Results 11 to 20 of about 4,885,439 (330)

Molecular genetics made simple [PDF]

Global Cardiology Science & Practice, 2012
Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better ...
Heba Sh. Kassem, Francesca Girolami, Despina Sanoudou   +2 more
doaj   +1 more source

Spi1 R235C point mutation confers hypersensitivity to radiation-induced acute myeloid leukemia in mice

iScience, 2023
Summary: Ionizing radiation (IR) is a risk factor for acute myeloid leukemia (rAML). Murine rAMLs feature both hemizygous chromosome 2 deletions (Del2) and point mutations (R235) within the hematopoietic regulatory gene Spi1.
Natalie Brown, Rosemary Finnon, Paul Finnon, Roisin McCarron, Lourdes Cruz-Garcia, Grainne O’Brien, Eleanor Herbert, Cheryl L. Scudamore, Edouard Morel, Christophe Badie   +9 more
doaj   +1 more source

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

iScience, 2023
Summary: Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene.
Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye   +24 more
doaj   +1 more source

Molecular Population Genetics [PDF]

Genetics, 2017
AbstractMolecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics.
Casillas, Sònia, Barbadilla, Antonio
openaire   +2 more sources

Sex-biased genome-editing effects of CRISPR-Cas9 across cancer cells dependent on p53 status

iScience, 2023
Summary: The CRISPR-Cas9 system has emerged as the dominant technology for gene editing and clinical applications. One major concern is its off-target effect after the introduction of exogenous CRISPR-Cas9 into cells.
Mengbiao Guo, Yuanyan Xiong
doaj   +1 more source

Interrogating cell type-specific cooperation of transcriptional regulators in 3D chromatin

iScience, 2021
Summary: Context-specific activities of transcription regulators (TRs) in the nucleus modulate spatiotemporal gene expression precisely. Using the largest ChIP-seq data and chromatin loops in the human K562 cell line, we initially interrogated TR ...
Xianfu Yi, Zhanye Zheng, Hang Xu, Yao Zhou, Dandan Huang, Jianhua Wang, Xiangling Feng, Ke Zhao, Xutong Fan, Shijie Zhang, Xiaobao Dong, Zhao Wang, Yujun Shen, Hui Cheng, Lei Shi, Mulin Jun Li   +15 more
doaj   +1 more source

Liver sphingomyelin synthase 1 deficiency causes steatosis, steatohepatitis, fibrosis, and tumorigenesis: An effect of glucosylceramide accumulation

iScience, 2021
Summary: Glucosylceramide (GluCer) was accumulated in sphingomyelin synthase 1 (SMS1) but not SMS2 deficient mouse tissues. In current study, we studied GluCer accumulation-mediated metabolic consequences.
Zhiqiang Li, Yeun-po Chiang, Mulin He, Tilla S. Worgall, Hongwen Zhou, Xian-Cheng Jiang   +5 more
doaj   +1 more source

Molecular Genetics and Economics [PDF]

Journal of Economic Perspectives, 2011
The costs of comprehensively genotyping human subjects have fallen to the point where major funding bodies, even in the social sciences, are beginning to incorporate genetic and biological markers into major social surveys. How, if at all, should economists use and combine molecular genetic and economic data from these surveys?
Beauchamp, Jonathan P, Cesarini, David, Johannesson, Magnus, van der Loos, Matthijs J. H. M, Koellinger, Philipp D, Groenen, Patrick J. F, Fowler, James H, Rosenquist, James, Thurik, A. Roy, Christakis, Nicholas A.   +9 more
openaire   +5 more sources

Molecular Genetics of Holoprosencephaly [PDF]

Fetal and Pediatric Pathology, 2000
Holoprosencephaly (HPE) is a common developmental defect of the human forebrain and midface. Pathological studies have identified different categories of severity of the brain and craniofacial malformations observed in HPE, although the variable clinical spectrum of HPE extends in unbroken sequence from alobar HPE and cyclopia to clinically unaffected ...
L, Nanni, R L, Schelper, M T, Muenke
openaire   +2 more sources

Per-nucleus crossover covariation is regulated by chromosome organization

iScience, 2022
Summary: Meiotic crossover (CO) recombination between homologous chromosomes regulates chromosome segregation and promotes genetic diversity. Human females have different CO patterns than males, and some of these features contribute to the high frequency
Cunxian Fan, Xiao Yang, Hui Nie, Shunxin Wang, Liangran Zhang   +4 more
doaj   +1 more source