Results 91 to 100 of about 3,165 (187)

Comprehensive mismatch repair gene panel identifies variants in patients with Lynch‐like syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) associated cancer, where a causative variant was ...
Alexandre Xavier, Maren Fridtjofsen Olsen, Liss A. Lavik, Jostein Johansen, Ashish Kumar Singh, Wenche Sjursen, Rodney J. Scott, Bente A. Talseth‐Palmer   +7 more
doaj   +1 more source

RFC1 gene intronic repeat expansion and unexplained chronic cough: A pathophysiological conundrum

, 2021
International audienceTake home message: RFC1 gene intronic expansions as a cause of isolated chronic ...
Echaniz-Laguna, A., Humbert, M., Fargeot, Guillaume, G. Fargeot, A. Echaniz-Laguna, M. Humbert   +5 more
core   +1 more source

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

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.
Traschütz, A, Houlden, H, Heindl, F, Brais, B, Hartmann, AM, Strupp, M, Synofzik, M, Dufke, C, Haack, T, Rujescu, D, Riess, O, Pellerin, D   +11 more
core   +1 more source

Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only

Brazilian Journal of Medical and Biological Research, 2008
In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa.
A.R. Vieira, M.E. Cooper, M.L. Marazita, E.E. Castilla, I.M. Orioli   +4 more
doaj  

3D structure prediction of replication factor C subunits (RFC) and their interactome in Arabidopsis thaliana [PDF]

Network Biology, 2013
DNA stress can causes potentially spontaneous genome damage during DNA replication process. Proteins involved in this process are DNA-dependent ATPases, required for replication and repair.
Mohamed Ragab Abdel Gawwad, Jasmin Sutkovic, Emina Zahirovic, et al.   +2 more
doaj  

Survival curves plotted by Kaplan-Meier analysis according to RFC1 80G>A genotypes and mCyt levels.

, 2016
RFC1 80AA patients with low mCyt levels (≤5.34%) were associated to a lower survival as compared to carriers of the RFC1 80G allele (71.1%) (pRFC1 80G carriers and RFC1 80AA with high mCyt (>5.34%) was not statistically significant (p = 0.919), as it was
Andrea Ruzzenente (432702), Sang-Woon Choi (784598), Patrizia Guarini (42983), Simone Conci (3390632), Francesca Pizzolo (42976), Sara Moruzzi (3390635), Simonetta Friso (42977), Filippo Mazzi (3390644), Silvia Udali (3390641), Patrizia Pattini (266200), Oliviero Olivieri (42975), Alfredo Guglielmi (432708), Stephanie A. Tammen (3390638), Nicola Martinelli (42974)   +13 more
core   +1 more source

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

, 2023
INTRODUCTION: Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular ...
Lavin, Timothy, Gary, Alexander, Novis De Farias, Luiz Eduardo, Reilly, Mary M, Vegezzi, Elisa, Polke, James, Dominik, Natalia, Quartesan, Ilaria, Tawde, Sanjukta, Das, Soma, Perini, Cecilia, Delfeld, Megan, Stuart, Skye, Tucci, Arianna, Niu, Nifang, Wood, Nick W, El-Saddig, Amar, Cortese, Andrea, Kandikatla, Priscilla, Gomez, Christopher, Facchini, Stefano, Helen Chen, Jin Yun, Ronco, Riccardo, Nagy, Sara, Crespan, Emmanuele, Schmahmann, Jeremy Dan, Houlden, Henry, Shaw, Joseph, Gennari, Alice, Gosal, David, Simone, Roberto, Currò, Riccardo, Szymura, Agnieszka   +32 more
core  

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

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

RFC1 80G>A genotypes frequencies in primary liver cancer patients (n = 47).

, 2016
RFC1 80G>A genotypes frequencies in primary liver cancer patients (n = 47).
Andrea Ruzzenente (432702), Sang-Woon Choi (784598), Patrizia Guarini (42983), Simone Conci (3390632), Francesca Pizzolo (42976), Sara Moruzzi (3390635), Simonetta Friso (42977), Filippo Mazzi (3390644), Silvia Udali (3390641), Patrizia Pattini (266200), Oliviero Olivieri (42975), Alfredo Guglielmi (432708), Stephanie A. Tammen (3390638), Nicola Martinelli (42974)   +13 more
core   +1 more source