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NBN (gene)
Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the ''NBN'' gene. Function Nibrin is a protein associated with the repair of double strand breaks (DSBs) which pose serious damage to a genome. It is a 754 amino acid protein identified as a member of the NBS1/hMre11/RAD50(N/M/R, more commonly referred to as MRN) double strand DNA break repair complex. This complex recognizes DNA damage and rapidly relocates to DSB sites and forms nuclear foci. It also has a role in regulation of N/M/R (MRN) protein complex activity which includes end-processing of both physiological and mutagenic DNA double strand breaks (DSBs). Cellular response to DSBs Cellular response is performed by damage sensors, effectors of lesion repair and signal transduction. The central role is carried out by ataxia telangiectasia mutated (ATM) by activating the DSB signaling cascade, phosphorylating downstream substrates such as histone H2AX and NBS1. NBS1 relocates to DSB site ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ...
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Growth Retardation
A delayed milestone, which is also known as a developmental delay, refers to a situation where a child does not reach a particular developmental milestone at the expected age. Developmental milestones refer to a collection of indicators that a child is anticipated to reach as they grow older. Each age group has its distinct set of milestones, representing behaviors that develop gradually and serve as foundational building blocks for growth and ongoing learning. These behavioral milestones fall into various categories of child development stages, including: * Adaptive skills: Activities of daily living, such as putting on clothes, eating, and washing independently. * Cognition and intellect: Involves thinking, solving problems, making judgements and comprehension. * Emotional expression: Includes facial movements, such as a smile when happy, or an action, such as giving a gift to express gratitude * Language: Being able to communicate verbally with speech and/or nonverbally with ges ...
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Arabidopsis Thaliana
''Arabidopsis thaliana'', the thale cress, mouse-ear cress or arabidopsis, is a small plant from the mustard family (Brassicaceae), native to Eurasia and Africa. Commonly found along the shoulders of roads and in disturbed land, it is generally considered a weed. A winter annual with a relatively short lifecycle, ''A. thaliana'' is a popular model organism in plant biology and genetics. For a complex multicellular eukaryote, ''A. thaliana'' has a relatively small genome of around 135 Base pair#Length measurements, megabase pairs. It was the first plant to have its genome sequenced, and is an important tool for understanding the molecular biology of many plant traits, including flower development and phototropism, light sensing. Description ''Arabidopsis thaliana'' is an annual plant, annual (rarely biennial plant, biennial) plant, usually growing to 20–25 cm tall. The leaf, leaves form a rosette at the base of the plant, with a few leaves also on the flowering Plant ste ...
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Homology (biology)
In biology, homology is similarity in anatomical structures or genes between organisms of different taxa due to shared ancestry, ''regardless'' of current functional differences. Evolutionary biology explains homologous structures as retained heredity from a common descent, common ancestor after having been subjected to adaptation (biology), adaptive modifications for different purposes as the result of natural selection. The term was first applied to biology in a non-evolutionary context by the anatomist Richard Owen in 1843. Homology was later explained by Charles Darwin's theory of evolution in 1859, but had been observed before this from Aristotle's biology onwards, and it was explicitly analysed by Pierre Belon in 1555. A common example of homologous structures is the forelimbs of vertebrates, where the bat wing development, wings of bats and origin of avian flight, birds, the arms of primates, the front flipper (anatomy), flippers of whales, and the forelegs of quadrupedalis ...
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Meiosis
Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one copy of each chromosome (haploid). Additionally, prior to the division, genetic material from the paternal and maternal copies of each chromosome is crossed over, creating new combinations of code on each chromosome. Later on, during fertilisation, the haploid cells produced by meiosis from a male and a female will fuse to create a zygote, a cell with two copies of each chromosome. Errors in meiosis resulting in aneuploidy (an abnormal number of chromosomes) are the leading known cause of miscarriage and the most frequent genetic cause of developmental disabilities. In meiosis, DNA replication is followed by two rounds of cell division to produce four daughter cells, each with half the number of chromosomes as the original parent cell. ...
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Somatic Cell
In cellular biology, a somatic cell (), or vegetal cell, is any biological cell forming the body of a multicellular organism other than a gamete, germ cell, gametocyte or undifferentiated stem cell. Somatic cells compose the body of an organism and divide through mitosis. In contrast, gametes derive from meiosis within the germ cells of the germline and they fuse during sexual reproduction. Stem cells also can divide through mitosis, but are different from somatic in that they differentiate into diverse specialized cell types. In mammals, somatic cells make up all the internal organs, skin, bones, blood and connective tissue, while mammalian germ cells give rise to spermatozoa and ova which fuse during fertilization to produce a cell called a zygote, which divides and differentiates into the cells of an embryo. There are approximately 220 types of somatic cell in the human body. Theoretically, these cells are not germ cells (the source of gametes); they transmit their mut ...
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Homologous Recombination
Homologous recombination is a type of genetic recombination in which genetic information is exchanged between two similar or identical molecules of double-stranded or single-stranded nucleic acids (usually DNA as in Cell (biology), cellular organisms but may be also RNA in viruses). Homologous recombination is widely used by cells to accurately DNA repair, repair harmful DNA breaks that occur on both strands of DNA, known as double-strand breaks (DSB), in a process called homologous recombinational repair (HRR). Homologous recombination also produces new combinations of DNA sequences during meiosis, the process by which eukaryotes make gamete cells, like sperm and ovum, egg cells in animals. These new combinations of DNA represent genetic variation in offspring, which in turn enables populations to Adaptation, adapt during the course of evolution. Homologous recombination is also used in horizontal gene transfer to exchange genetic material between different strains and species ...
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Developmental Biology
Developmental biology is the study of the process by which animals and plants grow and develop. Developmental biology also encompasses the biology of Regeneration (biology), regeneration, asexual reproduction, metamorphosis, and the growth and differentiation of stem cells in the adult organism. Perspectives The main processes involved in the embryogenesis, embryonic development of animals are: tissue patterning (via regional specification and patterned cellular differentiation, cell differentiation); tissue growth; and tissue morphogenesis. * Regional specification refers to the processes that create the spatial patterns in a ball or sheet of initially similar cells. This generally involves the action of cytoplasmic determinants, located within parts of the fertilized egg, and of inductive signals emitted from signaling centers in the embryo. The early stages of regional specification do not generate functional differentiated cells, but cell populations committed to developing ...
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Infertility
In biology, infertility is the inability of a male and female organism to Sexual reproduction, reproduce. It is usually not the natural state of a healthy organism that has reached sexual maturity, so children who have not undergone puberty, which is the body's start of fertility, reproductive capacity, are excluded. It is also a normal state in women after menopause. In humans, ''infertility'' is defined as the inability to become pregnant after at least one year of unprotected and regular sexual intercourse involving a male and female partner. There are many causes of infertility, including some that Assisted reproductive technology, medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involuntary childlessness for at least one year, with estimates ranging from 12% to 28%. Male infertility is responsible for 20–30% of infert ...
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Chromosome Instability
Chromosomal instability (CIN) is a type of genome instability, genomic instability in which chromosomes are unstable, such that either whole chromosomes or parts of chromosomes are duplicated or deleted. More specifically, CIN refers to the increase in rate of addition or loss of entire chromosomes or sections of them. The unequal distribution of DNA to daughter cells upon mitosis results in a failure to maintain euploidy (the correct number of chromosomes) leading to aneuploidy (incorrect number of chromosomes). In other words, the daughter cells do not have the same number of chromosomes as the cell they originated from. Chromosomal instability is the most common form of genetic instability and cause of aneuploidy. These changes have been studied in solid tumors (a tumor that usually doesn't contain liquid, pus, or air, compared to liquid tumor), which may or may not be cancerous. CIN is a common occurrence in solid tumour, solid and leukaemia, haematological cancers, especially ...
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Radiation
In physics, radiation is the emission or transmission of energy in the form of waves or particles through space or a material medium. This includes: * ''electromagnetic radiation'' consisting of photons, such as radio waves, microwaves, infrared, visible light, ultraviolet, x-rays, and Gamma ray, gamma radiation (γ) * ''particle radiation'' consisting of particles of non-zero rest energy, such as alpha radiation (α), beta radiation (β), proton radiation and neutron radiation * ''acoustics, acoustic radiation'', such as ultrasound, sound, and seismic waves, all dependent on a physical transmission medium * ''gravitational radiation'', in the form of gravitational waves, ripples in spacetime Radiation is often categorized as either ''ionizing radiation, ionizing'' or ''non-ionizing radiation, non-ionizing'' depending on the energy of the radiated particles. Ionizing radiation carries more than 10 electron volt, electron volts (eV), which is enough to ionize atoms and molecul ...
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Nonsense Mutation
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a ''nonsense codon'', or a premature stop codon in the transcribed mRNA, and leads to a truncated, incomplete, and possibly nonfunctional protein product. Nonsense mutations are not always harmful; the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected. As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations. Missense mutations differ from nonsense mutations since they are point mutations that exhibit a single nucleotide change to cause substitution of a different amino acid. A nonsense mutation also differs from a nonstop mutation, which is a point muta ...
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