and exercise intolerance, suggestive of LSM...
April 3, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29610677/potential-association-of-lmna-associated-generalized-lipodystrophy-with-juvenile-dermatomyositis
#15
Melis Sahinoz, Shafaq Khairi, Ashley Cuttitta, Graham F Brady, Amit Rupani, Rasimcan Meral, Marwan K Tayeh, Peedikayil Thomas, Meredith Riebschleger, Sandra Camelo-Piragua, Jeffrey W Innis, M Bishr Omary, Daniel E Michele, Elif A Oral
Background: Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. The p.T10I LMNA variant is associated with a phenotype of generalized lipodystrophy that has also been called atypical progeroid syndrome...
2018: Clinical Diabetes and Endocrinology
https://www.readbyqxmd.com/read/29606097/mucopolysaccharidosis-iiib-and-mild-skeletal-anomalies-coexistence-of-naglu-and-cyp26b1-missense-variations-in-the-same-patient-in-a-chinese-family
#16
Jinliang Li, Han Xie, Yuwu Jiang
BACKGROUND: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare...
April 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29604399/brief-report-recurrently-mutated-genes-differ-between-leptomeningeal-and-solid-lung-cancer-brain-metastases
#17
Yingmei Li, Boxiang Liu, Ian David Connolly, Bina Wasunga Kakusa, Wenying Pan, Seema Nagpal, Stephen B Montgomery, Melanie Hayden Gephart
When compared to solid brain metastases from NSCLC, leptomeningeal disease (LMD) has unique growth patterns and is rapidly fatal. LMD does not undergo surgical resection, limiting the tissue available for scientific research. Here we performed whole-exome sequencing (WES) on 8 LMD samples to identify somatic mutations and compared the results with 26 solid brain metastases. We found that TAS2R31 and PDE4DIP were recurrently mutated among LMD samples, suggesting involvement in LMD progression. Together with retrospective chart review of an additional 44 NSCLC LMD patients, we discovered a surprisingly low number of KRAS mutations (n=4, 7...
March 28, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29600313/comparison-of-1p-and-19q-status-of-glioblastoma-by-whole-exome-sequencing-array-comparative-genomic-hybridization-and-fluorescence-in-situ-hybridization
#18
Jongmin Sim, Do-Hyun Nam, Yuil Kim, In-Hee Lee, Jung Won Choi, Jason K Sa, Yeon-Lim Suh
According to the 2016 World Health Organization classification of tumors of the central nervous system, detecting 1p/19q co-deletion became essential in clinical neuropathology for gliomas with oligodendroglioma-like morphology. Here, we assessed genomic profiles of glioblastoma in 80 cases including 1p/19q status using fluorescent in situ hybridization (FISH), array-comparative genomic hybridization (aCGH), and/or whole exome sequencing (WES). Paraffin-embedded tumor tissues were subjected to FISH analysis, and the corresponding frozen tissues from the same tumors were evaluated for aCGH and/or WES for 1p/19q co-deletion and other genetic parameters, which included IDH1-R132H, ATRX, TP53, CIC, and NOTCH1 mutations and MGMT methylation status...
March 29, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29597095/speech-and-language-delay-in-a-patient-with-wdr4-mutations
#19
Xiang Chen, Yanyan Gao, Lin Yang, Bingbing Wu, Xinran Dong, Bo Liu, Yulan Lu, Wenhao Zhou, Huijun Wang
Primordial dwarfism (PD) is mainly characterized by growth deficiency with heterogeneous phenotypes. A group of genes are known to be associated with PD or PD-related syndrome. WD repeat domain 4 (WDR4) is recently reported to be responsible for PD. Here we report a 6-year-old boy from a non-consanguineous couple with motor and speech delay as well as intellectual disability. Whole exome sequencing (WES) identified a missense mutation (NM_033661.4:c.491A > C; p.(Asp164Ala)) and a small insertion (NM_033661...
March 26, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29595814/whole-exome-sequencing-reanalysis-at-12-months-boosts-diagnosis-and-is-cost-effective-when-applied-early-in-mendelian-disorders
#20
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary-Louise Freckmann, Michelle Lipke, Rani Sachdev, David Miller, Michael Field, Marcel E Dinger, Michael F Buckley, Mark J Cowley, Tony Roscioli
PurposeWhole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway.MethodsWES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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