|
North American Indian Childhood Cirrhosis
North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an autosomal recessive abnormality of the '' UTP4'' gene, which codes for cirhin. NAIC is a ribosomopathy. An R565W mutation of ''UTP4'' leads to partial impairment of cirhin interaction with NOL11. Initial transient neonatal jaundice advances over time to biliary cirrhosis with severe liver fibrosis. Eventually, liver failure occurs, and requires liver transplantation. See also * Indian childhood cirrhosis Indian childhood cirrhosis is a chronic liver disease of childhood characterised by cirrhosis of the liver associated with the deposition of copper in the liver. It primarily affects children of 1–3 years of age and has a genetic predisposition. ... References North American Indian childhood cirrhosison Genetics Home Reference {{reflist, refs= ←KEEP: This reference list is organized alphanumerically by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oji-Cree
The Oji-Cree are a First Nation in the Canadian provinces of Ontario and Manitoba, residing in a narrow band extending from the Missinaibi River region in Northeastern Ontario at the east to Lake Winnipeg at the west. The Oji-Cree people are descended from historical intermarriage between the Ojibwa and Cree cultures, but are generally considered a nation distinct from either of their ancestral groups. They are considered one of the component groups of Anishinaabe, and reside primarily in a transitional zone between traditional Ojibwa lands to their south and traditional Cree lands to their north. Historically, the Oji-Cree were identified by the British and Canadian governments as "Cree." The Oji-Cree have identified with the Cree (or more specifically, the Swampy Cree) and not with the Ojibwa located to the south of them. Traditionally, they were called ''Noopiming-ininiwag'' (People in the Woods) by the Ojibwe. Oji-Cree at Round Lake First Nation were known as ''Ajijaakoons'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Quebec
Quebec ( ; )According to the Canadian government, ''Québec'' (with the acute accent) is the official name in Canadian French and ''Quebec'' (without the accent) is the province's official name in Canadian English is one of the thirteen provinces and territories of Canada. It is the largest province by area and the second-largest by population. Much of the population lives in urban areas along the St. Lawrence River, between the most populous city, Montreal, and the provincial capital, Quebec City. Quebec is the home of the Québécois nation. Located in Central Canada, the province shares land borders with Ontario to the west, Newfoundland and Labrador to the northeast, New Brunswick to the southeast, and a coastal border with Nunavut; in the south it borders Maine, New Hampshire, Vermont, and New York in the United States. Between 1534 and 1763, Quebec was called ''Canada'' and was the most developed colony in New France. Following the Seven Years' War, Quebec b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
UTP4
''UTP4'' is a gene that encodes the protein Cirhin, the gene is also known as ''CIRH1A'' and ''NAIC''. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to ''UTP4'' have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is the impaired liver function caused by the formation of scar tissue known as fibrosis due to damage caused by liver disease. Damage causes tissue repai ... of the liver occurring in American Indian children from the Abitibi region of northern Quebec. References Further reading * * * * * External links * {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ribosomopathy
Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis. Ribosomes Ribosomes are essential for protein synthesis in all living organisms. Prokaryotic and eukaryotic ribosomes both contain a scaffold of ribosomal RNA (rRNA) on which are arrayed an extensive variety of ribosomal proteins (RP). Ribosomopathies can arise from abnormalities of either rRNA or the various RPs. The nomenclature of rRNA subunits is derived from each component's Svedberg unit, which is an ultracentrifuge sedimentation coefficient, that is affected by mass and also shape. These S units of the rRNA subunits cannot simply be added because they represent measures of sedimentation rate rather than of mass. Eukaryotic ribosomes are somewhat larger and more complex than prokaryotic ribosomes. The overall 80S eukaryotic rRNA structure is composed of a large 60S subunit (LSU) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biliary Cirrhosis
Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver. It results from a slow, progressive destruction of the small bile ducts of the liver, causing bile and other toxins to build up in the liver, a condition called cholestasis. Further slow damage to the liver tissue can lead to scarring, fibrosis, and eventually cirrhosis. Common symptoms are tiredness, itching, and in more advanced cases, jaundice. In early cases, the only changes may be those seen in blood tests. PBC is a relatively rare disease, affecting up to one in 3,000–4,000 people. It is much more common in women, with a sex ratio of at least 9:1 female to male. The condition has been recognised since at least 1851, and was named "primary biliary cirrhosis" in 1949. Because cirrhosis is a feature only of advanced disease, a change of its name to "primary biliary cholangitis" was proposed by patient advocacy groups in 2014. Signs and symptoms Peo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrosis
Fibrosis, also known as fibrotic scarring, is a pathological wound healing in which connective tissue replaces normal parenchymal tissue to the extent that it goes unchecked, leading to considerable tissue remodelling and the formation of permanent scar tissue. Repeated injuries, chronic inflammation and repair are susceptible to fibrosis where an accidental excessive accumulation of extracellular matrix components, such as the collagen is produced by fibroblasts, leading to the formation of a permanent fibrotic scar. In response to injury, this is called scarring, and if fibrosis arises from a single cell line, this is called a fibroma. Physiologically, fibrosis acts to deposit connective tissue, which can interfere with or totally inhibit the normal architecture and function of the underlying organ or tissue. Fibrosis can be used to describe the pathological state of excess deposition of fibrous tissue, as well as the process of connective tissue deposition in healing. Define ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organ Transplantation
Organ transplantation is a medical procedure in which an organ (anatomy), organ is removed from one body and placed in the body of a recipient, to replace a damaged or missing organ. The donor and recipient may be at the same location, or organs may be transported from a Organ donation, donor site to another location. Organ (anatomy), Organs and/or Tissue (biology), tissues that are transplanted within the same person's body are called autografts. Transplants that are recently performed between two subjects of the same species are called allografts. Allografts can either be from a living or cadaveric source. Organs that have been successfully transplanted include the Heart transplantation, heart, Kidney transplantation, kidneys, Liver transplantation, liver, Lung transplantation, lungs, Pancreas transplantation, pancreas, Intestinal transplant, intestine, Thymus transplantation, thymus and uterus transplantation, uterus. Tissues include Bone grafting, bones, tendons (both referr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
