Search Results

Agricola

Record details

Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization.

• Authors : Masi, Giulia¹; Iacobone, Maurizio²; Sinigaglia, Alessandro^1,3

Subjects: *MISSENSE mutation; *GENE expression; *CELL division

• Source: PLoS ONE. May2014, Vol. 9 Issue 5, p1-10. 10p.

Record details

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency.

• Authors : Pecce, Valeria¹; Sponziello, Marialuisa¹; Damante, Giuseppe²

Subjects: *MISSENSE mutation; *RNA splicing; *TUMOR antigens

• Source: PLoS Genetics. 10/15/2018, Vol. 14 Issue 10, p1-20. 20p.

Record details

Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA.

• Authors : Negron, Christopher¹; Pearlman, David A.¹; del Angel, Guillermo²

Subjects: *BETA lactamases; *MISSENSE mutation

• Source: PLoS ONE. 3/19/2019, Vol. 14 Issue 3, p1-14. 14p.

Record details

A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems.

• Authors : Jr.Zigler, J. Samuel¹; Hodgkinson, Colin A.²; Wright, Megan³

Subjects: *MISSENSE mutation; *KETONIC acids; *KINASES

• Source: PLoS ONE. 7/29/2016, Vol. 11 Issue 7, p1-19. 19p.

Record details

Missense Mutation of POU Domain Class 3 Transcription Factor 3 in Pou3f3L423P Mice Causes Reduced Nephron Number and Impaired Development of the Thick Ascending Limb of the Loop of Henle.

• Authors : Rieger, Alexandra¹; Kemter, Elisabeth²; Kumar, Sudhir²

Subjects: *MISSENSE mutation; *TRANSCRIPTION factors; *LOOP of Henle

• Source: PLoS ONE. 7/15/2016, Vol. 11 Issue 7, p1-31. 31p.

Record details

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.

• Authors : Zhang, Xiaoqing¹; Wang, Jian¹; Wang, Bo¹

Subjects: *CONGENITAL heart disease; *MISSENSE mutation; *TRANSCRIPTION factors

• Source: PLoS ONE. 7/8/2016, Vol. 11 Issue 7, p1-11. 11p.

Record details

Understanding the impacts of missense mutations on structures and functions of human cancer-related genes: A preliminary computational analysis of the COSMIC Cancer Gene Census.

• Authors : Malhotra, Sony¹ ; Alsulami, Ali F.¹; Heiyun, Yang¹

Subjects: *CANCER genes; *MISSENSE mutation; *HUMAN genes

• Source: PLoS ONE. 7/19/2019, Vol. 14 Issue 7, p1-22. 22p.

Record details

Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes.

• Authors : Niazi, Robina Khan¹; Sun, Jihua²; Have, Christian Theil³

Subjects: *MISSENSE mutation; *TYPE 2 diabetes diagnosis; *GLYCOGEN synthesis

• Source: PLoS ONE. 1/10/2019, Vol. 14 Issue 01, p1-12. 12p.

Record details

New Mucolipidoses Findings from University of London Outlined (Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child)

• Source: Obesity, Fitness & Wellness Week. December 8, 2018, 2878

Record details