Results 61 to 70 of about 1,458 (100)

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.

PLoS ONE, 2012
BackgroundRecent genome-wide association studies (GWAS) have identified common variants in the UMOD region associated with kidney function and disease in the general population.
Anna Köttgen, Qiong Yang, Lawrence C Shimmin, Adrienne Tin, Céline Schaeffer, Josef Coresh, Xuan Liu, Luca Rampoldi, Shih-Jen Hwang, Eric Boerwinkle, James E Hixson, W H Linda Kao, Caroline S Fox   +12 more
doaj   +1 more source

Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity

Genetics in Medicine Open
Purpose: Clinical variant analysis pipelines likely have poor sensitivity to the effects on splicing from variants beyond 10 to 20 bases of exon-intron boundaries.
Owen R. Hirschi, Stephanie A. Felker, Surya P. Rednam, Kelly L. Vallance, D. Williams Parsons, Angshumoy Roy, Gregory M. Cooper, Sharon E. Plon   +7 more
doaj   +1 more source

Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.

PLoS ONE, 2014
ObjectiveUsing European descent Czech populations, we performed a study of SLC2A9 and SLC22A12 genes previously identified as being associated with serum uric acid concentrations and gout.
Olha Hurba, Andrea Mancikova, Vladimir Krylov, Marketa Pavlikova, Karel Pavelka, Blanka Stibůrková   +5 more
doaj   +1 more source

Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome

Human Genomics
Background Alport syndrome (AS) is a hereditary progressive kidney disease caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Aberrant pre-mRNA splicing represents a major disease mechanism in AS, and both synonymous and intronic ...
Lina Wang, Zhi Wang, Yan Zhao, Xuyan Liu, Qiaomei Cui, Shuimi Zhang, Ran Zhang, Leping Shao   +7 more
doaj   +1 more source

Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

BMC Genetics, 2007
Background DGAT2 is a promising candidate gene for obesity because of its function as a key enzyme in fat metabolism and because of its localization on chromosome 11q13, a linkage region for extreme early onset obesity detected in our sample.
Platzer Matthias, Meitinger Thomas, Wabitsch Martin, Koberwitz Kerstin, Fries Hans-Rudolf, Wermter Anne-Kathrin, Brumm Harald, Scherag André, Reichwald Kathrin, Friedel Susann, Biebermann Heike, Hinney Anke, Hebebrand Johannes   +12 more
doaj   +1 more source

Comprehensive computational analysis of PKCδ non-synonymous variants identifies rs1703863535 as a potential breast cancer biomarker

BMC Cancer
PKCδ is a key isoform in the PKC subgroup of AGC-kinase proteins, known to be involved in various cellular processes. Dysregulation of its expression has been linked to multiple malignancies.
Sameen Zafar, Yasmin Badshah, Maria Shabbir, Somia Khan, Amna Hafeez, Naeem Mahmood Ashraf, Janeen H. Trembley, Tayyaba Afsar, Ali Almajwal, Suhail Razak   +9 more
doaj   +1 more source

Serum Calcium Concentration Is Associated with Bone Mineral Density and Synonymous Variants in the RYR1 Gene in a Mexican-Mestizo Population

Medical Sciences
Background/Objectives: Serum calcium concentrations have been associated with bone mineral density (BMD), but results seem to depend on sex. Genetic variants in the Ryanodine Receptor1 (RYR1) gene have been previously associated with low BMD in ...
Tania V. López-Pérez, Rogelio F. Jiménez-Ortega, Armando Cruz-Rangel, Diana I. Aparicio-Bautista, Juan C. Fernández-López, Adriana Becerra-Cervera, Juan P. Reyes-Grajeda, Jorge Salmerón, Alberto Hidalgo-Bravo, Berenice Rivera-Paredez, Rafael Velázquez-Cruz   +10 more
doaj   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier–Gorlin syndrome-7 using whole exome sequencing

Human Genomics
Background Meier–Gorlin syndrome-7 (MGORS7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in the CDC45 gene.
Jianlong Zhuang, Nan Huang, Junyu Wang, Chunnuan Chen   +3 more
doaj   +1 more source

Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects

PLOS ONE
SRD5A2 gene variants are associated with deficiency of steroid 5α-reductase type 2, which is an autosomal recessive disorder of sex development (DSD) present in 46,XY males with ambiguous genitalia. To determine the causality of the disorder, this study involved genetic screening of SRD5A2 in six unrelated patients with this condition. Polymerase chain
openaire   +3 more sources

Study of grammatical synonyms and variants in English and Azerbaijan languagess

Filologiya məsələləri Journal of Philological Issues
openaire   +1 more source