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Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Chaoqiong Liang, Jianjun Hao, Yan Meng, Laixin Luo, Jianqiang Li
Cucumber green mottle mosaic virus (CGMMV) is an economically important pathogen and causes significant reduction of both yield and quality of cucumber (Cucumis sativus). Currently, there were no satisfied strategies for controlling the disease. A better understanding of microRNA (miRNA) expression related to the regulation of plant-virus interactions and virus resistance would be of great assistance when developing control strategies for CGMMV. However, accurate expression analysis is highly dependent on robust and reliable reference gene used as an internal control for normalization of miRNA expression...
2018: PloS One
Hernan Garcia-Ruiz, Arturo Diaz, Paul Ahlquist
Positive-strand RNA viruses replicate their genomes in membrane-bound replication compartments. Brome mosaic virus (BMV) replicates in vesicular invaginations of the endoplasmic reticulum membrane. BMV has served as a productive model system to study processes like virus-host interactions, RNA replication and recombination. Here we present multiple lines of evidence showing that the structure of the viral RNA replication compartments plays a fundamental role and that recruitment of parental RNAs to a common replication compartment is a limiting step in intermolecular RNA recombination...
March 15, 2018: Viruses
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained...
March 14, 2018: Congenital Anomalies
Dorothea L Floris, Meng-Chuan Lai, Tanmay Nath, Michael P Milham, Adriana Di Martino
Background: The male predominance in the prevalence of autism spectrum disorder (ASD) has motivated research on sex differentiation in ASD. Multiple sources of evidence have suggested a neurophenotypic convergence of ASD-related characteristics and typical sex differences. Two existing, albeit competing, models provide predictions on such neurophenotypic convergence. These two models are testable with neuroimaging. Specifically, the Extreme Male Brain (EMB) model predicts that ASD is associated with enhanced brain maleness in both males and females with ASD (i...
2018: Molecular Autism
Kamal U Zaidi, Sharique A Ali, Ayesha S Ali
Background: Human skin exists in a wide range of different colors and gradations, ranging from white to brown to black. This is due to the presence of a chemically inert and stable pigment known as melanin, which is produced deep inside the skin but is displayed as a mosaic at the surface of the body. Methods & Materials: In mammalian melanocytes, melanosome is a highly specialized organelle where melanin is synthesized. Melanin synthesis is controlled by tyrosinase, the vital enzyme in melanogenic pathway...
2018: Open Medicinal Chemistry Journal
Yannan Zhao, Lilan Luo, Jiesi Xu, Peiyong Xin, Hongyan Guo, Jian Wu, Lin Bai, Guodong Wang, Jinfang Chu, Jianru Zuo, Hong Yu, Xun Huang, Jiayang Li
Programmed cell death (PCD) is a fundamental biological process. Deficiency in MOSAIC DEATH 1 (MOD1), a plastid-localized enoyl-ACP reductase, leads to the accumulation of reactive oxygen species (ROS) and PCD, which can be suppressed by mitochondrial complex I mutations, indicating a signal from chloroplasts to mitochondria. However, this signal remains to be elucidated. In this study, through cloning and analyzing a series of mod1 suppressors, we reveal a comprehensive organelle communication pathway that regulates the generation of mitochondrial ROS and triggers PCD...
March 14, 2018: Cell Research
Hernan Garcia-Ruiz, Sergio M Gabriel Peralta, Patricia A Harte-Maxwell
Plant viruses are inducers and targets of antiviral RNA silencing. To condition susceptibility, most plant viruses encode silencing suppressor proteins that interfere with antiviral RNA silencing. The NSs protein is an RNA silencing suppressor in orthotospoviruses, such as the tomato spotted wilt virus (TSWV). The mechanism of RNA silencing suppression by NSs and its role in virus infection and movement are poorly understood. Here, we cloned and tagged TSWV NSs and expressed it from a GFP-tagged turnip mosaic virus (TuMV-GFP) carrying either a wild-type or suppressor-deficient (AS9) helper component proteinase (HC-Pro)...
March 14, 2018: Viruses
Miyuru Chandradasa, Shehan Williams
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka...
March 13, 2018: Psychiatric Genetics
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
BACKGROUND: We investigated the prevalence of Turner syndrome (TS) in Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. MATERIAL AND METHODS: A retrospective analyses was made in 538 TS girls aged 0.11-18.2 years old within the period of 2005-2015 with detailed examination of 150 patients. RESULTS AND DISCUSSION: The prevalence of TS in Ukraine is 77...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
Dennis F A E Voeten, Jorge Cubo, Emmanuel de Margerie, Martin Röper, Vincent Beyrand, Stanislav Bureš, Paul Tafforeau, Sophie Sanchez
Archaeopteryx is an iconic fossil taxon with feathered wings from the Late Jurassic of Germany that occupies a crucial position for understanding the early evolution of avian flight. After over 150 years of study, its mosaic anatomy unifying characters of both non-flying dinosaurs and flying birds has remained challenging to interpret in a locomotory context. Here, we compare new data from three Archaeopteryx specimens obtained through phase-contrast synchrotron microtomography to a representative sample of archosaurs employing a diverse array of locomotory strategies...
March 13, 2018: Nature Communications
M M Abelleyro, V D Marchione, L Elhelou, C P Radic, L C Rossetti, D Neme, C D De Brasi
No abstract text is available yet for this article.
March 2018: Thrombosis and Haemostasis
Gongti Lai, Peining Fu, Yunxiao Liu, Jiang Xiang, Jiang Lu
RPW8 genes are atypical broad-spectrum genes that provide resistance to powdery mildew, downy mildew, the cauliflower mosaic virus in Arabidopsis thaliana , and powdery mildew in tobacco. They play important roles in basal plant pathogen defense. They also provide insights into a novel disease resistance mechanism. In this study, we report on homologous RPW8 genes in Vitis pseudoreticulata. Five VpRPW8 genes were cloned; their Open Reading Frame (ORF) sequences ranged from 1994 base pairs to 2478 base pairs...
March 13, 2018: International Journal of Molecular Sciences
P K Christova, N K Christov, P V Mladenov, R Imai
Expression of the TaMDC1 in transgenic tomato plants confer resistance to bacterial and fungal pathogens, as well as an insect pest and thus prove in planta function of the wheat cystatin. Cystatins are the polypeptides with cysteine proteinase inhibitory activities. Plant cystatins or phytocystatins are known to contribute to plant resistance against insect pests. Recently, increasing data proved that some of the phytocystatins also have antifungal activities in vitro. Here, we functionally characterized a wheat multidomain cystatin, TaMDC1, using in planta assays...
March 12, 2018: Plant Cell Reports
R Moalla, S Cueff, J Penuelas, B Vilquin, G Saint-Girons, N Baboux, R Bachelet
Epitaxial PbZr0.52 Ti0.48 O3 (PZT) layers were integrated on Si(001) with single PZT {001} orientation, mosaïcity below 1° and a majority of a-oriented ferroelectric domains (∼65%). Ferroelectric and pyroelectric properties are determined along both the out-of-plane and in-plane directions through parallel-plate capacitor and coplanar interdigital capacitor along the <100>PZT direction. A large anisotropy in these properties is observed. The in-plane remnant polarization (21.5 µ ) is almost twice larger than that measured along the out-of-plane direction (13...
March 12, 2018: Scientific Reports
C A Rajabu, G G Kennedy, J Ndunguru, E M Ateka, F Tairo, L Hanley-Bowdoin, J T Ascencio-Ibáñez
Geminiviruses are devastating single-stranded DNA viruses that infect a wide variety of crops in tropical and subtropical areas of the world. Tomato, which is a host for more than 100 geminiviruses, is one of the most affected crops. Developing plant models to study geminivirus-host interaction is important for the design of virus management strategies. In this study, "Florida Lanai" tomato was broadly characterized using three begomoviruses (Tomato yellow leaf curl virus, TYLCV ; Tomato mottle virus, ToMoV; Tomato golden mosaic virus, TGMV) and a curtovirus (Beet curly top virus, BCTV)...
March 9, 2018: Journal of Virological Methods
James Dorrian, Jennifer A Day, Steven W Lin, John R Fenyk, Neal A Foman
No abstract text is available yet for this article.
January 2018: Cutis; Cutaneous Medicine for the Practitioner
Teresa Victoria, Xiaowei Zhu, Ralph Lachman, Monica Epelman, Edward R Oliver, N Scott Adzick, David M Biko
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure...
March 12, 2018: AJR. American Journal of Roentgenology
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