Results 1 to 10 of about 517,834 (299)

Copy number variants in Ebstein anomaly. [PDF]

PLoS ONE, 2017
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills   +10 more
doaj   +4 more sources

Copy number variants in the kallikrein gene cluster. [PDF]

PLoS ONE, 2013
The kallikrein gene family (KLK1-KLK15) is the largest contiguous group of protease genes within the human genome and is associated with both risk and outcome of cancer and other diseases.
Pernilla Lindahl, Torbjörn Säll, Anders Bjartell, Anna M Johansson, Hans Lilja, Christer Halldén   +5 more
doaj   +7 more sources

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study [PDF]

Annals of Clinical and Translational Neurology
Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood.
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
doaj   +2 more sources

Impact of constitutional copy number variants on biological pathway evolution [PDF]

BMC Evolutionary Biology, 2013
Background Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations.
Poptsova Maria, Banerjee Samprit, Gokcumen Omer, Rubin Mark A, Demichelis Francesca   +4 more
doaj   +4 more sources

Influence of DEFB4 copy number variants on gene expression in monocytes [PDF]

BMC Research Notes
Objective Beta-defensins, a group of antimicrobial peptides that can modulate immune response, are encoded by genes (DEFBs) on chromosome 8p23.1, a region subject to copy number variations (CNVs).
Xianghong Zhang, Tingting Wen, Christoph Lippuner, Marcel Schiff, Frank Stuber   +4 more
doaj   +2 more sources

A comprehensive analysis of copy number variation in a Turkish dementia cohort

Human Genomics, 2021
Background Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases.
Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Jose Bras, Rita Guerreiro   +11 more
doaj   +1 more source

Copy Number Variants in Four Italian Turkey Breeds

Animals, 2021
Heritage breeds can be considered a genetic reservoir of genetic variability to be conserved and valorized considering their historical, cultural, and adaptive characteristics and possibly for their high potential in commercial hybrid genetic improvement
Maria Giuseppina Strillacci, Stefano Paolo Marelli, Raffaella Milanesi, Luisa Zaniboni, Chiara Punturiero, Silvia Cerolini   +5 more
doaj   +1 more source

Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]

, 2020
Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena, Bannasch, Danika, Grahn, Robert, Kallenberg, Angelica, Rebhun, Robert, Weich, Kalie, York, Daniel   +6 more
core   +2 more sources

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes

Frontiers in Genetics, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing, Yue Xing, Yue Xing, Alan R. Dabney, Xiao Li, Guosong Wang, Clare A. Gill, Claudio Casola   +7 more
doaj   +1 more source

Identification of copy number variants contributing to hallux valgus

Frontiers in Genetics, 2023
Hallux valgus is a common form of foot deformity, and genetic factors contribute substantially to the pathogenesis of hallux valgus deformity. We conducted a genetic study on the structural variants underlying familial hallux valgus using whole exome ...
Wentao Zhou, Jun Jia, Hui-Qi Qu, Feier Ma, Junyi Li, Xiaohui Qi, Xinyi Meng, Zhiyong Ding, Gang Zheng, Hakon Hakonarson, Hakon Hakonarson, Hakon Hakonarson, Xiantie Zeng, Jin Li, Qianghua Xia, Qianghua Xia   +15 more
doaj   +1 more source