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https://www.readbyqxmd.com/read/28733343/profile-of-neonatal-epilepsies-characteristics-of-a-prospective-us-cohort
#1
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio
OBJECTIVE: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures. METHODS: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28733143/mechanisms-of-nlrp1-mediated-autoinflammatory-disease-in-humans-and-mice
#2
REVIEW
Chien-Hsiung Yu, Jonas Moecking, Matthias Geyer, Seth L Masters
NLRP1 was the first NLR protein described to form an inflammasome, recruiting ASC to activate caspase-1, which processes interleukin-1β and interleukin-18 to their active form. A wealth of new genetic information has now redefined our understanding of this innate immune sensor. Specifically, rare loss-of-function variants in the N-terminal pyrin domain (PYD) indicate that this part of NLRP1 is autoinhibitory, and normally acts to prevent a familial autoinflammatory skin disease associated with cancer. In the absence of a ligand to trigger human NLRP1, these mutations have now confirmed the requirement of NLRP1 autolytic cleavage within the FIIND domain, which had previously been implicated in NLRP1 activation...
July 18, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28732181/irf6-and-spry4-signaling-interact-in-periderm-development
#3
Y A Kousa, R Roushangar, N Patel, A Walter, P Marangoni, R Krumlauf, O D Klein, B C Schutte
Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder. Common variants in IRF6 and GRHL3 also contribute risk for isolated orofacial clefting. Similarly, variants within genes that encode receptor tyrosine kinase (RTK) signaling components, including members of the FGF pathway, EPHA3 and SPRY2, also contribute risk for isolated orofacial clefting. In the mouse, loss of Irf6 or perturbation of Fgf signaling leads to abnormal oral epithelial adhesions and cleft palate...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28731134/a-novel-gene-expression-scoring-system-for-accurate-diagnosis-of-basaloid-squamous-cell-carcinoma-of-the-esophagus
#4
Takeshi Tada, Reiko Honma, Jun-Ichi Imai, Zenichiro Saze, Michihiko Kogure, Shigeru Marubashi, Kazuhiro Tasaki, Masamitu Unakami, Junji Ezaki, Hirosumi Tamura, Akira Nishikawa, Yuko Hashimoto, Satoshi Waguri, Shinya Watanabe, Mitsukazu Gotoh
Basaloid squamous cell carcinoma of the esophagus (BSCE) is a rare variant of squamous cell carcinoma that is difficult to distinguish from other carcinomas by preoperative endoscopic biopsy because of its histological varieties. Accurate diagnosis is essential for adequate treatment, and the methods proposed so far (e.g., immunohistochemical staining) have limitations. In this study, we tried to identify the characteristic bundles of gene expression in BSCE using comprehensive gene expression analysis (CGEA)...
July 19, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28731049/composite-hemangioendothelioma-with-neuroendocrine-marker-expression-an-aggressive-variant
#5
Kyle D Perry, Alyaa Al-Lbraheemi, Brian P Rubin, Jin Jen, Hongzheng Ren, Jin Sung Jang, Asha Nair, Jaime Davila, Stefan Pambuccian, Andrew Horvai, William Sukov, Henry D Tazelaar, Andrew L Folpe
Aberrant expression of neuroendocrine markers is extremely rare in endothelial neoplasms, with only a single report describing three cases. Although originally classified as conventional angiosarcoma, further assessment of these tumors revealed a strikingly composite morphology composed of retiform and epithelioid elements reminiscent of composite hemangioendothelioma, a rare subtype of hemangioendothelioma. To further investigate these findings, available materials from 11 morphologically distinctive endothelial tumors showing neuroendocrine marker expression were retrieved from our archives...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28730685/tex15-a-dna-repair-gene-associated-with-prostate-cancer-risk-in-han-chinese
#6
Xiaoling Lin, Zhongzhong Chen, Peng Gao, Zhimei Gao, Haitao Chen, Jun Qi, Fang Liu, Dingwei Ye, Haowen Jiang, Rong Na, Hongjie Yu, Rong Shi, Daru Lu, Siqun Lilly Zheng, Zengnan Mo, Yinghao Sun, Qiang Ding, Jianfeng Xu
BACKGROUND: Both common and rare genetic variants may contribute to risk of developing prostate cancer. Genome-wide association studies (GWASs) have identified ∼100 independent, common variants associated with prostate cancer risk. However, little is known about the association of rare variants (minor allele frequency [MAF] <1%) in the genome with prostate cancer risk. METHODS: A two-stage study was used to test the association of rare, deleterious coding variants, annotated using predictive algorithms, with prostate cancer risk in Chinese men...
July 21, 2017: Prostate
https://www.readbyqxmd.com/read/28730244/keratoacanthoma-centrifugum-marginatum-an-unusual-clinical-and-histopathological-diagnostic-pitfall
#7
Tiberiu Augustin Georgescu, Ana Maria Oproiu, Mihai George Rădăşan, Adrian Vasile Dumitru, Diana Costache, Oana Maria Pătraşcu, Anca Mihaela Lăzăroiu, Alina Elena Chefani, Maria Sajin, Mariana Costache
Keratoacanthoma centrifugum marginatum (KCM) is a very rare variant of keratoacanthoma characterized by progressive peripheral growth accompanied by central healing. The tumor has the peculiar ability to involute spontaneously. A careful differential diagnostic with other skin carcinomas or hyperkeratotic lesions is required in order to ensure appropriate clinical management. We report a case of KCM in a 62-year-old man presenting with a solitary, large exophytic, sessile tumor located on the ventral side of the right lower leg, which developed over the course of one year from an initial erythematous papule...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28729732/evidence-of-selection-on-splicing-associated-loci-in-human-populations-and-relevance-to-disease-loci-mapping
#8
Eric R Gamazon, Anuar Konkashbaev, Eske M Derks, Nancy J Cox, Younghee Lee
We performed a whole-genome scan of genetic variants in splicing regulatory elements (SREs) and evaluated the extent to which natural selection has shaped extant patterns of variation in SREs. We investigated the degree of differentiation of single nucleotide polymorphisms (SNPs) in SREs among human populations and applied long-range haplotype- and multilocus allelic differentiation-based methods to detect selection signatures. We describe an approach, sampling a large number of loci across the genome from functional classes and using the consensus from multiple tests, for identifying candidates for selection signals...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729679/a-population-specific-reference-panel-empowers-genetic-studies-of-anabaptist-populations
#9
Liping Hou, Rachel L Kember, Jared C Roach, Jeffrey R O'Connell, David W Craig, Maja Bucan, William K Scott, Margaret Pericak-Vance, Jonathan L Haines, Michael H Crawford, Alan R Shuldiner, Francis J McMahon
Genotype imputation is a powerful strategy for achieving the large sample sizes required for identification of variants underlying complex phenotypes, but imputation of rare variants remains problematic. Genetically isolated populations offer one solution, however population-specific reference panels are needed to assure optimal imputation accuracy and allele frequency estimation. Here we report the Anabaptist Genome Reference Panel (AGRP), the first whole-genome catalogue of variants and phased haplotypes in people of Amish and Mennonite ancestry...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729369/pigmentary-retinopathy-rod-cone-dysfunction-and-sensorineural-deafness-associated-with-a-rare-mitochondrial-trna-lys-m-8340g-a-gene-variant
#10
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes
BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS: The patient was examined clinically and investigated with autofluorescence, full-field electroretinography, electro-oculogram and dark adaptometry...
July 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28729142/nocardia-farcinica-brain-abscess-report-of-3-cases
#11
Ana Galacho-Harriero, Pedro D Delgado-López, Maria P Ortega-Lafont, Javier Martín-Alonso, José M Castilla-Díez, Belen Sánchez-Borge
BACKGROUND: Central nervous system nocardial infection is a rarely reported disease that usually affects patients with predisposing and debilitating conditions but also the immunocompetent population. The most common variant affecting the brain is Nocardia farcinica. Management of brain nocardiosis is troublesome and requires consideration of the severity of the underlying systemic disease, the difficulties in identifying the bacterium and the frequent delay in initiating adequate therapy...
July 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28728189/spontaneous-globe-rupture-due-to-rapidly-evolving-endogenous-hypermucoid-klebsiella-pneumoniae-endophthalmitis
#12
Edward H Wood, Matthew A Powers, Darius M Moshfeghi
In this retrospective report, the authors describe a rare case of spontaneous globe rupture from Klebsiella pneumoniae endophthalmitis in a middle-aged man with poorly controlled type 2 diabetes mellitus. There have been only four previously reported cases of spontaneous globe rupture from endophthalmitis. Out of the now five reported cases, all have been due to endogenous endophthalmitis, four have been due to gram-negative bacteria, and three have been due to K. pneumoniae. K. pneumoniae, especially the hypermucoid variant with a protective polysaccharide capsule, is an emerging pathogen with remarkable virulence...
July 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28727378/anastomosing-hemangioma-simulating-renal-cell-carcinoma
#13
Mariana Athaniel Silva, Eduardo Kaiser Ururahy Nunes Fonseca, Fernando Ide Yamauchi, Ronaldo Hueb Baroni
The anastomosing hemangioma is a recent described rare variant, which histologically simulates an angiosarcoma and occurs primarily in the genitourinary tract. We present a case of renal anastomosing hemangioma from a radiologic perspective, describing its imaging features and reviewing its presentation and management.
June 14, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/28726809/genomic-diagnostics-within-a-medically-underserved-population-efficacy-and-implications
#14
Kevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Katie B Williams, Alejandra K King, Cristopher Van Hout, Donna L Robinson, Millie Young, Kavita Praveen, Adam D Heaps, Mindy Kuebler, Aris Baras, Jeffrey G Reid, John D Overton, Frederick E Dewey, Robert N Jinks, Ian Finnegan, Scott J Mellis, Alan R Shuldiner, Erik G Puffenberger
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998 and 2015 remained undiagnosed after biochemical and molecular investigations. We generated WES data for probands and family members and vetted variants through rephenotyping, segregation analyses, and population studies.ResultsThe most common presentation was neurological disease (64%)...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726542/generation-and-functional-characterization-of-anti-human-and-anti-mouse-il-36r-antagonist-monoclonal-antibodies
#15
Rajkumar Ganesan, Ernest L Raymond, Detlev Mennerich, Joseph R Woska, Gary Caviness, Christine Grimaldi, Jennifer Ahlberg, Rocio Perez, Simon Roberts, Danlin Yang, Kavita Jerath, Kristopher Truncali, Lee Frego, Eliud Sepulveda, Priyanka Gupta, Su-Ellen Brown, Michael D Howell, Keith A Canada, Rachel Kroe-Barrett, Jay S Fine, Sanjaya Singh, M Lamine Mbow
Deficiency of interleukin (IL)-36 receptor antagonist (DITRA) syndrome is a rare autosomal recessive disease caused by mutations in IL36RN. IL-36R is a cell surface receptor and a member of the IL1R family that is involved in inflammatory responses triggered in skin and other epithelial tissues. Accumulating evidence suggests that IL-36R signaling may play a role in the pathogenesis of psoriasis. Therapeutic intervention of IL-36R signaling offers an innovative treatment paradigm for targeting epithelial cell-mediated inflammatory diseases such as the life-threatening psoriasis variant called generalized pustular psoriasis (GPP)...
July 20, 2017: MAbs
https://www.readbyqxmd.com/read/28726538/marked-bleeding-diathesis-in-patients-with-platelet-dysfunction-due-to-a-novel-mutation-in-rasgrp2-encoding-caldag-gefi-p-gly305asp
#16
Emilse Bermejo, Maria F Alberto, David S Paul, Aaron A Cook, Paquita Nurden, Analia Sanchez Luceros, Alan T Nurden, Wolfgang Bergmeier
Congenital platelet function disorders are often the result of defects in critical signal transduction pathways required for platelet adhesion and clot formation. Mutations affecting RASGRP2, the gene encoding the Rap GTPase activator, CalDAG-GEFI, give rise to a novel, and rare, group of platelet signal transduction abnormalities. We here report platelet function studies for two brothers (P1 and P2) expressing a novel variant of RASGRP2, CalDAG-GEFI(p.Gly305Asp). P1 and P2 have a lifelong history of bleeding with severe epistaxis successfully treated with platelet transfusions or rFVIIa...
July 20, 2017: Platelets
https://www.readbyqxmd.com/read/28726122/beta-ketothiolase-deficiency-presenting-with-metabolic-stroke-after-a-normal-newborn-screen-in-two-individuals
#17
Monica H Wojcik, Klaas J Wierenga, Lance H Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A Genetti, Meghan C Towne, Roy W A Peake, Philip M James, Alan H Beggs, Catherine A Brownstein, Gerard T Berry, Pankaj B Agrawal
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder characterized by impaired isoleucine catabolism and ketone body utilization that predisposes to episodic ketoacidosis. It results from biallelic pathogenic variants in the ACAT1 gene, encoding mitochondrial beta-ketothiolase. We report two cases of beta-ketothiolase deficiency presenting with acute ketoacidosis and "metabolic stroke." The first patient presented at 28 months of age with metabolic acidosis and pallidal stroke in the setting of a febrile gastrointestinal illness...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28725155/a-case-of-severe-erythema-nodosum-induced-by-methimazole
#18
Selma Emre, Didem Ozdemir, Sibel Orhun, Goknur Kalkan, Sertac Sener
Erythema nodosum (EN), is the most common variant of septal panniculitis and is possibly a delayed hypersensitivity reaction triggered by a wide range of antigenic stimuli. Hypersensitivity reactions due to medications have been recognized as a cause of 3-10% of EN cases. Case reports of EN associated with the anti-thyroid drugs are quite rarely reported in the literature even if there is a common use of anti-thyroid drugs. We report an EN case due to methimazole. The complaints of patients arose immediately fifteen days after the beginning of methimazole treatment...
July 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28724605/heterozygous-loss-of-function-mutation-in-odd-skipped-related-1-osr1-is-associated-with-vesico-ureteric-reflux-duplex-systems-and-hydronephrosis
#19
Marie-Lyne Fillion, Jasmine El Andalousi, Fatima Tokhmafshan, Vasikar Murugapoopathy, Christine L Watt, Inga J Murawski, John-Paul Capolicchio, Mohamed El-Sherbiny, Roman Jednak, Indra Rani Gupta
Osr1 is a transcriptional repressor that plays critical roles in maintaining the mesenchymal stem cell population within the developing kidney. Here, we report that newborn pups with a heterozygous null mutation in Osr1 exhibit a 21% incidence of vesico-ureteric reflux and have hydronephrosis and urinary tract duplications. Newborn pups have a short intravesical ureter resulting in a less competent uretero-vesical junction which arises from a delay in urinary tract development. We describe a new domain of Osr1 expression in the ureteral mesenchyme and within the developing bladder in the mouse...
July 19, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28724061/multi-locus-mixed-model-analysis-of-stem-rust-resistance-in-winter-wheat
#20
Paul D Mihalyov, Virginia A Nichols, Peter Bulli, Matthew N Rouse, Michael O Pumphrey
Genome-wide association mapping is a powerful tool for dissecting the relationship between phenotypes and genetic variants in diverse populations. With the improved cost efficiency of high-throughput genotyping platforms, association mapping is a desirable method of mining populations for favorable alleles that hold value for crop improvement. Stem rust, caused by the fungus f. sp. is a devastating disease that threatens wheat ( L.) production worldwide. Here, we explored the genetic basis of stem rust resistance in a global collection of 1411 hexaploid winter wheat accessions genotyped with 5390 single nucleotide polymorphism markers...
July 2017: Plant Genome
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