Results 11 to 20 of about 259,728 (252)

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

Haematologica, 2012
Background The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations.
Hee-Jin Kim, Duk-Kyung Kim, Ki-Young Yoo, Chur-Woo You, Jong-Ha Yoo, Ki-O Lee, In-Ae Park, Hae-Sun Choung, Hee-Jung Kim, Min-Jung Song, Sun-Hee Kim   +10 more
doaj   +1 more source

p53 codon 72 polymorphism in Taiwanese breast cancer patients

Kaohsiung Journal of Medical Sciences, 2013
There are clear discrepancies between ethnicity and geographic area regarding the peak age incidence and mortality of breast cancer. Underlying variances include genetic, environmental, and socioeconomic factors.
Fang-Ming Chen, Fu Ou-Yang, Sheau-Fang Yang, Eing-Mei Tsai, Ming-Feng Hou   +4 more
doaj   +1 more source

Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases. [PDF]

PLoS ONE, 2016
Systemic Autoimmune Diseases, a group of chronic inflammatory conditions, have variable symptoms and difficult diagnosis. In order to reclassify them based on genetic markers rather than clinical criteria, we performed clustering of Single Nucleotide ...
Thomas Charlon, Manuel Martínez-Bueno, Lara Bossini-Castillo, F David Carmona, Alessandro Di Cara, Jérôme Wojcik, Sviatoslav Voloshynovskiy, Javier Martín, Marta E Alarcón-Riquelme   +8 more
doaj   +1 more source

Strong association of interleukin-6 −174G/C promoter single nucleotide polymorphism with a decreased risk of colorectal cancer in ethnic Kashmiri population: A case control study

Tumor Biology, 2017
Chronic inflammation increases the risk of development of various cancers, including colorectal cancer. Interleukin-6 has been described as a key regulator of colorectal cancer development and is important in the process of colorectal tumorigenesis ...
Mujeeb Zafar Banday, Henah Mehraj Balkhi, Aga Syed Sameer, Nissar A Chowdri, Ehtishamul Haq   +4 more
doaj   +1 more source

Lack of Association Between Toll-like Receptor 2 Polymorphisms (R753Q and A-16934T) and Atopic Dermatitis in Children from Thrace Region of Turkey

Balkan Medical Journal, 2017
Background: Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. Aims: To evaluate whether single nucleotide polymorphisms in the
Ceren Can, Mehtap Yazıcıoğlu, Hakan Gürkan, Hilmi Tozkır, Adnan Görgülü, Necdet Hilmi Süt   +5 more
doaj   +1 more source

ABL single nucleotide polymorphisms may masquerade as BCR-ABL mutations associated with resistance to tyrosine kinase inhibitors in patients with chronic myeloid leukemia

Haematologica, 2008
The BCR-ABL K247R change is based on a rare single nucleotide polymorphism occurring likewise in healthy controls and non-hematologic cell types. Despite its juxtaposition to the P-loop, functional analysis showed no alteration compared to non-mutated ...
Thomas Ernst, Jana Hoffmann, Philipp Erben, Benjamin Hanfstein, Armin Leitner, Rüdiger Hehlmann, Andreas Hochhaus, Martin C. Müller   +7 more
doaj   +1 more source

Programmed death-ligand 1 single nucleotide polymorphism affects breast cancer chemosensitivity and adverse events in the neoadjuvant setting

The International Journal of Biological Markers, 2020
Objective We aimed to determine whether single nucleotide polymorphisms in the PD-L1 gene are related to the response and adverse events of patients receiving neoadjuvant therapy and to explore the mechanism.
Jinglu Lu*, Ziping Wu*, Jing Peng, Shuguang Xu, Liheng Zhou, Yanping Lin, Yan Wang, Wenjin Yin, Jinsong Lu   +8 more
doaj   +1 more source

Superoxide dismutase coding of gene polymorphisms associated with susceptibility to Parkinson’s disease [PDF]

Journal of Integrative Neuroscience, 2019
Oxidative stress linked to the etiology of Parkinson’s disease, which is characterized by chronic and progressive neurodegeneration of dopamine neurons.
Chunlei Liu, Jinju Fang, Wenke Liu
doaj   +1 more source

Inflammasome genetic variants are associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes

Frontiers in Cellular and Infection Microbiology, 2022
BackgroundTuberculosis (TB) and AIDS are the leading causes of infectious diseases death worldwide. Here, we investigated the relationship between from single nucleotide polymorphisms (SNPs) of the NLRP3, CARD8, AIM2, CASP-1, IFI16, and IL-1β ...
Nathalia Beatriz Ramos de Sá, Nara Cristina Silva de Souza, Milena Neira-Goulart, Marcelo Ribeiro-Alves, Tatiana Pereira Da Silva, Jose Henrique Pilotto, Jose Henrique Pilotto, Valeria Cavalcanti Rolla, Carmem B. W. Giacoia-Gripp, Luzia Maria de Oliveira Pinto, Daniel Scott-Algara, Mariza Gonçalves Morgado, Sylvia Lopes Maia Teixeira   +12 more
doaj   +1 more source

Single nucleotide polymorphism (SNP) discovery in polyploid plants

浙江大学学报. 农业与生命科学版, 2011
Single nucleotide polymorphism (SNP) is a kind of DNA polymorphism in genome which results from the variance of single nucleotide. In diploid organisms (such as human, Arabidopsis thaliana, Oryza sativa, etc.), many SNP markers were discovered as genetic
HE Dao-hua, XING Hong-yi, ZHAO Jun-xing, ZHAO Yan-ning, QI Cheng, WANG Yan-ting   +5 more
doaj   +1 more source