Results 151 to 160 of about 120,949 (314)

Association of demographic and clinical factors with risk of acute pancreatitis: An exposure‐wide Mendelian randomization study

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
The incidence of acute pancreatitis is increasing over years especially in western countries, but the etiologies of acute pancreatitis have not been well understood. And it is unclear whether the reported possible risk factors are real causes of acute pancreatitis.
Qiu‐Yi Tang, Qi Yang, Xian‐Qiang Yu, Yu‐Xiu Liu, Zhi‐Hui Tong, Bai‐Qiang Li, Ya‐Ting Chen, Evan Yi‐Wen Yu, Wei‐Qin Li   +8 more
wiley   +1 more source

Genome‐Wide Aggregated Trans Effects Analysis Identifies Genes Encoding Immune Checkpoints as Core Genes for Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective The sparse effector “omnigenic” hypothesis postulates that the polygenic effects of common single nucleotide polymorphisms (SNPs) on a typical complex trait are mediated by trans effects that coalesce on expression of a relatively sparse set of core genes.
Athina Spiliopoulou, Andrii Iakovliev, Darren Plant, Megan Sutcliffe, Seema Sharma, Cankut Cubuk, Myles Lewis, Costantino Pitzalis, Anne Barton, Paul M. McKeigue   +9 more
wiley   +1 more source

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li, Shunan Yu, Yanzhuo Zhang, Ying Wang, Xu Jiang, Chengai Wu   +5 more
wiley   +1 more source

Recognition of glycine versus non‐glycine citrulline motifs dictates the HLA class II association of anti‐citrullinated protein antibodies ‐ insights from autoantibody profiling of 6900 Scandinavian rheumatoid arthritis patients

Arthritis &Rheumatology, Accepted Article.
Objectives Rheumatoid arthritis (RA) associated anti‐citrullinated protein antibodies (ACPA) target various antigens by binding short citrulline‐amino acid motifs, resulting in heterogeneous ACPA‐profiles among patients. Here we analyzed ACPA‐patterns by recognized citrulline‐motifs in relation to the RA risk factors HLA‐DRB1 shared epitope (SE ...
Linda Mathsson Alm, Helga Westerlind, Isabel Gehring, Monika Hansson, Nasim Ghasemzadeh, Jessica Rojas‐Restrepo, Saedis Saevarsdottir, Joe Sexton, Siri Lillegraven, Espen Haavardsholm, Bente Glintborg, Hilde Berner Hammer, Tore K. Kvien, Merete Lund Hetland, Leonid Padyukov, Swedish Rheumatology Quality Register Biobank Study Group (SRQb), The Danish Rheumatologic Biobank Study Group, Oliver Hendricks, Estrid Høgdall, Tue Wenzel Kragstrup, Dorte Vendelbo Jensen, Heidi Lausten Munk, Jens Kristian Pedersen, Torkell Ellingsen, Anne Gitte Loft, Ellen‐Margrethe Hauge, Salome Kristensen, Lene Dreyer, Asta Linauskas, Søren Jacobsen, Johan Askling, Caroline Grönwall   +31 more
wiley   +1 more source

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
A new GC genotype was found at VANGL1 c.346G>A, which resulted in the transformation of the 116th amino acid from alanine to proline. Allele and genotype distribution of VANGL1 c.346G>A between case and control groups were statistically different. The expression of FZD6 in NTDs fetuses was significantly increased, but no difference in VANGL1 expression
Yan Liu, Liang Dong, Xiufang Zhi, Yang Liu, Linsheng Zhao, Xiaowei Xu, Lu Wang, Jie Zheng, Linjie Pu, Chunyu Gu, Jianbo Shu, Chunquan Cai   +11 more
wiley   +1 more source

Feasibility and population exposure of 5‐fluorouracil using therapeutic drug monitoring (PREDICT‐5FU): A multicentre clinical trial

British Journal of Clinical Pharmacology, EarlyView.
Aim PREDICT‐5FU aimed to document 5‐fluorouracil (5FU) exposure in a cancer population and to evaluate the feasibility of 5FU and capecitabine therapeutic drug monitoring (TDM) in patients receiving standard doses and schedules. Methods Multicentre, prospective, observational single‐arm study.
Sarah Glewis, Michael Michael, Howard Gurney, Ian Olver, Nicholas Zdenkowski, Stephen Ackland, Craig Kukard, Madawa Jayawardana, S. Sandun M. Silva, Marliese Alexander, Jeanne Tie, Peter Galettis, Jennifer H. Martin   +12 more
wiley   +1 more source

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity. Abstract Purpose To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity.
Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong   +8 more
wiley   +1 more source

The tacrolimus concentration‐to‐dose ratio is associated with kidney function in heart transplant recipients

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Heart transplantation (HT) is frequently complicated by chronic kidney disease, of which tacrolimus‐related nephrotoxicity is an important cause. In kidney and liver transplant recipients, fast tacrolimus metabolism (defined as a low concentration‐to‐dose [C0/D] ratio), negatively affects kidney function.
Maaike R. Schagen, Teun B. Petersen, Boris C. A. Seijkens, Jasper J. Brugts, Kadir Caliskan, Alina A. Constantinescu, Brenda C. M. de Winter, Isabella Kardys, Dennis A. Hesselink, Olivier Manintveld   +9 more
wiley   +1 more source

The FADS1 rs174550 Genotype Modifies the n‐3 and n‐6 PUFA and Lipid Mediator Responses to a High Alpha‐Linolenic Acid and High Linoleic Acid Diets

Molecular Nutrition &Food Research, Volume 66, Issue 24, December 2022., 2022
This study aimed to explore the differences in the plasma fatty acid and lipid mediator concentrations in response to dietary polyunsaturated fatty acids (PUFA) between carriers of the FADS1 rs174550 TT and CC genotypes. Plasma concentrations of long‐chain PUFAs and their derived bioactive lipid mediators changed in a genotype dependent manner in ...
Topi Meuronen, Maria A. Lankinen, Johan Kolmert, Vanessa Derenji de Mello, Taisa Sallinen, Jyrki Ågren, Kirsi A. Virtanen, Markku Laakso, Craig E. Wheelock, Jussi Pihlajamäki, Ursula Schwab   +10 more
wiley   +1 more source

Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice

Prenatal Diagnosis, Volume 42, Issue 13, Page 1587-1593, December 2022., 2022
Abstract Objective Twins account for approximately 1 in 30 live births in the United States. However, there are limited clinical experience studies published in noninvasive prenatal testing (NIPT) for detecting aneuploidies in twins. This study reports the performance of an SNP‐based NIPT in the largest cohort with known outcomes for high‐risk ...
Valerie Kantor, Lihong Mo, Wendy DiNonno, Katherine Howard, Charuta C. Palsuledesai, Sheetal Parmar, Zahabiya Chithiwala, Russ Jelsema, Wenbo Xu, Herman L. Hedriana   +9 more
wiley   +1 more source