Results 41 to 50 of about 5,755,630 (299)

Characteristics of single nucleotide polymorphisms of genetic analysis.

, 2017
Characteristics of single nucleotide polymorphisms of genetic analysis.
Wenhui Zhou (572923), Lihua He (145436), Shanfa Yu (3737278), Guoshun Chen (3737275), Zengrui Zhang (3737284), Xiangrong Xu (3737281), Guizhen Gu (3737266), Yanhong Li (661033), Huanling Zhang (3737272), Yuxin Zheng (621613), Hui Wu (219526), Jie Jiao (2010958), Qiuyue Yang (3737269)   +12 more
core   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Single Nucleotide Polymorphisms in Coronary Microvascular Dysfunction

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Coronary microvascular dysfunction is an underdiagnosed pathologic process that is associated with adverse clinical outcomes. There are data to suggest that coronary microvascular dysfunction, in some cases, may be genetically determined.
Andrew P. Stein, Jonathan Harder, Henry R. Holmes, C. Noel Bairey Merz, Carl J. Pepine, Ellen C. Keeley   +5 more
doaj   +1 more source

Refining the Camelus dromedarius Myostatin Gene Polymorphism through Worldwide Whole-Genome Sequencing

Animals, 2022
Myostatin (MSTN) is a highly conserved negative regulator of skeletal muscle in mammals. Inactivating mutations results in a hyper-muscularity phenotype known as “double muscling” in several livestock and model species.
Silvia Bruno, Vincenzo Landi, Gabriele Senczuk, Samantha Ann Brooks, Faisal Almathen, Bernard Faye, Suheil Semir Bechir Gaouar, Mohammed Piro, Kwan Suk Kim, Xavier David, André Eggen, Pamela Burger, Elena Ciani   +12 more
doaj   +1 more source

Genes and single-nucleotide polymorphisms selected for analysis.

, 2016
Genes and single-nucleotide polymorphisms selected for analysis.
Xianglin Yuan (220063), Yang Tang (152970), Jing Li (10611), Liu Huang (293712), Qianqian Yu (114057), Guangyuan Hu (293711)   +5 more
core   +1 more source

Impact of single nucleotide polymorphisms on the stability of protein.

, 2022
Impact of single nucleotide polymorphisms on the stability of protein.
Fahmida Sultana Rima (13222422), Abu Ashfaqur Sajib (11930697), Mahmuda Akter (499325), Sumaiya Farah Khan (13222419)   +3 more
core   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Single nucleotide polymorphisms statistically significantly associated with RP.

, 2018
Single nucleotide polymorphisms statistically significantly associated with RP.
Susan Brain (5146517), Frances M. K. Williams (108925), Sabrina Munir (5146520), Maxim B. Freidin (246421)   +3 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Relationship between MUC17 Gene Polymorphisms and Endometriosis in Central Plains Chinese Women

Clinical and Experimental Obstetrics & Gynecology, 2022
Background: Endometriosis is one of the common benign gynecological diseases among reproductive aged women, which almost lead to pelvic pain, infertility and menstrual disorders. There is no blood test available for the diagnosis of endometriosis.
Mingjing Qiao, Huawen Zhang, Yang Xue, Li Yang   +3 more
doaj   +1 more source