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Cranioectodermal Dysplasia
Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122 (WDR10), IFT43—a subunit of the IFT complex A machinery of primary cilium, cilia, and WDR35 (IFT121: TULP4) It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED) Presentation These are pleomorphic and include * dolichocephaly (with or without sagittal suture synostosis) * microcephaly * pre- and postnatal growth retardation * brachydactyly * narrow thorax * rhizomelic dwarfism * epicanthal folds * hypodontia and/or microdontia * sparse, slow-growing, hyperpigmented, fine hair * nail dysplasia * hypohydrosis * chronic kidney failure * heart defects * liver fibrosis * visual deficits * photo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intraflagellar Transport
Intraflagellar transport (IFT) is a bidirectional motility along axoneme microtubules that is essential for the formation (ciliogenesis) and maintenance of most eukaryotic cilia and flagella. It is thought to be required to build all cilia that assemble within a membrane projection from the cell surface. ''Plasmodium falciparum'' cilia and the sperm flagella of ''Drosophila'' are examples of cilia that assemble in the cytoplasm and do not require IFT. The process of IFT involves movement of large protein complexes called IFT particles or trains from the cell body to the ciliary tip and followed by their return to the cell body. The outward or anterograde movement is powered by kinesin-2 while the inward or retrograde movement is powered by cytoplasmic dynein 2/1b. The IFT particles are composed of about 20 proteins organized in two subcomplexes called complex A and B. IFT was first reported in 1993 by graduate student Keith Kozminski while working in the lab of Dr. Joel Rosenbaum a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Kidney Failure
Chronic kidney disease (CKD) is a type of long-term kidney disease, defined by the sustained presence of abnormal kidney function and/or abnormal kidney structure. To meet criteria for CKD, the abnormalities must be present for at least three months. Early in the course of CKD, patients are usually asymptomatic, but later symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications can relate to hormonal dysfunction of the kidneys and include (in chronological order) high blood pressure (often related to activation of the renin–angiotensin system), bone disease, and anemia. Additionally CKD patients have markedly increased cardiovascular complications with increased risks of death and hospitalization. CKD can lead to end-stage kidney failure requiring kidney dialysis or kidney transplantation. Causes of chronic kidney disease include diabetes, high blood pressure, glomerulonephritis, and polycystic kidney disease. Risk factors ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kinesin
A kinesin is a protein complex belonging to a class of motor proteins found in eukaryotic cells. Kinesins move along microtubule (MT) filaments and are powered by the hydrolysis of adenosine triphosphate (ATP) (thus kinesins are ATPases, a type of enzyme). The active movement of kinesins supports several cellular functions including mitosis, meiosis and transport of cellular cargo, such as in axonal transport, and intraflagellar transport. Most kinesins walk towards the plus end of a microtubule, which, in most cells, entails transporting cargo such as protein and membrane components from the center of the cell towards the periphery. This form of transport is known as anterograde transport. In contrast, dyneins are motor proteins that move toward the minus end of a microtubule in retrograde transport. Discovery The first kinesins to be discovered were microtubule-based anterograde intracellular transport motors in 1985, based on their motility in cytoplasm extruded from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sonic Hedgehog
Sonic hedgehog protein (SHH) is a major signaling molecule of embryonic development in humans and animals, encoded by the ''SHH'' gene. This signaling molecule is key in regulating embryonic morphogenesis in all animals. SHH controls organogenesis and the organization of the central nervous system, limbs, digits and many other parts of the body. Sonic hedgehog is a morphogen that patterns the developing embryo using a concentration gradient characterized by the French flag model. This model has a non-uniform distribution of SHH molecules which governs different cell fates according to concentration. Mutations in this gene can cause holoprosencephaly, a failure of splitting in the cerebral hemispheres, as demonstrated in an experiment using SHH knock-out mice in which the forebrain midline failed to develop and instead only a single fused telencephalic vesicle resulted. Sonic hedgehog still plays a role in differentiation, proliferation, and maintenance of adult tissues. Abno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 14
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells. The centromere of chromosome 14 is positioned approximately at position 17.2 Mbp. Genes Number of genes The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 2
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells. Chromosome 2 contains the HOXD homeobox gene cluster. Fusion Humans have only twenty-three pairs of chromosomes, while all other extant members of Hominidae have twenty-four pairs. It is believed that Neanderthals and Denisovans had twenty-three pairs. Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006. The ev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dalton (unit)
The dalton or unified atomic mass unit (symbols: Da or u, respectively) is a unit of mass defined as of the mass of an Bound state, unbound neutral atom of carbon-12 in its nuclear and electronic ground state and invariant mass, at rest. It is a Non-SI units mentioned in the SI, non-SI unit accepted for use with SI. The word "unified" emphasizes that the definition was accepted by both IUPAP and IUPAC. The atomic mass constant, denoted , is defined identically. Expressed in terms of , the atomic mass of carbon-12: . Its value in International System of Units, SI units is an experimentally determined quantity. The 2022 CODATA recommended value of the atomic mass constant expressed in the SI base unit kilogram is:This value serves as a Conversion of units, conversion factor of mass from daltons to kilograms, which can easily be converted to Gram, grams and other metric units of mass. The 2019 revision of the SI redefined the kilogram by fixing the value of the Planck constant (), i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 3
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans more than 201 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 3. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. List of genes The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right. p-arm Partial list of the genes located on p-arm (short arm) of human chromos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive - En
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electroretinography
Electroretinography measures the electrical responses of various cell types in the retina, including the Photoreceptor cell, photoreceptors (rod cell, rods and cone cell, cones), inner retinal cells (Retinal bipolar cell, bipolar and amacrine cell, amacrine cells), and the Retinal ganglion cell, ganglion cells. Electrodes are placed on the surface of the cornea (DTL silver/nylon fiber string or ERG jet) or on the skin beneath the eye (sensor strips) to measure retinal responses. Retinal pigment epithelium (RPE) responses are measured with an Electrooculography, EOG test with skin-contact electrodes placed near the Canthus, canthi. During a recording, the patient's eyes are exposed to standardized stimulus (physiology), stimuli and the resulting signal is displayed showing the time course of the signal's amplitude (voltage). Signals are very small, and typically are measured in microvolts or nanovolts. The ERG is composed of electrical potentials contributed by different cell type ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Corpus Callosum
The corpus callosum (Latin for "tough body"), also callosal commissure, is a wide, thick nerve tract, consisting of a flat bundle of commissural fibers, beneath the cerebral cortex in the brain. The corpus callosum is only found in placental mammals. It spans part of the longitudinal fissure, connecting the left and right cerebral hemispheres, enabling communication between them. It is the largest white matter structure in the human brain, about in length and consisting of 200–300 million axonal projections. A number of separate nerve tracts, classed as subregions of the corpus callosum, connect different parts of the hemispheres. The main ones are known as the genu, the rostrum, the trunk or body, and the splenium. Structure The corpus callosum forms the floor of the longitudinal fissure that separates the two cerebral hemispheres. Part of the corpus callosum forms the roof of the lateral ventricles. The corpus callosum has four main parts – individual nerv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
