Results 251 to 260 of about 1,408,208 (397)

Loss of Golga7 Suppresses Oncogenic Nras‐Driven Leukemogenesis without Detectable Toxicity in Adult Mice

Advanced Science, EarlyView.
NRAS mutations are widespread in hematologic malignancies. Our study shows that GOLGA7 serves as a safe and effective therapeutic target for NRAS‐driven leukemia. Loss of Golga7 in adult mice effectively suppresses NrasG12D‐driven myeloproliferative neoplasm by disrupting its PM localization and impairing subsequent MAPK signaling, without affecting ...
Bo Jiao, Lei Yan, Rui Zhang, Wei Huang, Xinru Wang, Chenxuan Liu, Peihong Wang, Pengfei Xu, Jinzeng Wang, Zhou Fang, Donghe Li, Zhizhou Xia, Jiaoyang Li, Shiyu Ji, Qianqian Zhang, Min Wu, Shengyue Wang, Ping Liu, Ruibao Ren   +18 more
wiley   +1 more source

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023
Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler   +17 more
wiley   +1 more source

A computational HLA allele-typing protocol to de-noise and leverage nanopore amplicon data. [PDF]

BMC Genomics
Siddiqui J, Sinha R, Grantham J, LaCombe R, Alonzo JR, Cowden S, Kleiboeker S.   +6 more
europepmc   +1 more source

Curtailed, a new dominant T-allele in the house mouse [PDF]

, 1966
A.G. Searle
openalex   +1 more source

Genome‐Wide Association Studies Reveal the Genetic Architecture of Ionomic Variation in Grains of Tartary Buckwheat

Advanced Science, EarlyView.
In this study, variation and genetic basis of ionome among Tartary buckwheat population are investigated, illuminating their significance in the domestication and diversification of Tartary buckwheat. And three genes (FtACA13 for Na content, FtYPQ1 for Zn content, FtNHX2 for As content) are identified with the dominant haplotypes and functional ...
Zhirong Wang, Yuqi He, Mengyu Zhao, Xiang‐Qian Liu, Hao Lin, Yaliang Shi, Kaixuan Zhang, Guijie Lei, Dili Lai, Tong Liu, Xiaoyang Peng, Jiayue He, Wei Li, Xiangru Wang, Sun‐Hee Woo, Muriel Quinet, Alisdair R. Fernie, Xin‐Yuan Huang, Meiliang Zhou   +18 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

ASSORTATIVE MATING BASED ON PHENOTYPE: I. TWO ALLELES WITH DOMINANCE [PDF]

, 1969
Francesco M. Scudo, Samuel Karlin
openalex   +1 more source

Leveraging Automated Machine Learning for Environmental Data‐Driven Genetic Analysis and Genomic Prediction in Maize Hybrids

Advanced Science, EarlyView.
An automated machine learning framework integrating environmental and genomic data enhances genetic analysis and genomic prediction in maize. By leveraging dimension‐reduced environmental parameters, it reveals trait‐environment relationships and identifies genetic markers that govern phenotypic plasticity and genotype‐by‐environment interactions.
Kunhui He, Tingxi Yu, Shang Gao, Shoukun Chen, Liang Li, Xuecai Zhang, Changling Huang, Yunbi Xu, Jiankang Wang, Boddupalli M. Prasanna, Sarah Hearne, Xinhai Li, Huihui Li   +12 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

THE J SUBSTANCE OF CATTLE. VI. MULTIPLE ALLELES AT THE J LOCUS

, 1962
P. M. Conneally, Jitandrakumar R. Patel, Newton E. Morton, W. H. Stone   +3 more
openalex   +2 more sources