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https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#1
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087463/effect-of-22-cyp2d6-variants-found-in-the-chinese-population-on-tolterodine-metabolism-in-vitro
#2
Hao Wang, Da-Peng Dai, Peng Sun, Li-Ping Xu, Bing-Qing Liang, Jian-Ping Cai, Guo-Xin Hu
Cytochrome P450 2D6 (CYP2D6) is an important member of the cytochrome P450 enzyme superfamily. We recently identified 22 novel variants in the Chinese population using PCR and bidirectional sequencing methods. The aim of this study is to characterize the enzymatic activity of these variants and their effects on the metabolism of the antimuscarinic drug tolterodine in vitro. A baculovirus-mediated expression system was used to express wild-type CYP2D6 and 24 variants (CYP2D6*2, CYP2D6*10, and 22 novel CYP2D6 variants) at high levels...
January 10, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28087426/next-generation-sequencing-of-a-large-gene-panel-in-patients-initially-diagnosed-with-idiopathic-ventricular-fibrillation
#3
Marloes Visser, Dennis Dooijes, Jasper J van der Smagt, Jeroen F van der Heijden, Pieter A Doevendans, Peter Loh, Folkert W Asselbergs, Rutger J Hassink
BACKGROUND: Idiopathic ventricular fibrillation (IVF) is a rare primary cardiac arrhythmia syndrome that is diagnosed in a resuscitated cardiac arrest victim, with documented ventricular fibrillation, in whom no underlying cause is identified after comprehensive clinical evaluation. In some patients causative genetic mutations are detected which facilitate patient treatment and follow-up. The feasibility of next generation sequencing (NGS) has increased with its greater availability and decreasing costs...
January 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28081592/primary-adenosquamous-carcinoma-of-the-liver-a-case-report
#4
Kyung Han Nam, Ji Yeon Kim
Adenosquamous carcinoma of the liver is a rare variant of cholangiocarcinoma. It is known to be a highly aggressive tumor with a poor prognosis, but its pathogenesis remains unclear owing to limited data in the literature. We report a case of 56-year-old woman who presented with a 1-week history of epigastric pain. Magnetic resonance imaging revealed a 6.5-cm ill-defined mass with low signal intensity in the left lobe of the liver, which was suspicious of cholangiocarcinoma. The patient underwent left hemihepatectomy...
December 2016: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28079935/regional-heritability-mapping-and-genome-wide-association-identify-loci-for-complex-growth-wood-and-disease-resistance-traits-in-eucalyptus
#5
Rafael Tassinari Resende, Marcos Deon Vilela Resende, Fabyano Fonseca Silva, Camila Ferreira Azevedo, Elizabete Keiko Takahashi, Orzenil Bonfim Silva-Junior, Dario Grattapaglia
Although genome-wide association studies (GWAS) have provided valuable insights into the decoding of the relationships between sequence variation and complex phenotypes, they have explained little heritability. Regional heritability mapping (RHM) provides heritability estimates for genomic segments containing both common and rare allelic effects that individually contribute too little variance to be detected by GWAS. We carried out GWAS and RHM for seven growth, wood and disease resistance traits in a breeding population of 768 Eucalyptus hybrid trees using EuCHIP60K...
February 2017: New Phytologist
https://www.readbyqxmd.com/read/28079900/a-curated-gene-list-for-reporting-results-of-newborn-genomic-sequencing
#6
Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, Tim W Yu, Pankaj B Agrawal, Richard B Parad, Ingrid A Holm, Amy McGuire, Robert C Green, Alan H Beggs, Heidi L Rehm
PURPOSE: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately. METHODS: To facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28079314/scn1a-gene-mutation-and-adaptive-functioning-in-18-vietnamese-children-with-dravet-syndrome
#7
Thi Thu Hang Do, Diem My Vu, Thi Thuy Kieu Huynh, Thi Khanh Van Le, Eun Hwa Sohn, Thieu Mai Thao Le, Huu Hao Ha, Chi Bao Bui
BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS: Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28078366/genetic-screening-of-wnt4-and-wnt5b-in-two-populations-with-deviating-bone-mineral-densities
#8
Gretl Hendrickx, Eveline Boudin, Ellen Steenackers, Torben Leo Nielsen, Marianne Andersen, Kim Brixen, Wim Van Hul
A role for WNT4 and WNT5B in bone metabolism was indicated by genome-wide association studies (GWAS) and a Wnt4 knockout mouse model. The aim of this study was therefore to replicate and further investigate the causality between genetic variation in WNT4 and WNT5B and deviating bone mineral density (BMD) values. A WNT4 and WNT5B mutation screening was performed in patients with craniotubular hyperostosis using Sanger sequencing. Here, no putative causal mutations were detected. Moreover, a high and low BMD cohort was selected from the Odense Androgen Study population for re-sequencing...
January 12, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28077647/sensitive-next-generation-sequencing-method-reveals-deep-genetic-diversity-of-hiv-1-in-the-democratic-republic-of-the-congo
#9
M A Rodgers, E Wilkerson, A Vallari, C McArthur, L Sthreshley, C A Brennan, G Cloherty, T de Oliveira
: As the epidemiological epicentre of the human immunodeficiency virus (HIV) pandemic, the Democratic Republic of the Congo (DRC) is a reservoir of circulating HIV strains exhibiting high levels of diversity and recombination. In this study, we characterized HIV specimens collected in two rural areas of the DRC between 2001 and 2003 to identify rare strains of HIV. The env gp41 region was sequenced and characterized for 172 HIV-positive specimens. The env sequences were predominantly subtype A (43...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28077483/primary-sarcomatoid-carcinoma-of-the-small-intestine-very-rare-and-aggressive-tumour
#10
Peter Abotaga Andrawes, Masood Shariff, Qing Chang, Roman Grinberg
Sarcomatoid carcinoma of the small intestine is a very rare and aggressive variant of small intestinal cancers with poor prognosis. The tumour primarily affects middle-aged and older patients with a mean age of 57 years at the time of presentation. We report a woman aged 58 years without any relevant medical history who presented with small intestinal obstruction. She underwent radiologic and endoscopy investigation with persistent features of small bowel obstruction. The patient was found to have a small bowel tumour causing the obstruction and underwent surgical excision of the tumour...
January 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28076858/non-coding-loss-of-function-variation-in-human-genomes
#11
Zachary Zappala, Stephen B Montgomery
Whole-genome and exome sequencing in human populations has revealed the tolerance of each gene for loss-of-function variation. By understanding this tolerance, it has become increasingly possible to identify genes that would make safe therapeutic targets and to identify rare genetic risk factors and phenotypes at the scale of individual genomes. To date, the vast majority of surveyed loss-of-function variants are in protein-coding regions of the genome mainly due to the focus on these regions by exome-based sequencing projects and their relative ease of interpretability...
2016: Human Heredity
https://www.readbyqxmd.com/read/28076512/mutation-analysis-of-nanos3-in-brazilian-women-with-primary-ovarian-failure
#12
Braian Lucas A Sousa, Mirian Yumie Nishi, Mariza Gerdulo Santos, Vinicius Nahime Brito, Sorahia Domenice, Berenice B Mendonca
OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of unknown etiology and compared the results with those from 185 women with normal fertility...
December 1, 2016: Clinics
https://www.readbyqxmd.com/read/28076021/radiologic-assessment-of-native-renal-vasculature-a-multimodality-review
#13
Sayf Al-Katib, Monisha Shetty, Syed Mohammad A Jafri, Syed Zafar H Jafri
A wide range of clinically important anatomic variants and pathologic conditions may affect the renal vasculature, and radiologists have a pivotal role in the diagnosis and management of these processes. Because many of these entities may not be suspected clinically, renal artery and vein assessment is an essential application of all imaging modalities. An understanding of the normal vascular anatomy is essential for recognizing clinically important anatomic variants. An understanding of the protocols used to optimize imaging modalities also is necessary...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28075051/bilateral-multifocal-upper-extremity-atypical-granular-cell-tumors-presenting-as-long-standing-right-wrist-and-left-hand-masses-in-a-15-year-old-african-american-female
#14
Michael DeWall, Corey O Montgomery, Jerad M Gardner
Granular cell tumor (GrCT) is a benign nerve sheath tumor. Atypical and malignant variants of GrCT are rare but have been well described. We report a case of multifocal symmetric atypical GrCT in the bilateral hand/wrists of a 15 year old African American female. The initial clinical impression for both masses were favored to be ganglion cysts. Ultrasound findings of both masses revealed hypoechoic soft tissue lesions with some internal echogenicity favoring complex cysts. On excision, both masses were histologically circumscribed, lobulated, and attached to tendon...
January 11, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28074983/-role-of-coronary-computed-tomography-angiography-for-the-diagnosis-of-coronary-anomalies
#15
Rienzi Díaz, Jorge Vega
BACKGROUND: Coronary anomalies are rare heart diseases that can cause sudden cardiac death, especially in young individuals. Coronary computed tomography angiography delivers a three-dimensional view of excellent quality with information of the origin, course and anatomic relationships of the anomalous vessel, allowing differentiation between benign and malignant variants, entities that require different management and treatment. AIM: To show that coronary computed tomography angiography is the non-invasive technique of choice for the evaluation of a coronary anomaly due to its high diagnostic accuracy...
October 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28073878/foamy-gland-variant-of-adenocarcinoma-of-prostate-a-rare-pathological-variant
#16
Aditi Arora, Ritika Jaiswal, Nidhi Anand, Nuzhat Husain
No abstract text is available yet for this article.
January 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#17
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28072477/recurrent-nab2-stat6-gene-fusions-and-estrogen-receptor-alpha-expression-in-pulmonary-adenofibromas
#18
Nicola Fusco, Elena Guerini-Rocco, Claudia Augello, Andrea Terrasi, Giulia Ercoli, Caterina Fumagalli, Davide Vacirca, Paola Braidotti, Antonina Parafioriti, Marta Jaconi, Letterio Runza, Vijayalakshmi Ananthanarayanan, Fabio Pagni, Silvano Bosari, Massimo Barberis, Stefano Ferrero
AIMS: Pulmonary adenofibromas are rare benign fibroepithelial tumours of the lung with unknown histogenesis and an indolent clinical behaviour. Their stroma resembles that of solitary fibrous tumours, while the glands are composed of respiratory epithelium organized in a phyllodes-like architecture. Differentiation of pulmonary adenofibromas from other more aggressive intrathoracic tumours is clinically relevant. However, their biology is unknown. Here, we sought to characterize pulmonary adenofibromas at a clinicopathologic level and to define whether they could be underpinned by a highly recurrent somatic genetic alteration akin to tumours with similar morphology...
January 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28069705/multilevel-analyses-of-scn5a-mutations-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-suggest-non-canonical-mechanisms-for-disease-pathogenesis
#19
Anneline S J M Te Riele, Esperanza Agullo-Pascual, Cynthia A James, Alejandra Leo-Macias, Marina Cerrone, Mingliang Zhang, Xianming Lin, Bin Lin, Nara L Sobreira, Nuria Amat-Alarcon, Roos F Marsman, Brittney Murray, Crystal Tichnell, Jeroen F van der Heijden, Dennis Dooijes, Toon A B van Veen, Harikrishna Tandri, Steven J Fowler, Richard N W Hauer, Gordon Tomaselli, Maarten P van den Berg, Matthew R G Taylor, Francesca Brun, Gianfranco Sinagra, Arthur A M Wilde, Luisa Mestroni, Connie R Bezzina, Hugh Calkins, J Peter van Tintelen, Lei Bu, Mario Delmar, Daniel P Judge
AIMS: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C. METHODS AND RESULTS: We performed whole-exome sequencing in six ARVD/C patients (33% male, 38.2 ± 12.1 years) without a desmosomal mutation...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28069311/investigating-the-role-of-als-genes-chchd10-and-tuba4a-in-belgian-ftd-als-spectrum-patients
#20
Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Jean-Jacques Martin, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p.Pro34Ser, p.Pro80Leu, and p...
December 21, 2016: Neurobiology of Aging
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