Results 21 to 30 of about 8,105,978 (263)
Molecular Cytogenetics, 2018 Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed +9 more
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Molecular Genetics & Genomic Medicine, 2020 Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo +7 more
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Mens Sana Monographs, 2009 GENDER ISSUES ARISE IN RELATION TO THE HUMAN GENOME ACROSS A NUMBER OF DIMENSIONS: the level of attention given to the nuclear genome as opposed to the mitochondrial; the level of basic scientific research; decision-making in the clinic related to both reproductive decision-making on the one hand, and diagnostic and predictive testing on the other; and
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The genomics of the human endometrium
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012 The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Ruiz-Alonso, Maria +2 more
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Expression of concern for global biomedical research by the human genome organization (HUGO)
Human GenomicsCuts to US science funding will stall advances in genomics affecting public health, rare disease and cancer diagnostics and therapeutics in the US and around the world.
Ada Hamosh +12 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan +3 more
wiley +1 more source
Diversity and complexity in neural organoids
FEBS Letters, EarlyView.Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley +1 more source
The Human Genome Revealed [PDF]
Genome Research, 2001 Seeing the International Sequencing Consortium's draft of the human genome is highly satisfying. The way in which its 3 billion bases have been determined closely followed the course outlined more than a decade ago by the National Academy of Sciences (NAS) Committee on “Mapping and Sequencing the Human Genome.” Bruce Alberts, now the President of the ...
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Nature Reviews Genetics, 2020 A study in Science shows that anthropologically informed approaches to genome sequencing can provide a fuller understanding of human genetic variation, including new insights into how past events have led to present-day population structure.
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Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation
FEBS Letters, EarlyView.Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz +11 more
wiley +1 more source