Results 231 to 240 of about 1,791,159 (252)

Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I

Endocrine, 2019
Introduction: Bartter syndrome type I (BS1) has been rarely reported in large groups. On the other hand, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been reported to be associated with various diseases ...
Irene Bottillo, Leping Shao, Sai Wang
exaly   +3 more sources

A Common Exonic Variant of Interleukin21 Confers Susceptibility to Atopic Asthma

International Archives of Allergy and Immunology, 2008
Background: Interleukin (IL)-21, an IL-2 family multifunctional cytokine, is produced by activated CD4+ T cells and is known to potentially affect growth, survival and function of numerous immune cells.
Rajshekhar Chatterjee, J. Batra, B. Ghosh   +2 more
semanticscholar   +2 more sources

Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

Human Mutation, 2015
Item does not contain fulltextVariants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing"
N. Bax, R. Sangermano, S. Roosing, A. Thiadens, L. Hoefsloot, L. I. van den Born, Milan Phan, B. Klevering, Carla Westeneng-van Haaften, Terry Braun, M. Zonneveld-Vrieling, I. D. de Wijs, M. Mutlu, E. Stone, A. den Hollander, C. Klaver, C. Hoyng, F. P. Cremers   +17 more
semanticscholar   +2 more sources

The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements [PDF]

Journal of Medical Genetics, 2010
International audienceA large fraction of the sequence variants of unknown significance or unclassified variants (UVs), including exonic variants, could be pathogenic by affecting mRNA splicing.
P. Gaildrat, S. Krieger, J. Thery, A. Killian, Antoine Rousselin, P. Berthet, T. Frebourg, A. Hardouin, A. Martins, M. Tosi   +9 more
semanticscholar   +2 more sources

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Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers

Human Mutation, 2022
Most causal variants of Mendelian diseases are exonic. Whole‐exome sequencing (WES) has become the diagnostic gold standard, but causative variant prioritization constitutes a bottleneck.
Eva Tosco-Herrera, A. Muñoz-Barrera, D. Jáspez, L. A. Rubio-Rodríguez, A. Mendoza-Álvarez, H. Rodríguez-Pérez, J. Jou, Antonio Iñigo-Campos, A. Corrales, L. Ciuffreda, Francisco Martínez-Bugallo, Carol Prieto-Morin, Víctor García-Olivares, R. González-Montelongo, J. Lorenzo-Salazar, Itahisa Marcelino-Rodriguez, C. Flores   +16 more
semanticscholar   +1 more source

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.

Pathology (Sydney), 2021
Citrin deficiency is one of the most common inborn errors of metabolism in East Asians, which may manifest as neonatal cholestasis, failure to thrive and dyslipidaemia, or recurrent hyperammonaemic encephalopathy.
N. Lau, H. Lee, S. Chen, C. W. Ng, C. Mak, Y. Chong, T. Tong, M. Leung, C. Shek, Y. Yuen, C. Ching   +10 more
semanticscholar   +1 more source

A novel exonic variant (221delT) in the LGALS13 gene encoding placental protein 13 (PP13) is associated with preterm labour in a low risk population.

Journal of Reproductive Immunology, 2009
S. Gebhardt, N. Bruiners, Renate Hillermann   +2 more
semanticscholar   +1 more source

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

Journal of Human Genetics, 2022
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto, M. Nakashima, Tomomi Yamaguchi, T. Kosho, T. Ogata, H. Saitsu   +8 more
semanticscholar   +1 more source

Genetic and functional implications of an exonic TRIM55 variant in heart failure

Journal of Molecular and Cellular Cardiology, 2020
Klaus Elenius, Ilkka Paatero, Tero Aittokallio   +2 more
exaly  

Novel exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

Clinica Chimica Acta, 2021
Sun Young Cho, Eunice Yuen Ting Lau, Chi-Kong Lai   +2 more
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