Results 131 to 140 of about 37,179 (261)

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis

Hepatology Research, EarlyView.
ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose, Kota Tsuruya, Yusuke Mishima, Yoshitaka Arase, Koichi Shiraishi, Vu Thi Hao, Satsuki Ieda, Masayuki Tanaka, Sanae Isaki, Tatehiro Kagawa   +9 more
wiley   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Seasonal presence, movements and behaviour of Atlantic cod (Gadus morhua) in Isfjorden, Svalbard

Journal of Fish Biology, EarlyView.
Abstract Atlantification is increasing the inflow of warm, salty Atlantic water into the Arctic region. The fjords on the western coast of Svalbard are experiencing Atlantification, enabling boreal species, such as Atlantic cod (Gadus morhua), to expand their distribution northwards.
Mathilde Oddekalv, Saron Berhe, Larissa T. Beumer, Lotte S. Dahlmo, Gaute Velle, Tormod Haraldstad, Siv Nam Khang Hoff, Sissel Jentoft, Knut Wiik Vollset, Robert J. Lennox   +9 more
wiley   +1 more source

High‐quality genome of elite peanut cultivar ZH05 reveals subgenome asymmetry, pan‐genome diversity, and breeding insights

Journal of Integrative Plant Biology, EarlyView.
A high‐quality reference genome for the elite peanut cultivar Zhonghua No. 5 revealed differing evolutionary paths between the two peanut subgenomes. SubA has higher overall gene expression and more open chromatin, whereas SubB has stronger structural organization, higher DNA methylation, and greater adaptive diversity associated with peanut evolution ...
Taihua Yang, Nian Liu, Li Huang, Jianbin Guo, Xiaomeng Xue, Mingjun Wang, Xiaohan Zhang, Chengtao Quan, Enyou Feng, Jiazhuang Tan, Zhenzhen Zhang, Yu You, Youlin Xia, Dongxin Huai, Yuning Chen, Liyin Yan, Kede Liu, Huifang Jiang, Yong Lei, Boshou Liao   +19 more
wiley   +1 more source

Climate‐driven niche filtering limits post‐dispersal establishment and genomic introgression in a riverine shrub

Journal of Integrative Plant Biology, EarlyView.
Integrated biogeographic analysis and macroecological insights reveal that habitat differences drive genetic differentiation Debregeasia orientalis C. J. Chen, a dominant riparian shrub distributed across multiple biodiversity hotspots, and different lineages vary greatly in adaptability to future climate.
Zeng‐Yuan Wu, Mark A. Chapman, Richard I. Milne, Jie Liu, Ya‐Huang Luo, Peng‐Zhen Fan, Guang‐Fu Zhu, Jason T. Weir, Richard T. Corlett, Xiao‐Gang Fu, Toby P. N. Tsang, Marc W. Cadotte, De‐Zhu Li   +12 more
wiley   +1 more source

A robust biotechnology induces artificial genomic duplication via transient RNAi‐mediated suppression of OSD1 in rice

Journal of Integrative Plant Biology, EarlyView.
Plant Polyploidization via Gene Interference, a robust technology for inducing polyploidy in various rice accessions, uses transient RNAi‐mediated suppression of OSD1 to induce genomic duplication. Two strategies were used to directly induce fertile autotetraploid plants in the first generation, thereby substantially shortening the breeding cycle ...
Zijun Lu, Lianjun Zhu, Guobin Liang, Rou Chen, Yu Huang, Jia Yang, Liang Fu, Xiangxing Zhao, Runze Wu, Xiangdong Liu   +9 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Genome‐wide association study of morphometric and metabolic characteristics in European populations of the sugar kelp Saccharina latissima

Journal of Phycology, EarlyView.
Abstract The sugar kelp Saccharina latissima is a promising candidate for sustainable aquaculture in the North Atlantic and Northeast Pacific, but genetic improvement has been hindered by a limited understanding of the genetic basis of economically important traits.
Stéphane Mauger, Komlan Avia, Lucie Jaugeon, Paolo Ruggeri, Zofia Nehr, Ousseini Issaka Salia, Jérôme Coudret, Emilie Gouhier, Aurélien Baud, Stéphane Loisel, Antoine Fort, Ronan Sulpice, Christophe Destombe, Philippe Potin, J. Mark Cock, Myriam Valero   +15 more
wiley   +1 more source

Phylogenomics of the American robin (Turdus migratorius) reveals hidden lineages and introgression

Journal of Systematics and Evolution, EarlyView.
Phylogenomic analyses of Turdus migratorius uncover four previously unrecognized lineages, including a divergent Baja California lineage (T. m. confinis). The results reveal complex evolutionary relationships that depart from simple models of continuous divergence, supported by evidence of introgression between the Mexican lineage and its previously ...
Wendoly Rojas‐Abreu, Christen M. Bossu, Luz E. Zamudio‐Beltrán, Borja Milá, Kristen Ruegg, Blanca E. Hernández‐Baños   +5 more
wiley   +1 more source