Results 271 to 280 of about 1,506,824 (383)

Targeting the Menin–KMT2A interaction in leukemia: Lessons learned and future directions

International Journal of Cancer, EarlyView.
Abstract Chromosomal rearrangements involving the Mixed Lineage Leukemia gene (MLL1, KMT2A) are defining a genetically distinct subset in about 10% of human acute leukemias. Translocations involving the KMT2A‐locus at chromosome 11q23 are resulting in the formation of a chimeric oncogene, where the N‐terminal part of KMT2A is fused to a variety of ...
Florian Perner, Jayant Y. Gadrey, Scott A. Armstrong, Michael W. M. Kühn   +3 more
wiley   +1 more source

Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. [PDF]

Animals (Basel)
Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B.   +6 more
europepmc   +1 more source

Sequential addition of temperature-sensitive missense mutations into the PB2 gene of influenza A transfectant viruses can effect an increase in temperature sensitivity and attenuation and permits the rational design of a genetically engineered live influenza A virus vaccine

, 1995
Kanta Subbarao, E J Park, C M Lawson, A Y Chen, Brian R. Murphy   +4 more
openalex   +1 more source

Absence of alpha‐sarcoglycan and novel missense mutations in the alpha‐sarcoglycan gene in a young British girl with muscular dystrophy [PDF]

, 1997
Rosaline C. M. Quinlivan, S. Robb, Caroline A. Sewry, Victor Dubowitz, F. Piccolo, Kaplan Jc   +5 more
openalex   +1 more source

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome

International Journal of Cancer, EarlyView.
What's New? Lynch syndrome is a prevalent cause of hereditary gynecological cancers, but the timeline of molecular alterations preceding malignancy remains unclear. By studying consecutive surveillance specimens for up to 15 years before cancer diagnosis, the authors found that atypical endometrial hyperplasia was indistinguishable from endometrial and
Anni K. Kauppinen, Alisa P. Olkinuora, Jukka‐Pekka Mecklin, Päivi T. Peltomäki   +3 more
wiley   +1 more source

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy. [PDF]

J Multidiscip Healthc
Dong J, Zhang W, Chen Q, Zha L.
europepmc   +1 more source

New histopathological and molecular findings in gynecological cancers

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This review covers significant developments in the pathological classification of gynecological tumors in recent years. Topics covered include The Cancer Genome Atlas (TCGA) Classification of endometrial carcinomas and how to incorporate this into routine reporting, the fact that most synchronous endometrial and ovarian endometrioid carcinomas
W. Glenn McCluggage
wiley   +1 more source

PRITrans: A Transformer-Based Approach for the Prediction of the Effects of Missense Mutation on Protein-RNA Interactions. [PDF]

Int J Mol Sci
Ge F, Li CF, Zhang CM, Zhang M, Yu DJ.
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

A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci, Sofia Ceffa, Sartor Giovanna, Maria Gnazzo, Antonio Novelli, Antonio La Marca   +5 more
wiley   +1 more source