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Shuiyan Wu, Ting Chen, Ying Li, Linqi Chen, Qiuqin Xu, Fei Xiao, Zhenjiang Bai
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical distal muscular weakness. SMARD1 is caused by loss-of-function mutations in IGHMBP2 gene. In this article, we report a male SMARD1 patient with two compound heterozygous mutations (NM_002180.2: c.688C > G; p.(Gln230Glu)) and (NM_002180.2: c.1737C > A; p.(Phe579Leu)), one of which (c.688C > G; ClinVar accession: SUB3344743: SCV000612189) is novel...
April 11, 2018: European Journal of Medical Genetics
Nicholas E Johnson
The current issue of Neurology® Genetics emphasizes the unparalleled role of next-generation sequencing (NGS) in defining an expanding spectrum of genetic neurologic disorders. Clinically, NGS encompasses the use of large gene panels, whole-exome sequencing (WES), or whole-genome sequencing (WGS). The impact of NGS technology is twofold. First, researchers have discovered novel genes as the cause of neurologic disorders. This research includes the efforts of Martikainen et al.(1) to define further the phenotype of a previously reported SNCA mutation that is associated with autosomal dominant Parkinson disease...
December 2015: Neurology. Genetics
William C Drosopoulos, Settapong T Kosiyatrakul, Carl L Schildkraut
Based on its in vitro unwinding activity on G-quadruplex (G4) DNA, the Bloom syndrome-associated helicase BLM is proposed to participate in telomere replication by aiding fork progression through G-rich telomeric DNA. Single molecule analysis of replicated DNA (SMARD) was used to determine the contribution of BLM helicase to telomere replication. In BLM-deficient cells, replication forks initiating from origins within the telomere, which copy the G-rich strand by leading strand synthesis, moved slower through the telomere compared with the adjacent subtelomere...
July 20, 2015: Journal of Cell Biology
Susan A Gerbi
Using single molecule analysis of replicated DNA (SMARD), Drosopoulos et al. (2015; J. Cell Biol. report that DNA replication initiates at measurable frequency within the telomere of mouse chromosome arm 14q. They demonstrate that resolution of G4 structures on the G-rich template strand of the telomere requires some overlapping functions of BLM and WRN helicase for leading strand synthesis.
July 20, 2015: Journal of Cell Biology
Timsy Uppal, Sagarika Banerjee, Zhiguo Sun, Subhash C Verma, Erle S Robertson
Kaposi's sarcoma associated herpesvirus (KSHV), like other human herpes viruses, establishes a biphasic life cycle referred to as dormant or latent, and productive or lytic phases. The latent phase is characterized by the persistence of viral episomes in a highly ordered chromatin structure and with the expression of a limited number of viral genes. Latency Associated Nuclear Antigen (LANA) is among the most abundantly expressed proteins during latency and is required for various nuclear functions including the recruitment of cellular machineries for viral DNA replication and segregation of the replicated genomes to daughter cells...
December 2014: Viruses
Shirali Patel, Kimberly Watts, Varsha Gharpure
Pediatric Student/Resident Case Report PostersSESSION TYPE: Medical Student/Resident Case ReportPRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PMINTRODUCTION: Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD-1) is a rare and fatal autosomal recessive disorder with only 60 case reports to date1. It is clinically and genetically distinct from classic SMA due to early respiratory distress from diaphragmatic paralysis, symmetrical distal muscle weakness, peripheral sensory neuropathy and autonomic nerve dysfunction...
October 1, 2014: Chest
Wilson Bautista-Molano, Victoria Navarro-Compán, Robert B M Landewé, Maarten Boers, Jamie J Kirkham, Désirée van der Heijde
This study aims to investigate how well the Assessment of SpondyloArthritis international Society (ASAS)/Outcome Measures in Rheumatology Clinical Trials (OMERACT) core set and response criteria for ankylosing spondylitis (AS) have been implemented in randomized controlled trials (RCTs) testing pharmacological and non-pharmacological interventions. A systematic literature search was performed up to June 2013 looking for RCTs in patients with axial spondyloarthritis (SpA) (AS and non-radiographic axial SpA)...
September 2014: Clinical Rheumatology
Russell J Butterfield, Tamara J Stevenson, Lingyan Xing, Tara M Newcomb, Benjamin Nelson, Wenqi Zeng, Xiang Li, Hsiao-Mei Lu, Hong Lu, Kelly D Farwell Gonzalez, Jia-Perng Wei, Elizabeth C Chao, Thomas W Prior, Pamela J Snyder, Joshua L Bonkowsky, Kathryn J Swoboda
OBJECTIVE: We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2 gene. METHODS: Exome sequencing was used to identify a de novo mutation in the LAS1L gene in the proband. Pathogenicity of the mutation was validated using a zebrafish model by morpholino-mediated knockdown of las1l. RESULTS: We identified a de novo mutation in the X-linked LAS1L gene in the proband (p...
April 15, 2014: Neurology
Aziz Majid, Khan Talat, Lumsden Colin, Ross Caroline, Kingston Helen, De Goede Christian
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory distress secondary to diaphragmatic weakness and progressive distal weakness. Sensory and autonomic dysfunctions sometimes accompany the motor weakness. This report describes a male infant with genetically confirmed SMARD1 presenting with onset of disease in the first two weeks of life with respiratory compromise and urinary retention, which has not been reported before and adds to the phenotypic variability of SMARD 1...
September 2012: Journal of Pediatric Neurosciences
William C Drosopoulos, Settapong T Kosiyatrakul, Zi Yan, Simone G Calderano, Carl L Schildkraut
Telomeric and adjacent subtelomeric heterochromatin pose significant challenges to the DNA replication machinery. Little is known about how replication progresses through these regions in human cells. Using single molecule analysis of replicated DNA (SMARD), we delineate the replication programs-i.e., origin distribution, termination site location, and fork rate and direction-of specific telomeres/subtelomeres of individual human chromosomes in two embryonic stem (ES) cell lines and two primary somatic cell types...
April 16, 2012: Journal of Cell Biology
Maria F Messina, Sonia Messina, Michele Gaeta, Carmelo Rodolico, Anna M Salpietro Damiano, Fortunato Lombardo, Giuseppe Crisafulli, Filippo De Luca
Spinal muscular atrophy with respiratory distress (SMARD 1) is a very rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, symmetrical distal muscular weakness, muscle atrophy, peripheral sensory neuropathy and autonomic nerve dysfunction. SMARD 1 is inherited as an autosomal recessive trait and the mutations have been identified in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2), located on chromosome 11q13. It is considered a fatal form of infantile motoneuron disease and most of the patients dies within the first 13 months of life...
January 2012: European Journal of Paediatric Neurology: EJPN
Subhash C Verma, Jie Lu, Qiliang Cai, Settapong Kosiyatrakul, Maria E McDowell, Carl L Schildkraut, Erle S Robertson
Kaposi's sarcoma associated herpesvirus (KSHV), an etiologic agent of Kaposi's sarcoma, Body Cavity Based Lymphoma and Multicentric Castleman's Disease, establishes lifelong latency in infected cells. The KSHV genome tethers to the host chromosome with the help of a latency associated nuclear antigen (LANA). Additionally, LANA supports replication of the latent origins within the terminal repeats by recruiting cellular factors. Our previous studies identified and characterized another latent origin, which supported the replication of plasmids ex-vivo without LANA expression in trans...
November 2011: PLoS Pathogens
Matthew C Pitt
Nerve conduction studies and needle EMG in children under two years of age present a considerable technical challenge to the neurophysiologist. However, with adaptations of both the equipment used and the methods applied, useful results can be obtained in most cases. Normative data exists against which results can be compared exists but are not comprehensive and often the experience of the practitioner is most important for interpretation of the results. Conditions, which are diagnosed fall under the broad categories of disorders of nerve, anterior horn cell, muscle or neuromuscular junction, with certain conditions seen more commonly than in older children...
May 2012: European Journal of Paediatric Neurology: EJPN
Gangping Hao, Jianmei Wang, Renjiu Shi, Xianzhong Zhang
OBJECTIVE: To study the acireductone dioxygenase (designated as SmARD) gene of Salvia miltiorrhiza through bioinformatics and characterization of its tissue expression and response expression on stress in shoot. METHOD: SmARD gene was obtained by sequencing cDNA library constructed by us. BLAST was used for alignment, ORF finder software was applied to find open reading frame, prosite was used to analyze the protein characterization. Semi-quantitative RT-PCR was used to detect the gene expression level...
February 2011: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
Romain Desprat, Danielle Thierry-Mieg, Nathalie Lailler, Julien Lajugie, Carl Schildkraut, Jean Thierry-Mieg, Eric E Bouhassira
The organization of mammalian DNA replication is poorly understood. We have produced high-resolution dynamic maps of the timing of replication in human erythroid, mesenchymal, and embryonic stem (ES) cells using TimEX, a method that relies on gaussian convolution of massive, highly redundant determinations of DNA copy-number variations during S phase to produce replication timing profiles. We first obtained timing maps of 3% of the genome using high-density oligonucleotide tiling arrays and then extended the TimEX method genome-wide using massively parallel sequencing...
December 2009: Genome Research
Ulf-Peter Guenther, Raymonda Varon, Maria Schlicke, Véronique Dutrannoy, Alexander Volk, Christoph Hübner, Katja von Au, Markus Schuelke
Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established. Here we present a retrospective clinical and genetic study to determine the criteria that would predict the presence or absence of IGHMBP2 mutations. From 141 patients with respiratory distress and a spinal muscular atrophy phenotype we recorded the clinical features through a questionnaire and sequenced the entire coding region of IGHMBP2...
August 2007: Human Mutation
Andrew Bush
No abstract text is available yet for this article.
November 2006: Intensive Care Medicine
Paolo Norio, Settapong Kosiyatrakul, Qiaoxin Yang, Zeqiang Guan, Nicholas M Brown, Sharon Thomas, Roy Riblet, Carl L Schildkraut
In mammalian cells, the replication of tissue-specific gene loci is believed to be under developmental control. Here, we provide direct evidence of the existence of developmentally regulated origins of replication in both cell lines and primary cells. By using single-molecule analysis of replicated DNA (SMARD), we identified various groups of coregulated origins that are activated within the Igh locus. These origin clusters can span hundreds of kilobases and are activated sequentially during B cell development, concomitantly with developmentally regulated changes in chromatin structure and transcriptional activity...
November 23, 2005: Molecular Cell
W J Taylor
OBJECTIVE: To develop a consensus based set of core domains for outcome studies in psoriatic arthritis. METHODS: A list of 26 potential domains was prepared through literature review and email discussions amongst the GRAPPA steering committee members and scored by rheumatologists identified through membership of the CASPAR study and the steering committee. Each participant was emailed an up to date review of outcome measures in psoriatic arthritis and asked to distribute 100 points amongst each potential domain...
March 2005: Annals of the Rheumatic Diseases
Paolo Norio, Carl L Schildkraut
In mammalian cells, the activity of the sites of initiation of DNA replication appears to be influenced epigenetically, but this regulation is not fully understood. Most studies of DNA replication have focused on the activity of individual initiation sites, making it difficult to evaluate the impact of changes in initiation activity on the replication of entire genomic loci. Here, we used single molecule analysis of replicated DNA (SMARD) to study the latent duplication of Epstein-Barr virus (EBV) episomes in human cell lines...
June 2004: PLoS Biology
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