Results 121 to 130 of about 1,791,159 (252)

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease

BMC Medical Informatics and Decision Making, 2017
Background Rapid advancement of next generation sequencing technologies such as whole genome sequencing (WGS) has facilitated the search for genetic factors that influence disease risk in the field of human genetics.
Dokyoon Kim, Anna O. Basile, Lisa Bang, Emrin Horgusluoglu, Seunggeun Lee, Marylyn D. Ritchie, Andrew J. Saykin, Kwangsik Nho   +7 more
doaj   +1 more source

GEVACT: Genomic Variant Classifier Tool

, 2015
High throughput screening (HTS) techniques, like mendeliome, whole exomeand genome screening, are becoming a routine in a clinical diagnosticsetting. However, classifying the identified genomic variants as benign or(likely) pathogenic, is still a tedious
Farid, D., Bonduelle, M.L., Nowé, A., Van Dooren, S., Bonduelle, M., Farid, D.M., Croes, D., Bonduelle , M., Sengupta, D., Daneels, D., Grau, I.   +10 more
core  

LRRK2 exonic variants and risk of multiple system atrophy.

, 2014
OBJECTIVE: The aim of this study was to evaluate the association between common exonic variants in the leucine-rich repeat kinase 2 (LRRK2) gene and risk of multiple system atrophy (MSA).
Holton, Janice L., Rayaprolu, Sruti, Dickson, Dennis W., Schottlaender, Lucia, Farrer, Matthew J, Murray, Melissa E, Ross, Owen A., Singleton, Andrew B, Ross, Owen A, Soto-Ortolaza, Alexandra I, Al-Sarraj, Safa, Wszolek, Zbigniew K., Aoife, Kiely, Farrer, Matthew J., Singleton, Andrew B., Troakes, Claire, Sailer, Anna, Gentleman, Steve M., Heckman, Michael G., Keogh, Michael J, Uitti, Ryan J., Heckman, Michael G, Soto-Ortolaza, Alexandra I., Fujioka, Shinsuke, Uitti, Ryan J, Holton, Janice L, Keogh, Michael J., Diehl, Nancy N, Ogaki, Kotaro, Cheshire, William P, Houlden, Henry, Chinnery, Patrick F., Dickson, Dennis W, Wszolek, Zbigniew K, Murray, Melissa E., Cheshire, William P., Gentleman, Steve M, Mann, David M A, Diehl, Nancy N., Troakes, Claire; id_orcid, Chinnery, Patrick F   +40 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Alternative splicing of the OCC-1 gene generates three splice variants and a novel exonic microRNA, which regulate the Wnt signaling pathway

RNA: A publication of the RNA Society, 2017
The Wnt signaling pathway is hyperactivated in most colorectal cancers (CRC). Finding new regulators of this pathway represents the potential for cancer diagnosis or treatment.
H. Najafi, B. Soltani, Sadat Dokanehiifard, S. Nasiri, S. Mowla   +4 more
semanticscholar   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Shared Genetic Pathways Linking Oral Diseases to Gastrointestinal Disorders: An Integrative Multi‐Omics Study

iMetaMed, EarlyView.
Shared genetics pathways connect oral diseases and gut disorders. ABSTRACT Oral diseases are highly prevalent and increasingly recognized as contributors to gastrointestinal disorders. Despite clinical observations of oral–gut comorbidity, the underlying genetic architecture and causal mechanisms remain poorly understood.
Rui Zhang, Yuelan Gao, Yuyang Zhao, Wanyang Zhong, Xingxiang Duan, Yan He, Qingsong Ye   +6 more
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

Infection mechanisms of Rhizoctonia cerealis in wheat

iMeta, EarlyView.
We discover that R. cerealis (Rc) is a primary pathogen causing sharp eyespot of wheat after 335 distinct isolates were isolated from 1683 SE‐diseased wheat plants across China over 7 years using a single hyphal tip isolation method. We then generated high‐quality reference genomes via de novo sequencing of five representative Rc isolates and ...
Yan Ren, Ti Liu, Heying Zhao, Qirun Qian, Lufei Cui, Zhipeng Sun, Wenkai Yang, Peng Guo, Sisheng Wang, Lingran Zhang, Congwei Sun, Aolin Jia, Ning Zhang, Feng Chen   +13 more
wiley   +1 more source

Mechanism of RNA‐Binding Protein ELAVL1 in Promoting Th2 Cell Differentiation Through Stabilizing CPA3 mRNA in Allergic Rhinitis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT This study aimed to elucidate the role of the RNA‐binding protein embryonic lethality abnormal vision‐like protein 1 (ELAVL1) in the pathogenesis of allergic rhinitis (AR), specifically by investigating its potential to promote T helper 2 (Th2) cell differentiation by regulating the stability of carboxypeptidase A3 (CPA3) mRNA.
Meng‐Ya Liu, Hong‐Bing Yao, Cheng Chen   +2 more
wiley   +1 more source