Results 51 to 60 of about 11,897 (169)

NLSS3 Impairs SHM1 Autophagic Degradation to Regulate Leaf Morphology and Salt Tolerance in Rice

Advanced Science, EarlyView.
In rice, NLSS3 binds and shields SHM1 from autophagic degradation to maintain serine homeostasis. The A132P mutation in nlss3 disrupts this, triggering SHM1 loss, metabolic dysfunction, K+ imbalance, and impaired ROS scavenging, which collectively drive narrow leaves and salt sensitivity.
Xiong Liu, Yulu Yang, Zhiqi Hao, Jing Xu, Huibo Zhao, Qiang Zhang, Deyong Ren, Xia Li, Guojun Dong, Lan Shen, Li Zhu, Jiang Hu, Zhenyu Gao, Qing Li, Qian Qian, Guangheng Zhang   +15 more
wiley   +1 more source

Variants in the Upstream Region of the Insulin Receptor Substrate-1 Gene Is Associated with Major Depressive Disorder in the Han Chinese Population

Neuropsychiatric Disease and Treatment, 2020
Fan Wang,1,2 Shunying Yu,3 Rubai Zhou,1 Ruizhi Mao,1 Guoqing Zhao,1,4 Xiaoyun Guo,1 Qingqing Xu,3 Jun Chen,1 Chen Zhang,1 Yiru Fang1,5,6 1Division of Mood Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine ...
Wang F, Yu S, Zhou R, Mao R, Zhao G, Guo X, Xu Q, Chen J, Zhang C, Fang Y   +9 more
doaj  

Genetic variation at the FADS1-FADS2 gene locus influences delta-5 desaturase activity and LC-PUFA proportions after fish oil supplement[S]

Journal of Lipid Research, 2013
Delta-5 and delta-6 desaturases (D5D and D6D) are key enzymes in endogenous synthesis of long-chain PUFAs. In this sample of healthy subjects (n = 310), genotypes of single nucleotide polymorphisms (SNPs) rs174537, rs174561, and rs3834458 in the FADS1 ...
Maryam Al-Hilal, Aseel AlSaleh, Zoitsa Maniou, Fiona J. Lewis, Wendy L. Hall, Thomas A.B. Sanders, Sandra D. O'Dell   +6 more
doaj   +1 more source

Steelhead (Oncorhynchus mykiss) lineages and sexes show variable patterns of association of adult migration timing and age‐at‐maturity traits with two genomic regions

Evolutionary Applications, 2020
As life history diversity plays a critical role in supporting the resilience of exploited populations, understanding the genetic basis of those life history variations is important for conservation management.
Stuart C. Willis, Jon E. Hess, Jeff K. Fryer, John M. Whiteaker, Chris Brun, Ryan Gerstenberger, Shawn R. Narum   +6 more
doaj   +1 more source

The Spatiotemporal Genetic Architecture of Seed Vigor in Upland Cotton

Advanced Science, EarlyView.
Leveraging the semi‐automated SeedRanger platform, we profiled the germination kinetics of 356 cotton accessions at a 30‐min interval. This high‐throughput phenomic approach delineated a temporal genetic network comprising 541 stage‐specific loci. Crucially, functional validation identified FLA2 as a pivotal, auxin‐modulated regulator that orchestrates
Luyao Wang, Jie Dai, Ting Zhao, Shengjun Zhao, Hongyu Wu, Jiaying Pan, Yupeng Hao, Ke Nie, Li Yu, Yumeng Zhu, Xiangyi Zhao, Kai Huang, Mengke Zhang, Yongyan Zhao, Yaping Jiang, Siyuan Wang, Yiling Pan, Yubing Chen, Yilai Lin, Wanghong Shi, Yayuan Deng, Jin Han, Jie Li, Xuan Long, Junbin Wang, Zhiyuan Zhang, Zegang Han, Zhanfeng Si, Lei Ju, Jun Li, Tianzhen Zhang, Ji Zhou, Xueying Guan   +32 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

eLife, 2016
Targeted sequencing of sixteen SLE risk loci among 1349 Caucasian cases and controls produced a comprehensive dataset of the variations causing susceptibility to systemic lupus erythematosus (SLE). Two independent disease association signals in the HLA-D
Prithvi Raj, Ekta Rai, Ran Song, Shaheen Khan, Benjamin E Wakeland, Kasthuribai Viswanathan, Carlos Arana, Chaoying Liang, Bo Zhang, Igor Dozmorov, Ferdicia Carr-Johnson, Mitja Mitrovic, Graham B Wiley, Jennifer A Kelly, Bernard R Lauwerys, Nancy J Olsen, Chris Cotsapas, Christine K Garcia, Carol A Wise, John B Harley, Swapan K Nath, Judith A James, Chaim O Jacob, Betty P Tsao, Chandrashekhar Pasare, David R Karp, Quan Zhen Li, Patrick M Gaffney, Edward K Wakeland   +28 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source