Results 191 to 200 of about 141,024 (299)

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

The FEBS Journal, EarlyView.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast, Christian Werner, Karsten Niefind, Joachim Jose   +3 more
wiley   +1 more source

A novel <i>de novo IL2RG</i> nonsense mutation in a pediatric patient with X-linked severe combined immunodeficiency. [PDF]

Front Genet
Wang L, Ren A, He Y, Wang L, Wang S, Xie X, Tan M, Chen Y, Huang P, Du Z.   +9 more
europepmc   +1 more source

The clinical spectrum of a nonsense mutation in KAT6A: a case report. [PDF]

J Int Med Res, 2022
Wang D, He J, Li X, Yan S, Pan L, Wang T, Zhou L, Liu J, Peng X.   +8 more
europepmc   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in <i>LAMA3</i> Revealed by 18q11.2 Microdeletion. [PDF]

Int J Mol Sci
Iacoviello M, Piglionica M, Tabaku O, Garganese A, De Marco A, Cardinale F, Bonamonte D, Resta N.   +7 more
europepmc   +1 more source

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Identification and functional characterization of a novel nonsense mutation of <i>CASR</i> gene in a familial hypocalciuric hypercalcemia pedigree. [PDF]

Genes Dis
Tian Y, Liu B, Xudan Y, Qiu R, Shaojun Z, Haoshu H, Fang W, Zheng F.   +7 more
europepmc   +1 more source

A genetic algorithm simheuristic for solving the stochastic project portfolio selection problem with portfolio reliability constraints

International Transactions in Operational Research, EarlyView.
Abstract In response to the increasing complexity of modern products, dynamic markets, and intensified competition, project‐based organizations are actively seeking methodologies to efficiently manage their expanding project portfolios. This paper analyzes the project portfolio selection problem in uncertain environments. Despite recent advances in the
Miguel Saiz, David Lopez‐Lopez, Laura Calvet, Angel A. Juan   +3 more
wiley   +1 more source

Hybrid sorghum breeding in China: A historical review and perspectives

Journal of Integrative Plant Biology, EarlyView.
To commemorate the 60th anniversary of the promotion and application of three‐line hybrid sorghum in China, this review highlights pivotal scientific breakthroughs, systematically summarizes the progress in hybrid sorghum breeding and dwarf sorghum breeding in the country, and presents an outlook on the future of sorghum breeding.
Xiangxiang Meng, Lu Li, Qian Qian, Liang Jiang, Zhaosheng Kong   +4 more
wiley   +1 more source

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy. [PDF]

Drugs R D
Bello L, Riguzzi P, Albamonte E, Astrea G, Battini R, Barp A, Berardinelli AL, Bertini ES, Brolatti N, Bruno C, Corti S, D'Amico A, D'Angelo MG, Dallavalle G, Liguori R, Maggi L, Magri F, Mancuso M, Masson R, Mercuri E, Minetti C, Messina S, Mongini T, Musumeci O, Nigro V, Pane M, Panicucci C, Pedemonte M, Pini A, Politano L, Previtali S, Ricci F, Ricci G, Ruggiero L, Sansone V, Siciliano G, Trabacca A, Trucco F, Velardo D, Pegoraro E, Comi GP.   +40 more
europepmc   +1 more source