Results 91 to 100 of about 229,423 (345)

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Multiple low dose streptozotocin‐induced diabetes as a model for studying autoimmune diabetes in humans

Animal Models and Experimental Medicine, EarlyView.
Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica, Suzana Stanisavljević, Dragica Mićanović, Ivana Stojanović, Đorđe Miljković   +4 more
wiley   +1 more source

Haplotype-Based Analysis of KIR-Gene Profiles in a South European Population—Distribution of Standard and Variant Haplotypes, and Identification of Novel Recombinant Structures

Frontiers in Immunology, 2020
Inhibitory Killer-cell Immunoglobulin-like Receptors (KIR) specific for HLA class I molecules enable human natural killer cells to monitor altered antigen presentation in pathogen-infected and tumor cells.
Elisa Cisneros, Manuela Moraru, Natalia Gómez-Lozano, Aura Muntasell, Miguel López-Botet, Miguel López-Botet, Carlos Vilches   +6 more
doaj   +1 more source

Multi-ethnic Distribution of Clinically Relevant CYP2C Genotypes and Haplotypes

The Pharmacogenomics Journal, 2012
To determine CYP2C19 and CYP2C8 allele frequencies, 28 coding and/or functional variants were genotyped in 1250 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish (AJ) individuals.
Suparna Martis, I. Peter, J. Hulot, R. Kornreich, R. Desnick, S. Scott   +5 more
semanticscholar   +1 more source

Genomic Evaluation of Recombination in Small Highly Inbred Beef Cattle Populations

Animal Research and One Health, EarlyView.
The study characterizes recombination in small beef cattle populations, revealing higher rates in CGC composites compared to inbred Line 1 Herefords. It identifies significant SNP associations linked to recombination across various autosomes, highlighting complex polygenic influences, with implications for genetic diversity and breeding strategies ...
E. Hay, A. S. Ling
wiley   +1 more source

Shennong 1 Chicken 40K Liquid Chip: Advancing Genetic Research in Chinese Indigenous Chickens

Animal Research and One Health, EarlyView.
Based on comprehensive genomic data of Chinese indigenous chickens, we developed a specialized genotyping array for this population. Comparative analyses with published mainstream arrays and evaluations, including genetic assessment of diverse chicken types and gene mining analyses, demonstrated its superior applicability to Chinese indigenous chickens.
Chaoqun Gao, Chenxi Zhang, Kaiyuan Tian, Shucan Zhao, Yongle Xue, Sensen Yan, Chengpeng Xiao, Donghua Li, Guirong Sun, Ruili Han, Ruirui Jiang, Yadong Tian, Wenting Li, Kejun Wang, Xiangtao Kang   +14 more
wiley   +1 more source

Contrasted Patterns of Molecular Evolution in Dominant and Recessive Self-Incompatibility Haplotypes in Arabidopsis

PLoS Genetics, 2012
Self-incompatibility has been considered by geneticists a model system for reproductive biology and balancing selection, but our understanding of the genetic basis and evolution of this molecular lock-and-key system has remained limited by the extreme ...
Pauline M. Goubet, H. Bergès, A. Bellec, Elisa Prat, Nicolas Helmstetter, S. Mangenot, S. Gallina, A. Holl, I. Fobis-Loisy, X. Vekemans, V. Castric   +10 more
semanticscholar   +1 more source

Comparative Effectiveness of Abatacept versus Adalimumab in Shared Epitope positive and negative Rheumatoid Arthritis patients

Arthritis &Rheumatology, Accepted Article.
Objectives The effect of the shared epitope (SE), and valine at position 11 (Val11) of HLA‐DRB1, on the activation of CD4+ T cells, is expected to be diminished by abatacept, a co‐stimulation blocker. However, published evidence on the value of genetic stratification for abatacept treatment is conflicting.
Chuan Fu Yap, Nisha Nair, Seema D Sharma, John Bowes, Amirah Binti Mohammad Ariff, Ann W Morgan, John D Isaacs, Anthony G Wilson, Kimme L Hyrich, Suzan Verstappen, James Bluett, Andrew P Morris, Anne Barton, Darren Plant, Sebastien Viatte   +14 more
wiley   +1 more source

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

Genetics and Molecular Biology, 2010
Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of ...
Wellington dos Santos Silva, Maria de Nazaré Klautau-Guimarães, Cesar Koppe Grisolia   +2 more
doaj  

Analysis of the VERNALIZATION-A1 exon-4 polymorphism in polyploid wheat

Вавиловский журнал генетики и селекции, 2017
One of the key genes that influence the adaptability of wheat to environments and yield are the VRN1 genes. In recent studies, an association of missense mutations within VERNALIZATION-A1 exon-4 with modulation of quantitative values of such ...
A. F. Muterko, E. A. Salina
doaj   +1 more source