Results 111 to 120 of about 4,949 (187)

Polymorphisms in folate-metabolizing genes, chromosome damage, and risk of Down syndrome in Italian women: identification of key factors using artificial neural networks

BMC Medical Genomics, 2010
Background Studies in mothers of Down syndrome individuals (MDS) point to a role for polymorphisms in folate metabolic genes in increasing chromosome damage and maternal risk for a Down syndrome (DS) pregnancy, suggesting complex gene-gene interactions ...
Migheli Francesca, Grossi Enzo, Coppedè Fabio, Migliore Lucia   +3 more
doaj   +1 more source

Correlation between gene polymorphism and adverse reactions of high-dose methotrexate in osteosarcoma patients: a systematic review and meta-analysis

World Journal of Surgical Oncology
Objective We aimed to provide a reference based on evidence for an individualized clinical medication of high-dose methotrexate (HD-MTX) in osteosarcoma patients by evaluating the effect of gene polymorphism on adverse reactions of HD-MTX usage.
Ben Liu, Gang Liu, Binbin Liu, Yao Guo, Ningning Peng, Tiejun Li   +5 more
doaj   +1 more source

Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway

Italian Journal of Pediatrics, 2019
Background Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So
Chun-Quan Cai, Yu-Lian Fang, Jian-Bo Shu, Lin-Sheng Zhao, Rui-Ping Zhang, Li-Rong Cao, Yi-Zheng Wang, Xiu-Fang Zhi, Hua-Lei Cui, Ou-Yan Shi, Wei Liu   +10 more
doaj   +1 more source

Increase Apparent Public Speaking Fluency By Speech Augmentation

, 2019
Fluent and confident speech is desirable to every speaker. But professional speech delivering requires a great deal of experience and practice. In this paper, we propose a speech stream manipulation system which can help non-professional speakers to ...
Das, Sagnik, Gandhi, Nisha, Naik, Tejas, Shilkrot, Roy   +3 more
core   +1 more source

Câncer de cabeça e pescoço: polimorfismos genéticos e metabolismo do folato Head and neck cancer: genetic polymorphisms and folate metabolism

Brazilian Journal of Otorhinolaryngology, 2012
Evidências epidemiológicas sugerem que variantes genéticas que codificam enzimas envolvidas no metabolismo do folato podem modular o risco de câncer de cabeça e pescoço por alterar a metilação, síntese de DNA e estabilidade genômica.
Ana Lívia Silva Galbiatti, Mariangela Torreglosa Ruiz, José Victor Maniglia, Luis Sérgio Raposo, Érika Cristina Pavarino-Bertelli, Eny Maria Goloni-Bertollo   +5 more
doaj   +1 more source

Optimizing Service Differentiation Scheme with Sized-based Queue Management in DiffServ Networks [PDF]

, 2012
In this paper we introduced Modified Sized-based Queue Management as a dropping scheme that aims to fairly prioritize and allocate more service to VoIP traffic over bulk data like FTP as the former one usually has small packet size with less impact to ...
Madi, Nadim K. M., Othman, Mohamed
core   +1 more source

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

Journal of Neurology
Abstract Objectives The cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients (“idiopathic”), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopathic cases.
David Pellerin, Felix Heindl, Andreas Traschütz, Dan Rujescu, Annette M. Hartmann, Bernard Brais, Henry Houlden, Claudia Dufke, Olaf Riess, Tobias Haack, Michael Strupp, Matthis Synofzik   +11 more
openaire   +4 more sources

The properties of Msh2-Msh6 ATP binding mutants suggest a signal amplification mechanism in DNA mismatch repair. [PDF]

, 2018
DNA mismatch repair (MMR) corrects mispaired DNA bases and small insertion/deletion loops generated by DNA replication errors. After binding a mispair, the eukaryotic mispair recognition complex Msh2-Msh6 binds ATP in both of its nucleotide-binding sites,
Graham, William J, Kolodner, Richard D, Putnam, Christopher D   +2 more
core  

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry

Frontiers in Neuroscience
Background and objectivesThe diseases historically known as neuroacanthocytosis (NA) conditions include VPS13A disease (formerly chorea-acanthocytosis) and XK disease (formerly McLeod syndrome).
Martin Paucar, Martin Paucar, Josephine Wincent, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Kevin Peikert, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Stellan Hertegård, Riita Möller, Riita Möller, Soheir Beshara, Soheir Beshara, Per Svenningsson, Per Svenningsson   +16 more
doaj   +1 more source

Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy

Scientific Reports
Numerous neurological disorders are linked to sequences rich in guanine repeats found in introns, exons, and regulatory regions of genes. These sequences have been observed to form stable G-quadruplex (GQ) structures both in vitro and in vitro ...
Krishna Singh, Sakshi Shukla, Uma Shankar, Neha Jain, Rishav Nag, Kumari Aditi Pramod, Amit Kumar   +6 more
doaj   +1 more source