Results 81 to 90 of about 4,235 (189)

Combining Genome Wide Association Studies and Differential Gene Expression Data Analyses Identifies Candidate Genes Affecting Mastitis Caused by Two Different Pathogens in the Dairy Cow [PDF]

, 2015
Mastitis is a costly disease which hampers the dairy industry. Inflammation of the mammary gland is commonly caused by bacterial infection, mainly Escherichia coli, Streptococcus uberis and Staphylococcus aureus.
Chen, X, Cheng, Z R, Wathes, D C, Werling, D, Zhang, S   +4 more
core   +3 more sources

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2

Human Mutation, 2022
Different pathogenic variants in the fibrillin-1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia, acromelic dysplasia patients present with short stature, brachydactyly, stiff joints, and hypermuscularity.
Silke Peeters, Pauline De Kinderen, Josephina A. N. Meester, Aline Verstraeten, Bart L. Loeys   +4 more
openaire   +3 more sources

Application of next generation sequencing in genetic and genomic studies [PDF]

, 2016
Genetic variants that spread along the human genome play vital roles in determining our traits, affecting development and potentially causing disorders. Most common disorders have complex underlying mechanisms involving genetic or environmental factors
Wang, Jingwen
core   +1 more source

Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma

Oncology Reports, 2009
In the development and progression of cancer, tumor suppressor genes may be silenced by mechanisms such as methylation. Thus the discovery of new genes silenced by methylation may uncover new tumor suppressor genes, and improve our understanding of cancer biology.
Liu, Jun-Feng, Tsunoda, Shigeru, Tian, Zi-Qing, Jamieson, Glyn G, Drew, Paul Anthony, De Young, Neville J, Wang, Xian, Smith, Eric   +7 more
openaire   +4 more sources

Single‐Nucleotide Polymorphisms Associated With Aortic and Varicose Vein–Related Vascular Anomalies: A Systematic Review

International Journal of Vascular Medicine, Volume 2026, Issue 1, 2026.
Vascular anomalies, including aneurysms, dissections, varicose veins, and abnormal branching, arise from both genetic and environmental influences. While rare monogenic disorders underscore the genetic basis of vascular structure, common single‐nucleotide polymorphisms (SNPs) may also shape vascular morphology.
Marlies Verleyen, Yukun He, Bert Callewaert, Isabelle Van Herzeele, Emmanuel Audenaert, Baohui Xu   +5 more
wiley   +1 more source

Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population

Arthritis Research & Therapy, 2020
Background Differences in the expression of variants across ethnic groups in the systemic lupus erythematosus (SLE) patients have been well documented. However, the genetic architecture in the Thai population has not been thoroughly examined.
Pattarin Tangtanatakul, Chisanu Thumarat, Nusara Satproedprai, Punna Kunhapan, Tassamonwan Chaiyasung, Siriwan Klinchanhom, Yong-Fei Wang, Wei Wei, Jeerapat Wongshinsri, Direkrit Chiewchengchol, Pongsawat Rodsaward, Pintip Ngamjanyaporn, Thanitta Suangtamai, Surakameth Mahasirimongkol, Prapaporn Pisitkun, Nattiya Hirankarn   +15 more
doaj   +1 more source

Bowman's layer dystrophy with irido-fundal coloboma in the same patient: a case report [PDF]

, 2017
Introduction: The corneal dystrophies are rare corneal diseases, defined as bilateral, symmetric and inherited conditions. Ocular coloboma is a congenital defect caused by embryogenesis imperfection, during the sixth week of development.
Mota, M, Pedrosa, C, Pires, G, Prieto, I, Pêgo, P, Silva, D, Vendrell, C   +6 more
core  

Harmonic propagation of variability in surface energy balance within a coupled soil-vegetation-atmosphere system [PDF]

, 2011
International audienceThe response of a soil-vegetation-atmosphere continuum model to incoming radiation forcing is investigated in order to gain insights into the coupling of soil and atmospheric boundary layer (ABL) states and fluxes.
Entekhabi, D., Gentine, P., Polcher, J.
core   +3 more sources

Engineering the Link: From Genome Interaction Maps to Functional Insight

Advanced Biology, Volume 9, Issue 12, December 2025.
Advances in chromosome conformation capture have revealed the genome's 3D organization, yet its causal impact on gene regulation remains elusive. This review highlights emerging genome‐engineering tools ‐ zinc fingers, TALEs, and CRISPR‐Cas9 ‐ that enable targeted manipulation of chromatin loops to dissect structure–function relationships. It discusses
Frido Petersen, Simon Westermann, Valeriia Smialkovska, Jan Mathony, Angelika Feldmann, Dominik Niopek   +5 more
wiley   +1 more source

Widespread disruption of host transcription termination in HSV-1 infection. [PDF]

, 2015
Herpes simplex virus 1 (HSV-1) is an important human pathogen and a paradigm for virus-induced host shut-off. Here we show that global changes in transcription and RNA processing and their impact on translation can be analysed in a single experimental ...
Bonfert, Thomas, Crump, Colin, Dölken, Lars, Efstathiou, Stacey, Erhard, Florian, Friedel, Caroline C, L'Hernault, Anne, Rosenstiel, Philip, Rutkowski, Andrzej J, Schilhabel, Markus, Zimmer, Ralf   +10 more
core   +3 more sources