Results 81 to 90 of about 65,383 (280)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Assessment of degree of risk from sources of microbial contamination in cleanrooms; 3: Overall application [PDF]

, 2017
A method of calculating the degree of risk of sources of microbial contamination to products manufactured in cleanrooms has been described in two previous articles. The degree of risk was ascertained by calculating the number of microbes deposited (NMD)
Eaton, T., Whyte, W.
core  

Full QCD on APE100 Machines

, 1993
We present the first tests and results from a study of QCD with two flavours of dynamical Wilson fermions using the Hybrid Monte Carlo Algorithm (HMCA) on APE100 machines.Comment: 23 pages, LaTeX, 13 PS figures not ...
Antonelli, S., Bellacci, M., Donini, A., Sarno, R.   +3 more
core   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Identification of a novel human E-Cadherin splice variant andassessment of its effects upon EMT-related events [PDF]

, 2018
Epithelial Cadherin (E-cadherin) is involved in calcium-dependent cell-cell adhesion and signal transduction. The E-cadherin decrease/loss is a hallmark of Epithelial to Mesenchymal Transition (EMT), a key event in tumor progression.
Besso, María José, Furlong, Laura Ines, Giustina, Silvina, Lapyckyj, Lara, Marin Briggiler, Clara Isabel, Matos, María Laura, Mencucci, Maria Victoria, Rosso, Marina, Vazquez, Monica Hebe   +8 more
core   +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]

, 2016
Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe, A Vral, Anne Vral, Annelot Baert, B Ernestos, Bruce Poppe, D Goldfrank, E Febrer, EKJ Pauwels, EM John, F Cardinale, FJ Couch, Fransiska Malfait, G Sioftanos, GE Pantelias, Gianpaolo Perletti, GJ Heyes, H Nikjoo, I Cousineau, IM Obdeijn, J Barwell, J Depuydt, J Gronwald, J Lecarpentier, JC Drooger, JC Théry, Jenneke van den Ende, JL Bernheim, JM Hair, Julie Depuydt, K Claes, K Claes, K Claes, K Leeneer De, Kathleen B. M. Claes, Katrien Storm, KE Rieger, Kim De Leeneer, KW Caestecker, L Perrin-Vidoz, L Salmena, M Frankenberg-Schwager, M Sedic, ME Dextraze, MS Sasaki, N Andrieu, N Foray, N Li, O Anczuków, O Popanda, P Pfeiffer, P Willems, R Roy, RI Yarden, RJ Linger, S Gutiérrez-Enríquez, S Pathania, SA Narod, Sylvia De Nobele, T Vaclová, TA Buchholz, Tim Van Damme, Tom Van Maerken, U Hagen, V Giannakeas, WD Foulkes, Z Guo, Z Kote-Jarai   +67 more
core   +4 more sources

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN   +15 more
wiley   +1 more source

Genetic Characterization of smg-8 Mutants Reveals No Role in C. elegans Nonsense Mediated Decay [PDF]

, 2012
The nonsense mediated decay (NMD) pathway degrades mRNAs bearing premature translation termination codons. In mammals, SMG-8 has been implicated in the NMD pathway, in part by its association with SMG-1 kinase. Here we use four independent assays to show
Mango, Susan, Rosains, Jacqueline
core   +2 more sources