Results 41 to 50 of about 1,791,159 (252)

A Systematic Analysis of Protein-altering Exonic Variants in Chronic Obstructive Pulmonary Disease.

American Journal of Physiology - Lung cellular and Molecular Physiology, 2021
Genome-wide association studies (GWASs) have identified regions associated with chronic obstructive pulmonary disease (COPD). GWASs of other diseases have shown an approximately 10-fold overrepresentation of nonsynonymous variants, despite limited exonic
M. Moll, V. Jackson, Bing Yu, M. Grove, S. London, Sina A. Gharib, T. Bartz, C. Sitlani, J. Dupuis, G. O'Connor, Han-Fei Xu, P. Cassano, B. Patchen, W. Kim, Jinkyeong Park, K. Kim, B. Han, R. Barr, A. Manichaikul, Jennifer N. Nguyen, S. Rich, L. Lahousse, N. Terzikhan, G. Brusselle, P. Sakornsakolpat, Jiang-Yuan Liu, Christopher J. Benway, I. Hall, M. Tobin, L. Wain, E. Silverman, M. Cho, B. Hobbs   +32 more
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Genetic and functional implications of an exonic TRIM55 variant in heart failure.

Journal of Molecular and Cellular Cardiology, 2019
BACKGROUND To tackle the missing heritability of sporadic heart failure, we screened for novel heart failure-associated genetic variants in the Finnish population and functionally characterized a novel variant in vitro and in vivo.
J. Heliste, H. Chheda, I. Paatero, T. Salminen, Y. Akimov, J. Paavola, K. Elenius, T. Aittokallio   +7 more
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Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

Journal of Medical Genetics, 2016
Background So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to ...
E. V. van Leeuwen, A. Sabo, J. Bis, Jennifer E. Huffman, A. Manichaikul, A. Smith, M. Feitosa, S. Demissie, Peter K. Joshi, Q. Duan, J. Marten, J. V. van Klinken, I. Surakka, I. Nolte, Wei-Hua Zhang, H. Mbarek, R. Li-Gao, S. Trompet, N. Verweij, E. Evangelou, L. Lyytikäinen, B. Tayo, J. Deelen, P. J. van der Most, S. W. van der Laan, D. Arking, A. Morrison, A. Dehghan, O. Franco, A. Hofman, F. Rivadeneira, E. Sijbrands, A. Uitterlinden, J. Mychaleckyj, A. Campbell, L. Hocking, S. Padmanabhan, J. Brody, K. Rice, Charles C. White, T. Harris, A. Isaacs, H. Campbell, L. Lange, I. Rudan, I. Kolčić, Pau Navarro, T. Zemunik, V. Salomaa, Angad S. Kooner, J. Kooner, B. Lehne, W. Scott, Sian-Tsung Tan, E. D. de Geus, Y. Milaneschi, B. Penninx, G. Willemsen, R. de Mutsert, I. Ford, R. Gansevoort, Marcelo P. Segura-Lepe, O. Raitakari, J. Viikari, K. Nikus, Terrence Forrester, C. Mckenzie, A. D. de Craen, Hester M. de Ruijter, G. Pasterkamp, H. Snieder, A. Oldehinkel, P. Slagboom, R. Cooper, M. Kähönen, T. Lehtimäki, P. Elliott, P. van der Harst, J. Jukema, D. Mook-Kanamori, D. Boomsma, J. Chambers, M. Swertz, S. Ripatti, K. Willems van Dijk, V. Vitart, O. Polašek, C. Hayward, James G. Wilson, James F. Wilson, V. Gudnason, S. Rich, B. Psaty, I. Borecki, E. Boerwinkle, J. Rotter, L. Cupples, C. M. van Duijn   +97 more
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Quantitative prediction of variant effects on alternative splicing in MAPT using endogenous pre-messenger RNA structure probing

eLife, 2022
Splicing is highly regulated and is modulated by numerous factors. Quantitative predictions for how a mutation will affect precursor mRNA (pre-mRNA) structure and downstream function are particularly challenging.
Jayashree Kumar, Lela Lackey, Justin M. Waldern, Abhishek Dey, Anthony M. Mustoe, K. Weeks, D. Mathews, A. Laederach   +7 more
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An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

Journal of Cellular and Molecular Medicine, 2021
Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%‐30%) presenting a rare large‐effect variant. However, clinical interpretation in these cases is often complicated by
Cinzia Cameli, Marta Viggiano, M. Rochat, A. Maresca, L. Caporali, Claudio Fiorini, Flavia Palombo, P. Magini, Renée C Duardo, F. Ceroni, M. Scaduto, A. Posar, M. Seri, V. Carelli, Paola Visconti, E. Bacchelli, E. Maestrini   +16 more
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An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Annals of Clinical and Translational Neurology, 2023
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun, Zhiying Xie, Lu Cong, Yan Xu, Zunjing Liu   +4 more
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Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson’s Disease

Parkinson's Disease, 2017
Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson’s disease, though there are still discrepancies among these results.
Ya-Chao He, Pei Huang, Qiong-Qiong Li, Qian Sun, Dun-Hui Li, Tian Wang, Jun-Yi Shen, Juan-Juan Du, Shi-Shuang Cui, Chao Gao, Rao Fu, Sheng-Di Chen   +11 more
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Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function

Scientific Reports, 2021
Genome-wide association studies have identified numerous common genetic variants associated with spirometric measures of pulmonary function, including forced expiratory volume in one second (FEV1), forced vital capacity, and their ratio.
Tianzhong Yang, V. Jackson, A. Smith, Han Chen, T. Bartz, C. Sitlani, B. Psaty, S. Gharib, G. O'Connor, J. Dupuis, Jiayi Xu, K. Lohman, Yong-Mei Liu, S. Kritchevsky, P. Cassano, C. Flexeder, C. Gieger, S. Karrasch, A. Peters, H. Schulz, S. Harris, J. Starr, I. Deary, A. Manichaikul, E. Oelsner, R. Barr, K. Taylor, S. Rich, T. Bonten, D. Mook-Kanamori, R. Noordam, R. Li-Gao, M. Jarvelin, M. Wielscher, N. Terzikhan, L. Lahousse, G. Brusselle, S. Weiss, R. Ewert, S. Gläser, G. Homuth, N. Shrine, I. Hall, M. Tobin, S. London, P. Wei, A. Morrison   +46 more
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Novel Ultra-Rare Exonic Variants Identified in a Founder Population Implicate Cadherins in Schizophrenia

medRxiv, 2020
IMPORTANCE: Schizophrenia is a serious mental illness with high heritability. While common genetic variants account for a portion of the heritability, identification of rare variants associated with the disorder has proven challenging.
T. Lencz, Jin Yu, R. Khan, E. Flaherty, S. Carmi, Max W. Y. Lam, D. Ben-Avraham, N. Barzilai, S. Bressman, A. Darvasi, Judy H. Cho, Lorraine Clark, Z. Gümüş, J. Vijai, R. Klein, S. Lipkin, K. Offit, H. Ostrer, L. Ozelius, I. Peter, A. Malhotra, Tom Maniatis, G. Atzmon, I. Pe’er   +23 more
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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

npj Genomic Medicine, 2022
Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorithm.
R. Romero, L. M. de la Fuente, M. Del Pozo-Valero, R. Riveiro-Alvarez, M. Trujillo-Tiebas, I. Martín-Mérida, A. Ávila-Fernández, I. Iancu, I. Perea-Romero, Gonzalo Núñez-Moreno, Alejandra Damián, C. Rodilla, B. Almoguera, M. Cortón, C. Ayuso, P. Mínguez   +15 more
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