Results 101 to 110 of about 690,386 (352)

A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function. [PDF]

, 2019
The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy.
Baker, Dewleen G, Biswas, Nilima, González-Sarmiento, Rogelio, Hightower, C Makena, Ichinose, Hiroshi, Kurosaki, Hiroki, León-Jiménez, David, Lipkowitz, Michael S, Mahata, Manjula, Miramontes-Gonzalez, Jose Pablo, Nievergelt, Caroline M, O'Connor, Daniel T, Schork, Andrew J, Vaingankar, Sucheta, Zhang, Kuixing, Ziegler, Michael G   +15 more
core   +2 more sources

Single nucleotide polymorphism discovery from wheat next-generation sequence data.

Plant Biotechnology Journal, 2012
Single nucleotide polymorphisms (SNPs) are the most abundant type of molecular genetic marker and can be used for producing high-resolution genetic maps, marker-trait association studies and marker-assisted breeding. Large polyploid genomes such as wheat
Kaitao Lai, Chris Duran, Paul J. Berkman, M. Lorenc, J. Stiller, Sahana Manoli, M. Hayden, K. Forrest, D. Fleury, U. Baumann, M. Zander, A. Mason, J. Batley, D. Edwards   +13 more
semanticscholar   +1 more source

Single nucleotide polymorphisms as a prerequisite for autoantigens [PDF]

European Journal of Immunology, 2005
AbstractIt is still elusive why certain self proteins induce an autoimmune response. One immunological hypothesis is that only modified or altered self‐proteins may become a target. Thus, we asked whether such alterations may actually be genetic polymorphisms that can be revealed by analyzing sequence variability in the known human autoantigens. Indeed,
Sarah Luginbühl, Beda M. Stadler, Diana Arnold, Sara Frieden, Michael B. Stadler   +4 more
openaire   +3 more sources

An Organ‐on‐Chip Platform for Strain‐Controlled, Tissue‐Specific Compression of Cartilage and Mineralized Osteochondral Interface to Study Mechanical Overloading in Osteoarthritis

Advanced Healthcare Materials, EarlyView.
A mechanically active OsteoChondral Unit (OCU)‐on‐Chip platform mimicking the OCU's functional anatomy and the strain gradient across the osteochondral interface is presented. Upon compartment‐specific hyperphysiological compression, the model replicates mechanisms observed in osteoarthritis (OA) progression, such as calcium crystal accumulation ...
Andrea Mainardi, Anastasiya Börsch, Paola Occhetta, Robert Ivanek, Martin Ehrbar, Lisa Krattiger, Philipp Oertle, Marko Loparic, Ivan Martin, Marco Rasponi, Andrea Barbero   +10 more
wiley   +1 more source

Cholesterol Ester Transfer Protein Taq1B Polymorphism and Its Association with Cardiovascular Risk Factors in Patients Undergoing Angiography in Yazd, Eastern Iran: A Cross-Sectional Study [PDF]

Iranian Journal of Medical Sciences
Background: Several studies assessed the relationship between the cholesterol ester transfer protein (CETP) Taq1B gene polymorphism (rs708272) with risk factors of cardiovascular diseases (CVDs). However, their findings were inconsistent.
Azam Ahmadi-Vasmehjani, Seyed Mostafa SeyedHosseini, Sayyed Saeid Khayyatzadeh, Farzan Madadizadeh, Mahta Mazaheri-Naeini, Mahdie Yavari, Zahra Darabi, Sara Beigrezaei, Marzieh Taftian, Vahid Arabi, Maryam Motallaei, Amin Salehi-Abargouei, Azadeh Nadjarzadeh   +12 more
doaj   +1 more source

Single nucleotide polymorphisms of the fukutin gene [PDF]

Journal of Human Genetics, 2001
Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial partial lipodystrophy (FPLD). This indicates that one gene can cause different phenotypes characterized by tissue degeneration. The gene for one form of Berardinelli-Seip-type congenital total lipodystrophy
Henian Cao, Robert A. Hegele, Jasper Yuen   +2 more
openaire   +3 more sources

Harnessing Photo‐Energy Conversion in Nanomaterials for Precision Theranostics

Advanced Materials, EarlyView.
Harnessing photo‐energy conversion in nanomaterials enables precision theranostics through light‐driven mechanisms such as photoluminescence, photothermal, photoelectric, photoacoustic, photo‐triggered surface‐enhanced Raman scattering (SERS), and photodynamic processes. This review explores six fundamental principles of photo‐energy conversion, recent
Jingyu Shi, Yadi Fan, Qin Zhang, Yingying Huang, Mo Yang   +4 more
wiley   +1 more source

Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

Российский кардиологический журнал, 2019
Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and ...
A. A. Ivanova, V. N. Maksimov, S. K. Malutina, V. P. Novoselov, M. I. Voevoda   +4 more
doaj   +1 more source

Collagen type 1A1, type 3A1, and LOXL1/4 polymorphisms as risk factors of pelvic organ prolapse

BMC Research Notes, 2021
Objective Collagen and elastin are the main components of the female pelvic tissue. We investigated whether single nucleotide polymorphisms (SNPs) of collagen type 1 alpha 1 (COL1A1), collagen type 3 alpha 1 (COL3A1), and lysyl oxidase-like (LOXL) 1 and ...
Asuka Ashikari, Tetsuji Suda, Minoru Miyazato   +2 more
doaj   +1 more source

dbSNP: a database of single nucleotide polymorphisms [PDF]

Nucleic Acids Research, 2000
In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Cancer for Biotechnology Information (NCBI) has established the dbSNP database. Submissions to dbSNP will be integrated with other sources of information at NCBI
Minghong Ward, Elizabeth M. Smigielski, Karl Sirotkin, Stephen T. Sherry   +3 more
openaire   +3 more sources