NEK1
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NEK1
NIMA (never in mitosis gene a)-related kinase 1, also known as NEK1, is a human gene highly expressed in germ cells and thought to be involved in meiosis. It is also involved in the response to DNA damage from radiation; defects in this gene can be a cause of polycystic kidney disease. NEK1 is thought to be involved in amytrophic lateral sclerosis. The gene was discovered by researchers with Project MinE, with the ALS Association providing funding raised through the Ice Bucket Challenge. See also *NEK2 *NEK3 Serine/threonine-protein kinase Nek3 is an enzyme that in humans is encoded by the ''NEK3'' gene. In Aspergillus nidulans, lack of the serine/threonine kinase NimA (never in mitosis A) results in cell cycle arrest in G2, while overexpression cause ... * NEK4 References Further reading * * * * * * * * * Human proteins {{gene-4-stub ...
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Project MinE
Project MinE is an independent large scale whole genome research project that was initiated by 2 patients with amyotrophic lateral sclerosis and started on World ALS Day, June 21, 2013. The symptoms of amyotrophic lateral sclerosis are caused by degeneration of motor nerve cells (motor neurons) in the spinal cord, brainstem, and motor cortex. The exact cause of this degeneration is unknown but it is thought that environmental exposures and genetic factors play a role in susceptibility to the disease. In 5-10% of patients the family history is positive for ALS. However, it is not always possible to establish the mode of inheritance in each pedigree and not all familial cases may suffer from a genuine Mendelian or monogenic disorder. Autosomal-dominant mutations in the C9orf72 and the SOD1 gene are found in a substantial number of familial ALS cases. Mutations in other genes (such as VAPB [2], ANG, TARDBP and FUS (gene), FUS) have been reported, but are found at a much lower frequenc ...
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Amytrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (about ...
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ALS Association
The ALS Association is an American nonprofit organization that funds global amyotrophic lateral sclerosis (ALS) research, provides care services and programs to people affected by ALS through its nationwide network of chapters, and works with ALS advocates around the country for state and federal policies that serve people living with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The ALS Association is broken up into distinct chapters, each servicing a particular geographic area of the United States and all working under the umbrella of a national charter and administrator. Research The ALS Association has partnerships with Sean M. Healey & AMG Center for ALS at Massachusetts General Hospital, ALS Finding a Cure, and the Muscular Dystrophy Association. Additionally, the organization is a research partner for Answer ALS (started by Steve Gleason), Target ALS (founded by Dan Doctoroff), and ALS ONE. The organization also provides funding for the ALS Resea ...
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Ice Bucket Challenge
The Ice Bucket Challenge, sometimes called the ALS Ice Bucket Challenge, is an activity involving the pouring of a bucket of ice water over a person's head, either by another person or self-administered, to promote awareness of the disease amyotrophic lateral sclerosis (ALS, also known as motor neuron disease or Lou Gehrig's disease) and encourage donations to research. The challenge was co-founded by Pat Quinn and Pete Frates; it went viral on social media during July–August 2014. In the United States, many people participated for the ALS Association, and in the United Kingdom, many people participated for the Motor Neurone Disease Association, although some individuals opted to donate their money from the Ice Bucket Challenge to other organizations. The challenge encourages nominated participants to be filmed having a bucket of ice water poured on their heads and then nominating others to do the same. A common stipulation is that nominated participants have 24 hours to comp ...
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NEK2
Serine/threonine-protein kinase Nek2 is an enzyme that in humans is encoded by the ''NEK2'' gene. Interactions NEK2 has been shown to interact with MAPK1 and NDC80 Kinetochore protein NDC80 homolog is a protein that in humans is encoded by the ''NDC80'' gene. Function Ndc80 is one of the proteins of outer kinetochore. It forms a heterotetramer with proteins NUF2, SPC25, and SPC24. This protein complex has .... Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Germ Cells
Germ or germs may refer to: Science * Germ (microorganism), an informal word for a pathogen * Germ cell, cell that gives rise to the gametes of an organism that reproduces sexually * Germ layer, a primary layer of cells that forms during embryonic development * Cereal germ, the reproductive part of a cereal grain * Tooth germ, an aggregation of cells that eventually forms a tooth * Germ theory of disease, which states that some diseases are caused by microorganisms * Germ (mathematics), an object in a topological space that captures local properties Art and media Music * Germs (band), an American punk rock band * Germ (musician), a stage name of Tim Wright * Germ (rapper), an American rapper affiliated with Suicideboys and Pouya * "Germs" (song), by "Weird Al" Yankovic * ''The Germ'' (album), by Victim's Family Others * "Germs" (''Invader Zim''), an episode of ''Invader Zim'' * ''The Germ'' (periodical), a British art magazine published in 1850 * The Germs (comics ...
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Meiosis
Meiosis (; , since it is a reductional division) is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, such as sperm or egg cells. It involves two rounds of division that ultimately result in four cells 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 female will fuse to create a cell with two copies of each chromosome again, the zygote. 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 chr ...
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DNA Damage
DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA damage, resulting in tens of thousands of individual molecular lesions per cell per day. Many of these lesions cause structural damage to the DNA molecule and can alter or eliminate the cell's ability to transcribe the gene that the affected DNA encodes. Other lesions induce potentially harmful mutations in the cell's genome, which affect the survival of its daughter cells after it undergoes mitosis. As a consequence, the DNA repair process is constantly active as it responds to damage in the DNA structure. When normal repair processes fail, and when cellular apoptosis does not occur, irreparable DNA damage may occur, including double-strand breaks and DNA crosslinkages (interstrand crosslinks or ICLs). This can eventually lead to maligna ...
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Polycystic Kidney Disease
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well. PKD is caused by abnormal genes that produce a specific abnormal protein; this protein has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The abnormal gene exists in all cells in the body; as a result, cysts may occur in the liver, seminal vesicles, and pancreas. This ...
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NEK3
Serine/threonine-protein kinase Nek3 is an enzyme that in humans is encoded by the ''NEK3'' gene. In Aspergillus nidulans, lack of the serine/threonine kinase NimA (never in mitosis A) results in cell cycle arrest in G2, while overexpression causes the premature onset of mitotic events. The protein encoded by this gene is similar in sequence to the Aspergillus nidulans protein and may therefore play a role in mitotic regulation. However, the encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm In cell biology, the cytoplasm is all of the material within a eukaryotic cell, enclosed by the cell membrane, except for the cell nucleus. The material inside the nucleus and contained within the nuclear membrane is termed the nucleoplasm. The .... Three transcript variants have been found for this gene, but the full-length nature of only two of them has been characterized. References Further reading * * ...
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