Results 211 to 220 of about 132,731 (277)

A Rare Frameshift Mutation of in <i>CmACS7</i> Alters Ethylene Biosynthesis and Determines Fruit Morphology in Melon (<i>Cucumis melo</i> L.). [PDF]

Plants (Basel)
Zhou J, Ma X, Deng Q, Zhong Z, Ning X, Zhong L, Zhang X, Wang X.   +7 more
europepmc   +1 more source

Frameshift Mutations and the Genetic Code

Cold Spring Harbor Symposia on Quantitative Biology, 1966
G. Streisinger, Y. Okada, J. Emrich, J. Newton, A. Tsugita, E. Terzaghi, M. Inouye   +6 more
openaire   +1 more source

Refining Tumor Mutational Burden as a Predictive Biomarker for Pembrolizumab: A Real‐World Analysis in Japanese Patients

Cancer Science, EarlyView.
In this study, we investigated the predictive value of tumor mutational burden (TMB) for assessing the efficacy of pembrolizumab in a Japanese cohort. We analyzed real‐world data from 63,952 patients registered in the C‐CAT database who underwent comprehensive genomic profiling, and evaluated the therapeutic efficacy of pembrolizumab in 1899 of these ...
Tomoyo Yasuda, Mio Yumura, Azusa Hamasaki, Tongyi Fei, Takashi Kubo, Hitoshi Ichikawa, Takashi Kohno, Kuniko Sunami   +7 more
wiley   +1 more source

The mutational spectrum of NRAS gene discovers a novel frameshift mutation (E49R) in Saudi colorectal cancer patients. [PDF]

Cancer Cell Int
Rasool M, Haque A, Alharthi M, Sibiany A, Alamri MS, Alqarni SMH, Rather IA, Chaudhary AG, Karim S, Pushparaj PN.   +9 more
europepmc   +1 more source

Genomic Profiling in Localized Prostate Cancer: Associations With Biochemical Recurrence and Response to Salvage Radiotherapy

Cancer Science, EarlyView.
Early screening for somatic alterations in localized prostate cancer could help predict biochemical recurrence risk and optimize salvage therapy selection. ABSTRACT The clinical significance of comprehensive genomic profiling (CGP) has been established in metastatic castration‐resistant prostate cancer (PC).
Kenji Zennami, Tetsuya Takimoto, Takuhisa Nukaya, Makoto Sumitomo, Mayu Takeda, Eiji Sugihara, Hideyuki Saya, Ryoichi Shiroki   +7 more
wiley   +1 more source

Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet-Biedl Syndrome with Rod-Cone Dystrophy: A Case Report. [PDF]

Korean J Ophthalmol
Heo J, Jeong YH, Park SW, Byon I, Kwon HJ.   +4 more
europepmc   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review. [PDF]

Medicine (Baltimore)
Zeng J, Yang D, Dai T, Xia J, Zheng Z.
europepmc   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report. [PDF]

Heliyon
Zhao C, Gao C, Zhu Y, Zhang Q, Lin P.
europepmc   +1 more source