Results 161 to 170 of about 537,790 (185)

An intronic variant in the TP53 gene in a Brazilian woman with breast cancer

Cancer Genetics and Cytogenetics, 2005
We screened the TP53 gene for mutational status in 40 breast tumor cases by polymerase chain reaction, single-strand conformational polymorphism, and gene sequencing. Many mutations of this gene have been described in specific databases. In our study, a new T-->C point mutation was identified in intron 6 at position 13989 in a grade III medullary ...
Leandra Linhares, Lacerda, Sergio Vicente, Serrano, Angelo, Mathes, Juan A, Rey, Maria Josefa, Bello, Cacilda, Casartelli   +5 more
openaire   +2 more sources

Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

Epilepsy Research, 2011
The KCNAB1 gene is a candidate susceptibility factor for lateral temporal epilepsy (LTE) because of its functional interaction with LGI1, the gene responsible for the autosomal dominant form of LTE. We investigated association between polymorphic variants across the KCNAB1 gene and LTE.
Giorgia Busolin, Sandro Malacrida, Francesca Bisulli, Pasquale Striano, Carlo Di Bonaventura, Gabriella Egeo, Elena Pasini, Vittoria Cianci, Edoardo Ferlazzo, Amedeo Bianchi, Giangennaro Coppola, Maurizio Elia, MECARELLI, Oriano, Giuseppe Gobbi, Susanna Casellato, Marco Marchini, Simona Binelli, Elena Freri, Tiziana Granata, Annio Posar, Antonia Parmeggiani, Piernanda Vigliano, Clementina Boniver, Umberto Aguglia, Salvatore Striano, Paolo Tinuper, GIALLONARDO, Anna Teresa, Roberto Michelucci, Carlo Nobile   +28 more
openaire   +6 more sources

Intronic sequence variants of the CDKN2A gene in melanoma pedigrees

Genes, Chromosomes and Cancer, 2005
AbstractGerm‐line mutations of the tumor‐suppressor gene CDKN2A predispose individuals to melanoma in families worldwide. However, coding mutations of CDKN2A have not been detected in a significant proportion of those affected. The identification of a disease‐associated intronic mutation of CDKN2A in UK families, which has proved to be the most common ...
Mark, Harland, Claire F, Taylor, Sylvia, Bass, Michael, Churchman, Juliette A, Randerson-Moor, Elizabeth A, Holland, Graham J, Mann, D Timothy, Bishop, Julia A, Newton Bishop   +8 more
openaire   +2 more sources

Association of intron 1 variants of the dopamine transporter gene with schizophrenia

Neuroscience Letters, 2012
The dopamine transporter (DAT1) gene has been implicated in the pathogenesis of many neuropsychiatric disorders, including schizophrenia. The present study aimed to investigate association of the DAT1 gene polymorphisms with schizophrenia in a Han Chinese population.
Chunming, Zheng, Yan, Shen, Qi, Xu
openaire   +2 more sources

Intron retention as an alternative splice variant of the cattle ANGPTL6 gene

Gene, 2019
Angiopoietin-like protein 6, which is encoded by ANGPTL6 gene (also known as angiopoietin growth factor, AGF), has been extensively characterized with regard to its proposed functions as angiogenesis and energy metabolism. The present results showed the occurrence of alternative splicing by intron retention (IR) event in the bovine ANGPTL6 gene ...
Jiyao Wu, Aimin Li, Hanfang Cai, Chenge Zhang, Chuzhao Lei, Xianyong Lan, Hong Chen   +6 more
openaire   +2 more sources

An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development

Neuroscience Bulletin, 2021
Bo Yuan, Yuejun Chen, Zilong Qiu
exaly  

Deeper understanding of unclassified intronic variants and ESEs

Human Mutation, 2010
openaire   +3 more sources

A common benign intronic deletion masking a pathogenic deep intronic variant - genome sequencing and RNA studies to the rescue

Molecular Genetics and Metabolism, 2023
Alina Kurolap, Adi Mory, Hagit Baris Feldman   +2 more
exaly  

Intronic variants and splicing errors in cardiovascular diseases

Heart Rhythm, 2009
openaire   +2 more sources

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Molecular Genetics and Metabolism Reports, 2021
Sandesh C S Nagamani, Runjun Kumar, Cynthia LeMons   +2 more
exaly