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DYRK1A
Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the ''DYRK1A'' gene. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode for at least five different isoforms. Function DYRK1A is a member of the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of the ''Drosophila'' mnb (minibrain) gene. DYRK1A has also been shown to modulate plasma homocysteine levels in a mouse model of overexpression. Clini ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DYRK2
Dual specificity tyrosine-phosphorylation-regulated kinase 2 is an enzyme, in particular a dual-specificity kinase, that in humans is encoded by the ''DYRK2'' gene. DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. See also *DYRK1A Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the ''DYRK1A'' gene. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or ... References Further reading * * * * * * * * * EC 2.7.12 {{ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DYRK1B
Dual specificity tyrosine-phosphorylation-regulated kinase 1B is an enzyme that in humans is encoded by the ''DYRK1B'' gene. Function DYRK1B is a member of the DYRK family of protein kinases. DYRK1B contains a bipartite nuclear localization signal and is found mainly in muscle and testis. The protein is proposed to be involved in the regulation of nuclear functions. Three isoforms of DYRK1B have been identified differing in the presence of two alternatively spliced exons within the catalytic domain. Interactions DYRK1B has been shown to interact with: * PCBD1 and * RANBP9. Clinical significance One lone missense mutation in Dyrk1B gene (R102C) was found associated with an autosomal dominant early onset Coronary Artery Disease, juvenile-onset truncal obesity, severe hypertension, and type II diabetes mellitus - seen in subjects from a nomadic group in Iran. See also *DYRK1A *DYRK2 Dual specificity tyrosine-phosphorylation-regulated kinase 2 is an enzyme, in par ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
There She Goes (TV Series)
''There She Goes'' is a British comedy-drama television series created and written by Shaun Pye, and based on his own experiences with his daughter who was born with a chromosomal disorder. The show follows the life of learning-disabled Rosie Yates, along with her parents Emily and Simon, and her older brother Ben. Both series are set in Rosie's present, but the writing features frequent flashbacks to her infancy and pre-school life (around ten years previously), when her parents were gradually learning of Rosie's disability. It was originally produced by Merman Television Ltd for BBC Four, but later moved to BBC Two for the second series. The programme received mostly positive reviews. In January 2023, filming began for a one-off hour-long special. It was broadcast on 21 June 2023. Cast and characters * Miley Locke as Rosie Ann Yates, a non-verbal child with an intellectual disability caused by DYRK1A syndrome, a rare chromosomal condition * David Tennant as Simon Yates, Ro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WDR68
WD repeat-containing protein 68 is a protein that in humans is encoded by the ''DCAF7'' gene. Interactions WDR68 has been shown to interact with DYRK1A Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the ''DYRK1A'' gene. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or .... References Further reading * * * * * * * * * * External links * * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Single-nucleotide Polymorphism
In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, a Guanine, G nucleotide present at a specific location in a reference genome may be replaced by an Adenine, A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles. SNPs can help explain differences in susceptibility to a wide range of diseases across a population. For example, a common SNP in the Factor H, CFH gene is associated with increased risk of age-related macular degeneration. Differences in the severity of an illness or response to treatments may also be manifestations of genetic variations caused by SNPs. For example, two ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radio Times
''Radio Times'' is a British weekly listings magazine devoted to television and radio programme schedules, with other features such as interviews, film reviews and lifestyle items. Founded in September 1923 by John Reith, then general manager of the British Broadcasting Company, it was the world's first broadcast listings magazine. In September 2023 it became the first broadcast listings magazine to reach and then pass its centenary. It was published entirely in-house by BBC Magazines from 8 January 1937 until 16 August 2011, when the division was merged into Immediate Media Company. On 12 January 2017, Immediate Media was bought by the German media group Hubert Burda. The magazine is published on Tuesdays and carries listings for the week from Saturday to Friday. Originally, listings ran from Sunday to Saturday: the changeover meant 8 October 1960 was listed twice, in successive issues. Since Christmas 1969, a 14-day double-duration issue has been published each December ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum Disorder
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing differences, Special interest (autism), focused interests, and repetitive behaviors, which may include stimming. Formal Diagnosis of autism, diagnosis requires significant challenges in multiple domains of life, with characteristics that are atypical or more pronounced than expected for one's age and sociocultural context.(World Health Organization: International Classification of Diseases version 11 (ICD-11)): https://icd.who.int/browse/2024-01/mms/en#437815624 Motor coordination difficulties are common but not required for diagnosis. Autism is a spectrum disorder, resulting in wide variations in presentation and support needs, such as that between speaking and Nonverbal autism, non-speaking populations. Increased estimates of Epidemiology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AIDS
The HIV, human immunodeficiency virus (HIV) is a retrovirus that attacks the immune system. Without treatment, it can lead to a spectrum of conditions including acquired immunodeficiency syndrome (AIDS). It is a Preventive healthcare, preventable disease. It can be managed with treatment and become a manageable chronic health condition. While there is no cure or vaccine for HIV, Management of HIV/AIDS, antiretroviral treatment can slow the course of the disease, and if used before significant disease progression, can extend the life expectancy of someone living with HIV to a nearly standard level. An HIV-positive person on treatment can expect to live a normal life, and die with the virus, not of it. Effective #Treatment, treatment for HIV-positive people (people living with HIV) involves a life-long regimen of medicine to suppress the virus, making the viral load undetectable. Treatment is recommended as soon as the diagnosis is made. An HIV-positive person who has an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrophage
Macrophages (; abbreviated MPhi, φ, MΦ or MP) are a type of white blood cell of the innate immune system that engulf and digest pathogens, such as cancer cells, microbes, cellular debris and foreign substances, which do not have proteins that are specific to healthy body cells on their surface. This self-protection method can be contrasted with that employed by Natural killer cell, Natural Killer cells. This process of engulfment and digestion is called phagocytosis; it acts to defend the host against infection and injury. Macrophages are found in essentially all tissues, where they patrol for potential pathogens by amoeboid movement. They take various forms (with various names) throughout the body (e.g., histiocytes, Kupffer cells, alveolar macrophages, microglia, and others), but all are part of the mononuclear phagocyte system. Besides phagocytosis, they play a critical role in nonspecific defense (innate immunity) and also help initiate specific defense mechanisms (adapti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Monocyte
Monocytes are a type of leukocyte or white blood cell. They are the largest type of leukocyte in blood and can differentiate into macrophages and monocyte-derived dendritic cells. As a part of the vertebrate innate immune system monocytes also influence adaptive immune responses and exert tissue repair functions. There are at least three subclasses of monocytes in human blood based on their phenotypic receptors. Structure Monocytes are amoeboid in appearance, and have nongranulated cytoplasm. Thus they are classified as agranulocytes, although they might occasionally display some azurophil granules and/or vacuoles. With a diameter of 15–22 μm, monocytes are the largest cell type in peripheral blood. Monocytes are mononuclear cells and the ellipsoidal nucleus is often lobulated/indented, causing a bean-shaped or kidney-shaped appearance. Monocytes compose 2% to 10% of all leukocytes in the human body. Development Monocytes are produced by the bone marrow from prec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HIV-1
The subtypes of HIV include two main subtypes, known as HIV type 1 (HIV-1) and HIV type 2 (HIV-2). These subtypes have distinct genetic differences and are associated with different epidemiological patterns and clinical characteristics. HIV-1 exhibits a genetic relation to viruses indigenous to chimpanzees and gorillas that inhabit West Africa, while HIV-2 viruses are affiliated with viruses present in the sooty mangabey, a vulnerable West African primate. HIV-1 viruses can be further stratified into groups M, N, O, and P. Among these, HIV-1 group M viruses are the most prevalent, infecting nearly 90% of people living with HIV and are responsible for the global AIDS pandemic. Group M can be further subdivided into subtypes based on genetic sequence data. Certain subtypes are known for their increased virulence or drug resistance to different medications used to treat HIV. HIV-2 viruses are generally considered to be less virulent and less transmissible than HIV-1 M group vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
