116,305 results match your criteria gene abnormalities

Isoflucypram cardiovascular toxicity in zebrafish (Danio rerio).

Xin Chen Wenhua Li

Sci Total Environ 2021 May 6;787:147529. Epub 2021 May 6.

Engineering Research Center of Molecular Medicine of Ministry of Education, Key Laboratory of Fujian Molecular Medicine, Key Laboratory of Xiamen Marine and Gene Drugs, Key Laboratory of Precision Medicine and Molecular Diagnosis of Fujian Universities, School of Biomedical Sciences, Huaqiao University, Xiamen 361021, PR China. Electronic address:

Isoflucypram belongs to the new generation of succinate dehydrogenase inhibitor (SDHI) fungicides that are commonly used in crop fungal disease control. Evidence indicates that isoflucypram poses a potential risk to aquatic organisms. However, the effects of isoflucypram during early embryogenesis are not fully understood. Read More

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Role of genetic variants of Vitamin D receptor, Toll-like receptor 2 and Toll-like receptor 4 in extrapulmonary tuberculosis.

Microb Pathog 2021 May 12:104911. Epub 2021 May 12.

Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, J&K, India. Electronic address:

Background: Tuberculosis (TB) is a chronic infectious disease caused by Mycobacterium tuberculosis (MTB). Vitamin D deficiency and vitamin D receptor (VDR) gene abnormalities confer susceptibility to tuberculosis. Toll-like receptors (TLRs), such as TLR-2, are also important mediators of inflammatory response against Mycobacterium tuberculosis. Read More

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Endothelial Connexin-Integrin Crosstalk in Vascular Inflammation.

Biochim Biophys Acta Mol Basis Dis 2021 May 12:166168. Epub 2021 May 12.

Department of Molecular Pathobiology and Cell Adhesion Biology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu-city, Mie 514-8507, Japan. Electronic address:

Cardiovascular diseases including blood vessel disorders represent a major cause of death globally. The essential roles played by local and systemic vascular inflammation in the pathogenesis of cardiovascular diseases have been increasingly recognized. Vascular inflammation triggers the aberrant activation of endothelial cells, which leads to the functional and structural abnormalities in vascular vessels. Read More

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Human cancer xenografts in immunocompromised mice provide an advanced genuine tumor model for research and drug development-A revisit of murine models for human cancers.

Quan-En Yang

Biochim Biophys Acta Gen Subj 2021 May 12:129929. Epub 2021 May 12.

Phycin, LLC., 4539 Metropolitan Court, Frederick, MD 21704, United States of America. Electronic address:

Molecular and cell biology studies have proven that human cancers are an enormously heterogenous disease, even if they originate from the same organ and tissue with identical morphological characteristics. Cancer cells in tumors from different individuals exhibit somewhat different characteristics on multiple levels, such as with respect to 1) their genetic polymorphism; 2) epigenetic mechanisms; 3) group gene activation/inactivation; 4) cell metabolism behavior; 5) aberrant incomplete terminal differentiation; 6) proliferative potential; and 7) hierarchical structure. These multiple parameters and their different combinations determine the biological characteristics of the cancer cells and their malignant/metastatic manifestations. Read More

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Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson's Disease (ARPD): PLA2G6 and Other Gene Loci.

Adv Exp Med Biol 2021 May 15. Epub 2021 May 15.

National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bengaluru, India.

Parkinson's disease (PD) is a neurodegenerative motor disorder which is largely sporadic; however, some familial forms have been identified. Genetic PD can be inherited by autosomal, dominant or recessive mutations. While the dominant mutations mirror the prototype of PD with adult-onset and L-dopa-responsive cases, autosomal recessive PD (ARPD) exhibit atypical phenotypes with additional clinical manifestations. Read More

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Novel Biallelic Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.

DNA Cell Biol 2021 May 14. Epub 2021 May 14.

Department of Ophthalmology, Xiang'an Hospital of Xiamen University; Fujian Provincial Key Laboratory of Ophthalmology and Visual Science; Fujian Engineering and Research Center of Eye Regenerative Medicine; Eye Institute of Xiamen University; School of Medicine, Xiamen University, Xiamen, Fujian, China.

Sperm motility is vital to human reproduction, and malformed sperm flagella can cause male infertility. Individuals with multiple morphological abnormalities of the flagella mostly have absent, short, coiled, bent, and/or irregular-caliber flagella. In this study, a patient with male infertility underwent a physical examination along with his wife. Read More

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Karyotypic complexity, TP53 pathogenic variants, and increased number of variants on Next-Generation Sequencing are associated with disease progression in a North American Adult T-Cell Leukemia/Lymphoma cohort.

Int J Lab Hematol 2021 May 14. Epub 2021 May 14.

Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA.

Introduction: Adult T-Cell Leukemia/Lymphoma (ATLL) is an aggressive T-cell malignancy without known characteristic cytogenetic abnormalities. Recurrent mutations in TP53, APC, and epigenetic and histone-modifying genes have been identified in North American ATLL. Their roles in disease progression are not yet fully elucidated. Read More

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RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children.

Cancer Med 2021 May 13. Epub 2021 May 13.

Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

B-cell precursor acute lymphoblastic leukemia (BCP-ALL) can be classified into subtypes according to the genetic aberrations they display. For instance, the translocation t(12;21)(p13;q22), representing the ETV6-RUNX1 fusion gene (ER), is present in a quarter of BCP-ALL cases. However, around 10% of the cases lack classifying chromosomal abnormalities (B-other). Read More

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Denosumab for the treatment of primary pediatric osteoporosis.

Osteoporos Int 2021 May 13. Epub 2021 May 13.

Center for Bone Quality, Department of Internal Medicine, Section Endocrinology, Leiden University Medical Center, Leiden, The Netherlands.

Primary osteoporosis is rare in children and adolescents and its optimal pharmacological management is uncertain. Bisphosphonates are commonly used while denosumab has only been administered to a few children with osteogenesis imperfecta. We studied a treatment-naïve 13. Read More

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