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Hoxa1
Homeobox protein Hox-A1 is a protein that in humans is encoded by the ''HOXA1'' gene. Gene Two transcription (genetics), transcript variants encoding two different protein isoform, isoforms have been found for this gene, with only one of the isoforms containing the homeodomain fold, homeodomain region. Function In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryogenesis, embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and cellular differentiation. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Clinical significance A common polymorphism in the HOXA1 ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Knockout Mice
A knockout mouse, or knock-out mouse, is a genetically modified mouse (''Mus musculus'') in which researchers have inactivated, or " knocked out", an existing gene by replacing it or disrupting it with an artificial piece of DNA. They are important animal models for studying the role of genes which have been sequenced but whose functions have not been determined. By causing a specific gene to be inactive in the mouse, and observing any differences from normal behaviour or physiology, researchers can infer its probable function. Mice are currently the laboratory animal species most closely related to humans for which the knockout technique can easily be applied. They are widely used in knockout experiments, especially those investigating genetic questions that relate to human physiology. Gene knockout in rats is much harder and has only been possible since 2003. The first recorded knockout mouse was created by Mario R. Capecchi, Martin Evans, and Oliver Smithies in 1989, fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mir-10 MicroRNA Precursor Family
The mir-10 microRNA precursor is a short non-coding RNA gene involved in gene regulation. It is part of an RNA gene family which contains mir-10, mir-51, mir-57, mir-99 and mir-100. mir-10, mir-99 and mir-100 have now been predicted or experimentally confirmed in a wide range of species.MIPF0000033 miR-51 and miR-57 have currently only been identified in the nematode '''' MIPF0000268 [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MicroRNA
Micro ribonucleic acid (microRNA, miRNA, μRNA) are small, single-stranded, non-coding RNA molecules containing 21–23 nucleotides. Found in plants, animals, and even some viruses, miRNAs are involved in RNA silencing and post-transcriptional regulation of gene expression. miRNAs base-pair to complementary sequences in messenger RNA (mRNA) molecules, then silence said mRNA molecules by one or more of the following processes: * Cleaving the mRNA strand into two pieces. * Destabilizing the mRNA by shortening its poly(A) tail. * Reducing translation of the mRNA into proteins. In cells of humans and other animals, miRNAs primarily act by destabilizing the mRNA. miRNAs resemble the small interfering RNAs (siRNAs) of the RNA interference (RNAi) pathway, except miRNAs derive from regions of RNA transcripts that fold back on themselves to form short stem-loops (hairpins), whereas siRNAs derive from longer regions of double-stranded RNA. The human genome may encode ov ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Regulation
Regulation of gene expression, or gene regulation, includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). Sophisticated programs of gene expression are widely observed in biology, for example to trigger developmental pathways, respond to environmental stimuli, or adapt to new food sources. Virtually any step of gene expression can be modulated, from transcriptional initiation, to RNA processing, and to the post-translational modification of a protein. Often, one gene regulator controls another, and so on, in a gene regulatory network. Gene regulation is essential for viruses, prokaryotes and eukaryotes as it increases the versatility and adaptability of an organism by allowing the cell to express protein when needed. Although as early as 1951, Barbara McClintock showed interaction between two genetic loci, Activator (''Ac'') and Dissociator (''Ds''), in the color formation of maize seeds, t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Athabaskan Brainstem Dysgenesis Syndrome
Athabaskan brainstem dysgenesis syndrome (ABDS) or Athabascan brainstem dysgenesis syndrome is an extremely rare genetic condition that affects the central nervous system's brainstem. It is characterized by a variety of varied traits, such as facial paresis, sensorineural deafness, congenital horizontal gaze palsy, central hypoventilation, and developmental delay. Signs and symptoms Symptoms of Athabaskan brainstem dysgenesis syndrome include developmental delay, central hypoventilation, sensorineural deafness, congenital horizontal gaze palsy, and additional variable characteristics, such as facial paresis. Causes It has been established that HOXA1 deficiency, which disrupts normal motor neuron development and results in loss of normal brainstem function, is the genetic etiology of Athabaskan brainstem dysgenesis syndrome. It has been discovered that two loss-of-function non-sense mutations in the HOXA1 gene, which result in a shortened protein product, are homozygo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Superior Olivary Nucleus
The superior olivary complex (SOC) or superior olive is a collection of brainstem nuclei that is located in pons, functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. The SOC is intimately related to the trapezoid body: most of the cell groups of the SOC are dorsal (posterior in primates) to this axon bundle while a number of cell groups are embedded in the trapezoid body. Overall, the SOC displays a significant interspecies variation, being largest in bats and rodents and smaller in primates. Physiology The superior olivary nucleus plays a number of roles in hearing. The medial superior olive (MSO) is a specialized nucleus that is believed to measure the time difference of arrival of sounds between the ears (the interaural time difference or ITD). The ITD is a major cue for determining the azimuth of sounds, i.e., localising them on the azimuthal plane – their degree to the left or t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facial Nucleus
The facial motor nucleus is a collection of neurons in the brainstem that belong to the facial nerve ( cranial nerve VII). These lower motor neurons innervate the muscles of facial expression and the stapedius. Structure The nucleus is situated in the caudal portion of the ventrolateral pontine tegmentum. Its axons take an unusual course, traveling dorsally and looping around the abducens nucleus, then traveling ventrally to exit the ventral pons medial to the spinal trigeminal nucleus. These axons form the motor component of the facial nerve, with parasympathetic and sensory components forming the intermediate nerve. The nucleus has a dorsal and ventral region, with neurons in the dorsal region innervating muscles of the upper face and neurons in the ventral region innervating muscles of the lower face. Function Because it innervates muscles derived from pharyngeal arches, the facial motor nucleus is considered part of the special visceral efferent (SVE) cell column, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain Stem
The brainstem (or brain stem) is the posterior stalk-like part of the brain that connects the cerebrum with the spinal cord. In the human brain the brainstem is composed of the midbrain, the pons, and the medulla oblongata. The midbrain is continuous with the thalamus of the diencephalon through the tentorial notch, and sometimes the diencephalon is included in the brainstem. The brainstem is very small, making up around only 2.6 percent of the brain's total weight. It has the critical roles of regulating heart and respiratory function, helping to control heart rate and breathing rate. It also provides the main motor and sensory nerve supply to the face and neck via the cranial nerves. Ten pairs of cranial nerves come from the brainstem. Other roles include the regulation of the central nervous system and the body's sleep cycle. It is also of prime importance in the conveyance of motor and sensory pathways from the rest of the brain to the body, and from the body back ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum
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, focused interests, and repetitive behaviors, which may include stimming. Formal 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 non-speaking populations. Increased estimates of autism prevalence since the 1990s are primarily attributed to broader cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
