Results 261 to 270 of about 1,412,344 (374)

A novel nonsense mutation (G181X) in the human cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects

, 1996
Takahide Arai, Shizuya Yamashita, Naohiko Sakai, Ken‐ichi Hirano, Shintaro Okada, Masato Ishigami, Takao Maruyama, M Yamane, H. Kobayashi, Satoshi Nozaki, Tohru Funahashi, Kaoru Kameda-Takemura, Nobuyuki Nakajima, Yūji Matsuzawa   +13 more
openalex   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source

P53 and anti‐p53 autoantibody complex versus anti‐p53 antibody as a biomarker for gastrointestinal cancer

Precision Medical Sciences, EarlyView.
This study compares the diagnostic value of the anti‐p53 autoantibody as potential biomarkers for gastrointestinal cancer with enzyme‐linked immunosorbent assay technique. Abstract Gastrointestinal tract cancer is among the most common types of cancer and includes colorectal cancer (CRC) and gastric cancer (GC).
V. Hamidi Sofiani, A. Ebrahimian Shiadeh, A. Tabarraei, H. Razavi Nikoo, F. Sadeghi, Gh. Kamrani, Y. Yahyapour, A. Moradi   +7 more
wiley   +1 more source

A novel nonsense mutation in <i>SCAF4</i> associated with fliedner-zweier syndrome: a case report and review of the literature. [PDF]

Front Genet
Chen Z, Zhao J, Fan X, Xuan X, Zhao X.
europepmc   +1 more source

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report. [PDF]

Medicine (Baltimore), 2023
Qian M, Lin S, Tan Y, Chen Q, Wang W, Li J, Mu C.   +6 more
europepmc   +1 more source

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #328 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/328.pdf [PDF]

, 2000
A. Tessa, A. Simonati, A. Tavoni, Enrico Bertini, Filippo M. Santorelli   +4 more
openalex   +1 more source

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival

Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat, Christèle Dubourg, Gaël Nicolas, Jean‐Madeleine de Sainte Agathe, Sylvie Odent, Laurent Pasquier, Audrey Riou   +6 more
wiley   +1 more source

Functional and Structural Analyses of Diverse G‐Quadruplex and Non‐G‐Quadruplex Structures Formed by Guanine‐Rich Nucleic Acids: A Study on the Insulin Aptamer

Small, EarlyView.
IGA3, a guanine‐rich insulin aptamer, adopts different structures depending on environmental conditions. Under low cation concentrations, IGA3 forms a non‐G‐quadruplex structure that interacts with insulin. This finding highlights that guanine‐rich nucleic acids, in structures other than G‐quadruplex, can also bind to proteins, revealing valuable ...
Naoya Iwano, Taiji Oyama, Mizuki Tomizawa, Shintaro Inaba, Ryuma Mori, Yasumoto Nakazawa, Koji Sode, Kaori Tsukakoshi, Takayuki Nakano, Kazunori Ikebukuro   +9 more
wiley   +1 more source

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report. [PDF]

Front Pediatr, 2023
Chen LJ, You ZM, Chen WH, Yang S, Feng CC, Wang HY, Wang T, Zhu YY.   +7 more
europepmc   +1 more source