Results 11 to 20 of about 149 (149)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Integrating Dense Genotyping with High‐Throughput Phenotyping Empowers the Genetic Dissection of Berry Quality and Resilience Traits in Grapevine

Advanced Science, EarlyView.
Researchers develop advanced tools to study grapevine traits like berry quality and stress resilience. A 200K SNP array and high‐throughput phenotyping enable the identification of loci linked to berry shape, sugar content, acidity, and cold tolerance. Functional validation of genes such as NAC08 reveals roles in cold tolerance.
Yuyu Zhang, Yongjian Wang, Michael Henke, Pablo Carbonell‐Bejerano, Zemin Wang, Pierre‐François Bert, Yi Wang, Huayang Li, Junhua Kong, Peige Fan, Zhanwu Dai, Zhenchang Liang   +11 more
wiley   +1 more source

Origins, Dispersal, and Impact: Bidirectional Introgression Between Chinese and European Pig Populations

Advanced Science, EarlyView.
This study investigates bidirectional introgression between Chinese and European pig populations, revealing 3558 introgressed genomic segments and 30 structural variations. Analysis of the BMP2 region suggests its role in body size enhancement. By integrating ancient and modern genomes, the study highlights the impact of introgression on genetic ...
Yibin Qiu, Langqing Liu, Min Huang, Donglin Ruan, Rongrong Ding, Zebin Zhang, Enqin Zheng, Shiyuan Wang, Shaoxiong Deng, Xianglun Meng, Xinyan Cheng, Jiaxin Shi, Yingshan Yang, Fuchen Zhou, Sixiu Huang, Huaqiang Yang, Zicong Li, Gengyuan Cai, Zhenfang Wu, Jie Yang   +19 more
wiley   +1 more source

AlphaFold‐Guided Bespoke Gene Editing Enhances Field‐Grown Soybean Oil Contents

Advanced Science, EarlyView.
An AlphaFold‐guided method is developed to functionally optimize soybean sugar transporters and achieve bespoke gene editing of GmSWEET10a/b to improve oil content in an elite soybean cultivar in multi‐year, multi‐site field trials. The combination of AI‐guided protein design and gene editing may unlock a huge potential to improve the genetic trait de ...
Jie Wang, Li Zhang, Shoudong Wang, Xin Wang, Suning Li, Pingping Gong, Mengyan Bai, Arnav Paul, Nathan Tvedt, Hengrui Ren, Maoxiang Yang, Zhihui Zhang, Shaodong Zhou, Jiayi Sun, Xianjin Wu, Huaqin Kuang, Zhenghua Du, Yonghui Dong, Xiaolei Shi, Meina Li, Diwakar Shukla, Long Yan, Yuefeng Guan   +22 more
wiley   +1 more source

Genomic Variation Underpins Genetic Divergence and Differing Salt Resilience in Sesbania bispinosa

Advanced Science, EarlyView.
Sesbania, a leguminous halophyte, thrives in saline soils. Comparative genomics reveals key genomic variations—particularly chromosomal inversions—are identified as contributors to population differentiation and salt resilience. These findings advance the understanding of genomic variation driving evolution and phenotypic differentiation and offer ...
Gai Huang, Xiaofei Wang, Chengli Liu, Kaixuan He, Xiu‐Li Hou, Haofei Luo, Shuaibin Zhang, Changqing You, Yajun Jia, Fuqiang Wang, Xianwei Song, Guodao Liu, Xian Deng, Xiaofeng Cao   +13 more
wiley   +1 more source

Phylogenetic relationships and the identification of allopolyploidy in circumpolar Silene sect. Physolychnis

American Journal of Botany, EarlyView.
Abstract Premise Species complexes are groups of closely related species with ambiguous delimitation, often composed of recently diverged lineages. Polyploidization and uniparental reproduction (i.e., selfing and apomixis) can play important roles in the origin of species complexes. These complexes pose challenges for species‐based scientific questions,
Anne‐Sophie Quatela, Patrik Cangren, Paola de Lima Ferreira, Yannick Woudstra, Andreas Zsoldos‐Skahjem, Christine D. Bacon, Hugo J. de Boer, Bengt Oxelman   +7 more
wiley   +1 more source

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young, Deborah W. Neklason, Kathleen Clark, Bing‐Jian Feng, Megan B. Keener, Thérèse M. Tuohy, Austin Wood, Wendy C. McKinnon, Marc S. Greenblatt, Sean V. Tavtigian   +9 more
wiley   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Genomic Evaluation of Recombination in Small Highly Inbred Beef Cattle Populations

Animal Research and One Health, EarlyView.
The study characterizes recombination in small beef cattle populations, revealing higher rates in CGC composites compared to inbred Line 1 Herefords. It identifies significant SNP associations linked to recombination across various autosomes, highlighting complex polygenic influences, with implications for genetic diversity and breeding strategies ...
E. Hay, A. S. Ling
wiley   +1 more source