Results 191 to 200 of about 479,118 (340)

Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples. [PDF]

PLoS One
Wen L, Zhang Y, Zhang W, Mao A, Li X.
europepmc   +1 more source

Association of ficolin single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han Population. [PDF]

Rheumatol Immunol Res
Yin F, Gu J, Zhao P, Chen J.
europepmc   +1 more source

Single Nucleotide Polymorphisms as Predictors for Development of Erectile Dysfunction in African-American Men Treated With Radiotherapy for Prostate Cancer [PDF]

, 2007
Julian O. Moore, Richard G. Stock, Jamie A. Cesaretti, Nelson N. Stone, W. Li, Solange Peters, David P. Atencio, Craig A. Peters, R. Burri, Barry S. Rosenstein   +9 more
openalex   +1 more source

Targeting G‐Rich lncRNA and its Structural Polymorphism with Selective G‐Quadruplex Ligands: An NMR Study

Chemistry – A European Journal, EarlyView.
The REG1CP‐derived RNA oligonucleotide SL15P adopts a parallel G‐quadruplex (rGQ) structure. In this study, we investigate the effect of several well‐characterized ligands, originally developed for DNA GQs, on the RNA counterpart, with the aim of evaluating their binding ability and specific binding modes.
Giuseppe Satta, Jasna Brčić, Janez Plavec   +2 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Clinical Impact of LAG3 Single-Nucleotide Polymorphism in DLBCL Treated with CAR-T Cell Therapy. [PDF]

Int J Mol Sci
Seipel K, Spahr SM, Shaforostova I, Bacher U, Nilius H, Pabst T.   +5 more
europepmc   +1 more source

Exploration and Characterization of the Antimalarial Activity of Pyrimidine‐2,4‐Diamines for which Resistance is Mediated by the ABCI3 Transporter

ChemMedChem, EarlyView.
Investigation of the structure‐activity relationship on W482 (1) with a pyrimidine‐2,4‐diamine scaffold culminated in analog 51 with enhanced anti‐plasmodial activity. Forward genetics and phenotypic examination revealed the ABCI3 transporter protein as a putative resistance mechanism.
Mahta Mansouri, Madeline G. Dans, Zijun Low, Katie Loi, Kate E. Jarman, Jocelyn S. Penington, Deyun Qiu, Adele M. Lehane, Benigno Crespo, Franciso‐Javier Gamo, Delphine Baud, Stephen Brand, Paul F. Jackson, Alan F. Cowman, Brad E. Sleebs   +14 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

GENE EXPRESSION AND SINGLE NUCLEOTIDE POLYMORPHISM (rs1140713) OF MICRORNA-126

The Iraqi Journal of Agricultural science
MicroRNAs are non-coding gene regulators that may serve as systemic lupus erythematosus biomarkers for diagnosis or prognosis. This study was aimed to identify the single nucleotide polymorphism (rs1140713) of microRNA-126 and its expression by using ...
W. L. Abdullah, R. M. Abed
doaj  

Mitochondrial ATP synthase 8 single-nucleotide polymorphism affects oxidative stress and survival of mice. [PDF]

Pflugers Arch
Reichart G, Mayer J, Tokay T, Kirschstein T, Lange F, Köhling R.   +5 more
europepmc   +1 more source