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https://www.readbyqxmd.com/read/28106546/a-common-variant-of-il-6r-is-associated-with-elevated-il-6-pathway-activity-in-alzheimer-s-disease-brains
#1
Patrick C G Haddick, Jessica L Larson, Nisha Rathore, Tushar R Bhangale, Qui T Phung, Karpagam Srinivasan, David V Hansen, Jennie R Lill, Margaret A Pericak-Vance, Jonathan Haines, Lindsay A Farrer, John S Kauwe, Gerard D Schellenberg, Carlos Cruchaga, Alison M Goate, Timothy W Behrens, Ryan J Watts, Robert R Graham, Joshua S Kaminker, Marcel van der Brug
The common p.D358A variant (rs2228145) in IL-6R is associated with risk for multiple diseases and with increased levels of soluble IL-6R in the periphery and central nervous system (CNS). Here, we show that the p.D358A allele leads to increased proteolysis of membrane bound IL-6R and demonstrate that IL-6R peptides with A358 are more susceptible to cleavage by ADAM10 and ADAM17. IL-6 responsive genes were identified in primary astrocytes and microglia and an IL-6 gene signature was increased in the CNS of late onset Alzheimer's disease subjects in an IL6R allele dependent manner...
January 18, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28104484/sick-sinus-syndrome-with-hcn4-mutations-shows-early-onset-and-frequent-association-with-atrial-fibrillation-and-left-ventricular-non-compaction
#2
Taisuke Ishikawa, Seiko Ohno, Takashi Murakami, Kentaro Yoshida, Hiroyuki Mishima, Tetsuya Fukuoka, Hiroki Kimoto, Risa Sakamoto, Takafumi Ohkusa, Takeshi Aiba, Akihiko Nogami, Naokata Sumitomo, Wataru Shimizu, Koh-Ichiro Yoshiura, Hitoshi Horigome, Minoru Horie, Naomasa Makita
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. We previously found that SSS with SCN5A mutations shows early onset of manifestations and male predominance. Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular non-compaction (LVNC) in patients with SSS caused by HCN4 mutations, their overall clinical spectrum remains unknown. OBJECTIVE: To investigate the clinical and demographic features of SSS patients carrying HCN4 mutations...
January 16, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28104029/-next-generation-sequencing-technology-for-susceptible-gene-screening-in-familial-non-medullary-thyroid-carcinoma
#3
L Dong, Y Yu, J P Yu, W J Hao, X Q Zheng, Y N Cheng, L Han, J Z Zhao, M Gao
Objective: To screen genes related to familial non-medullary thyroid carcinoma (FNMTC) using next-generation sequencing (NGS). Methods: A panel of NGS was designed and sequencing was performed for DNA samples extracted from peripheral blood leukocytes of FNMTC patients and sporadic non-medullary thyroid carcinoma (SNMTC) cases, respectively, and gene mutations were screened. In addition, the clinicopathological characteristics, including tumor size, extension of surgery, lymph node metastasis and extra-thyroidal extension, were compared between patients with or without mutations...
January 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28103675/genome-mining-of-amino-group-carrier-protein-mediated-machinery-discovery-and-biosynthetic-characterization-of-a-natural-product-with-unique-hydrazone-unit
#4
Kenichi Matsuda, Fumihito Hasebe, Yuh Shiwa, Yu Kanesaki, Takeo Tomita, Hirofumi Yoshikawa, Kazuo Shin-Ya, Tomohisa Kuzuyama, Makoto Nishiyama
We recently revealed that a Streptomyces strain possesses the gene encoding amino group carrier protein (AmCP). AmCP is involved in the biosynthesis of a previously unidentified nonproteinogenic amino acid, (2S,6R)-diamino-(5R,7)-dihydroxy-heptanoic acid (DADH), which is a core compound for the synthesis of the dipeptide-containing novel natural product vazabitide A. We used polymerase chain reaction (PCR) screening to investigate the diversity of the biosynthetic machinery that uses AmCP; the results revealed that genes encoding AmCP are widely distributed among actinomycetes...
January 20, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#5
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28102592/six-uneventful-pregnancy-outcomes-in-an-extended-vascular-ehlers-danlos-syndrome-family
#6
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28101480/spectrum-of-cutaneous-adverse-reactions-to-levetiracetam-and-human-leukocyte-antigen-typing-in-north-indian-patients
#7
Bhargavi Ramanujam, Kavish Ihtisham, Gurvinder Kaur, Shivani Srivastava, Narinder Kumar Mehra, Neena Khanna, Mahip Singh, Manjari Tripathi
BACKGROUND AND PURPOSE: Aromatic antiepileptic drugs are frequently implicated for cutaneous adverse drug reactions (cADRs); there are case-reports of even severe reactions like drug reaction eosinophilia and systemic symptoms (DRESS) and Stevens Johnson syndrome (SJS)-toxic epidermal necrolysis with Levetiracetam (LEV). Certain human leukocyte antigen (HLA)-alleles have strong association with cADRs due to specific drugs - HLA-B*15:02 and HLA-A*31:01 in Carbamazepine (CBZ)-related SJS in Han-Chinese and European populations, respectively...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28099363/different-ret-gene-mutation-induced-multiple-endocrine-neoplasia-type-2a-in-3-chinese-families
#8
Qiuli Liu, Dali Tong, Wenqiang Yuan, Gaolei Liu, Gang Yuan, Weihua Lan, Dianzheng Zhang, Jun Zhang, Zaoming Huang, Yao Zhang, Jun Jiang
BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28097223/abca7-loss-of-function-variants-expression-and-neurologic-disease-risk
#9
Mariet Allen, Sarah J Lincoln, Morgane Corda, Jens O Watzlawik, Minerva M Carrasquillo, Joseph S Reddy, Jeremy D Burgess, Thuy Nguyen, Kimberly Malphrus, Ronald C Petersen, Neill R Graff-Radford, Dennis W Dickson, Nilüfer Ertekin-Taner
OBJECTIVE: To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk. METHODS: We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and assessed the overall mutational burden for association with different diagnosis groups...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28096438/infection-prophylaxis-in-peritoneal-dialysis-patients-results-from-an-australia-new-zealand-survey
#10
Denise J Campbell, David W Mudge, Martin P Gallagher, Wai H Lim, Ranganathan Dwarakanathan, Walaa Saweirs, Jonathan C Craig
♦ Background: Clinical practice guidelines aim to reduce the rates of peritoneal dialysis (PD)-related infections, a common complication of PD in end-stage kidney disease patients. We describe the clinical practices used by Australian and New Zealand nephrologists to prevent PD-related infections in PD patients. ♦ Methods: A survey of PD practices in relation to the use of antibiotic and antifungal prophylaxis in PD patients was conducted of practicing nephrologists identified via the Australia and New Zealand Society of Nephrology (ANZSN) membership in 2013...
January 17, 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/28095410/cardiomyocyte-regulation-of-systemic-lipid-metabolism-by-the-apolipoprotein-b-containing-lipoproteins-in-drosophila
#11
Sunji Lee, Hong Bao, Zachary Ishikawa, Weidong Wang, Hui-Ying Lim
The heart has emerged as an important organ in the regulation of systemic lipid homeostasis; however, the underlying mechanism remains poorly understood. Here, we show that Drosophila cardiomyocytes regulate systemic lipid metabolism by producing apolipoprotein B-containing lipoproteins (apoB-lipoproteins), essential lipid carriers that are so far known to be generated only in the fat body. In a Drosophila genetic screen, we discovered that when haplo-insufficient, microsomal triglyceride transfer protein (mtp), required for the biosynthesis of apoB-lipoproteins, suppressed the development of diet-induced obesity...
January 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28093916/understanding-coulomb-scattering-mechanism-in-monolayer-mos2-channel-in-the-presence-of-h-bn-buffer-layer
#12
Min-Kyu Joo, Byoung Hee Moon, Hyunjin Ji, Gang Hee Han, Hyun Kim, Gwan Mu Lee, Seong Chu Lim, Dongseok Suh, Young Hee Lee
As the thickness becomes thinner, the importance of Coulomb scattering in two-dimensional layered materials increases because of the close proximity between channel and interfacial layer and the reduced screening effects. The Coulomb scattering in the channel is usually obscured mainly by the Schottky barrier at the contact in the noise measurements. Here, we report low-temperature (T) noise measurements to understand the Coulomb scattering mechanism in MoS2 channel in the presence of h-BN buffer layer on silicon dioxide (SiO2) insulating layer...
January 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28091804/baseline-results-from-the-uk-signify-study-a-whole-body-mri-screening-study-in-tp53-mutation-carriers-and-matched-controls
#13
Sibel Saya, Emma Killick, Sarah Thomas, Natalie Taylor, Elizabeth K Bancroft, Jeanette Rothwell, Sarah Benafif, Alexander Dias, Christos Mikropoulos, Jenny Pope, Anthony Chamberlain, Ranga Gunapala, Louise Izatt, Lucy Side, Lisa Walker, Susan Tomkins, Jackie Cook, Julian Barwell, Vicki Wiles, Lauren Limb, Diana Eccles, Martin O Leach, Susan Shanley, Fiona J Gilbert, Helen Hanson, David Gallagher, Bala Rajashanker, Richard W Whitehouse, Dow-Mu Koh, S Aslam Sohaib, D Gareth Evans, Rosalind A Eeles
In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated...
January 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28090007/ductal-carcinoma-in-situ-detected-during-prospective-mr-imaging-screening-of-a-woman-with-a-brca2-mutation-the-first-case-report-in-japan
#14
Mitsuhiro Tozaki, Seigo Nakamura, Dai Kitagawa, Takuji Iwase, Rie Horii, Futoshi Akiyama, Masami Arai
The present case is the first report in Japan in which a breast cancer was discovered as a result of prospective magnetic resonance imaging (MRI) screening study for BRCA1/2 mutation carriers who were free of breast or ovarian cancer. This case is significant and it verifies the importance of MRI screening in breast or ovarian cancer-free BRCA1/2 mutation carriers who do not exhibit positive mammographic or ultrasonographic findings.
January 13, 2017: Magnetic Resonance in Medical Sciences: MRMS
https://www.readbyqxmd.com/read/28087362/clinical-phenotypes-and-outcomes-of-heritable-and-sporadic-pulmonary-veno-occlusive-disease-a-population-based-study
#15
David Montani, Barbara Girerd, Xavier Jaïs, Marilyne Levy, David Amar, Laurent Savale, Peter Dorfmüller, Andrei Seferian, Edmund M Lau, Mélanie Eyries, Jérôme Le Pavec, Florence Parent, Damien Bonnet, Florent Soubrier, Elie Fadel, Olivier Sitbon, Gérald Simonneau, Marc Humbert
BACKGROUND: Bi-allelic mutations of the EIF2AK4 gene cause heritable pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH). We aimed to assess the effect of EIF2AK4 mutations on the clinical phenotypes and outcomes of PVOD/PCH. METHODS: We did a population-based study using clinical, functional, and haemodynamic data from the registry of the French Pulmonary Hypertension Network. We reviewed the clinical data and outcomes from all patients referred to the French Referral Centre (Pulmonary Department, Hospital Kremlin-Bicêtre, University Paris-Sud) with either confirmed or highly probable PVOD/PCH with DNA available for mutation screening (excluding patients with other risk factors of pulmonary hypertension, such as chronic respiratory diseases)...
January 10, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28087352/engineering-hot-melt-extruded-solid-dispersion-for-controlled-release-of-hydrophilic-drugs
#16
Shuli Zhang, Xuan Meng, Zheng Wang, Aiping Fan, Guocheng Wang, Yanjun Zhao, Yu Tang
It is often challenging to precisely manipulate the release behavior of hydrophilic drugs that is believed to be crucial for a satisfactory therapeutic outcome. The aim of this work was to regulate the dissolution of hydrophilic drug from hot-melt extruded solid dispersion via rational screening of the pore-forming agents. Venlafaxine hydrochloride and Compritol® 888 ATO was selected as the model drug and carrier excipient, respectively. Hydrophilic polyethylene glycol (PEG 6000) and polyvinylpyrolidone (PVP K30) were chosen as the transient pore-forming agents...
January 10, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28076827/new-diphenylmethane-derivatives-as-peroxisome-proliferator-activated-receptor-alpha-gamma-dual-agonists-endowed-with-anti-proliferative-effects-and-mitochondrial-activity
#17
Luca Piemontese, Carmen Cerchia, Antonio Laghezza, Pamela Ziccardi, Sabina Sblano, Paolo Tortorella, Vito Iacobazzi, Vittoria Infantino, Paolo Convertini, Fabrizio Dal Piaz, Angelo Lupo, Vittorio Colantuoni, Antonio Lavecchia, Fulvio Loiodice
We screened a short series of new chiral diphenylmethane derivatives and identified potent dual PPARα/γ partial agonists. As both enantiomers of the most active compound 1 displayed an unexpected similar transactivation activity, we performed docking experiments to provide a molecular understanding of their similar partial agonism. We also evaluated the ability of both enantiomers of 1 and racemic 2 to inhibit colorectal cancer cells proliferation: (S)-1 displayed a more robust activity due, at least in part, to a partial inhibition of the Wnt/β-catenin signalling pathway that is upregulated in the majority of colorectal cancers...
December 24, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28075532/clinical-and-biochemical-characterization-of-the-prothrombin-belgrade-mutation-in-a-large-serbian-pedigree-new-insights-into-antithrombin-resistance-mechanism
#18
Predrag Miljic, Maja Gvozdenov, Yuki Takagi, Akira Takagi, Iva Pruner, Marija Dragojevic, Branko Tomic, Jelena Bodrozic, Tetsuhito Kojima, Dragica Radojkovic, Valentina Djordjevic
BACKGROUND: The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade). This substitution impairs binding of antithrombin to thrombin and results in inherited thrombophilia, known as antithrombin resistance. OBJECTIVES: We aimed to elucidate the clinical and biochemical characteristics of thrombophilia associated with antithrombin resistance in a large Serbian family with the prothrombin Belgrade mutation...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28074835/topological-dirac-nodal-lines-and-surface-charges-in-fcc-alkaline-earth-metals
#19
Motoaki Hirayama, Ryo Okugawa, Takashi Miyake, Shuichi Murakami
In nodal-line semimetals, the gaps close along loops in k space, which are not at high-symmetry points. Typical mechanisms for the emergence of nodal lines involve mirror symmetry and the π Berry phase. Here we show via ab initio calculations that fcc calcium (Ca), strontium (Sr) and ytterbium (Yb) have topological nodal lines with the π Berry phase near the Fermi level, when spin-orbit interaction is neglected. In particular, Ca becomes a nodal-line semimetal at high pressure. Owing to nodal lines, the Zak phase becomes either π or 0, depending on the wavevector k, and the π Zak phase leads to surface polarization charge...
January 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/28072833/accurate-breakpoint-mapping-in-apparently-balanced-translocation-families-with-discordant-phenotypes-using-whole-genome-mate-pair-sequencing
#20
Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani
Familial apparently balanced translocations (ABTs) segregating with discordant phenotypes are extremely challenging for interpretation and counseling due to the scarcity of publications and lack of routine techniques for quick investigation. Recently, next generation sequencing has emerged as an efficacious methodology for precise detection of translocation breakpoints. However, studies so far have mainly focused on de novo translocations. The present study focuses specifically on familial cases in order to shed some light to this diagnostic dilemma...
2017: PloS One
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