|
Virchow–Seckel Syndrome
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability. A mouse model has been developed. This mouse model is characterized by a severe deficiency of ATR protein. These mice have high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated aging. These findings are consistent with the DNA damage theory of aging. Symptoms and signs Symptoms include: * intellectual disability (more than half of the patients have an IQ below 50) * microcephaly * sometimes pancytopenia (low blood counts) * cryptorchidism in males * low birt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 3 (human)
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 cell (biology), 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 (Consensus CDS 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Helmut Paul George Seckel
Helmut is a German name. Variants include Hellmut, Helmuth, and Hellmuth. From Old High German, old German, the first element deriving from either ''heil'' ("healthy") or ''hiltja'' ("battle"), and the second from ''muot'' ("spirit, mind, mood"). Helmut may refer to: People A–L *Helmut Angula (born 1945), Namibian politician *Helmut Ashley (1919–2021), Austrian director and cinematographer *Helmut Bakaitis (born 1944), Australian director and actor *Helmut Berger (1944–2023), Austrian actor *Helmut Dantine (1917–1982), Austrian actor *Helmut Deutsch (born 1945), Austrian classical pianist *Helmut Ditsch (born 1962), Argentine painter *Hellmut Diwald (1924–1993), German historian *Helmut Donner (born 1941), Austrian high jumper *Helmut Duckadam (1959–2024), Romanian footballer *Helmut Fischer (1926–1997), German actor *Hellmut von Gerlach (1866–1935), German journalist *Goebbels children#Helmut Christian, Helmut Goebbels (1935–1945), only son of Joseph Goebbels *H ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CEP295
Cep, also called ''porcino'' or ''Boletus edulis'', is an edible mushroom. Cep or CEP may also refer to: Organizations * Campaign for an English Parliament * Centre d'Expérimentations Nucléaires du Pacifique, French operation of nuclear testing in the Pacific between 1963 and 1996 * Centre for Economic Performance, at the London School of Economics * Civic Education Project, promoting pluralism * Clean Energy Partnership, for hydrogen power in Europe * Clean Energy Project, for solar cells, Harvard University * Communications, Energy and Paperworkers Union of Canada * Congregation for the Evangelization of Peoples, a dicastery of the Roman Curia * Corpo Expedicionário Português or Portuguese Expeditionary Corps, military formation during the First World War * Counter Extremism Project Science and technology * Carrier-envelope phase, of a laser pulse * Cep, abbreviation for the Cepheus (constellation) * Circular error probable, of weapon precision * Complex event processi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TRAF Interacting Protein
TRAF-interacting protein is a protein that in humans is encoded by the ''TRAIP'' gene. This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. Interactions TRAF interacting protein has been shown to interact with FLII, TRAF1 and TRAF2. Role in mitotic DNA synthesis Mitotic DNA synthesis (MiDAS) is thought to be a DNA repair mechanism to salvage DNA that has not finished replication during S phase, which may be due to DNA replication stress (RS). Intrinsic sources of RS include transcription-replication conflicts and “difficult-to-replicate’’ regions. Extrinsic RS includes exposure to genotoxic agents, depletion of dNTP ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNA2L
DNA2-like helicase is an enzyme that in humans is encoded by the ''DNA2'' gene. Dna2, a homolog of DNA2KL present in budding yeast, possesses both helicase and nuclease activity, with which it helps catalyze early steps in homologous recombination Homologous recombination is a type of genetic recombination in which genetic information is exchanged between two similar or identical molecules of double-stranded or single-stranded nucleic acids (usually DNA as in Cell (biology), cellular organi .... References Further reading * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NIN (gene)
Ninein is a protein that in humans is encoded by the ''NIN'' gene. Function Ninein, together with its paralog Ninein-like protein is one of the proteins important for centrosomal function. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cell Epithelium or epithelial tissue is a thin, continuous, protective layer of Cell (biology), cells with little extracellular matrix. An example is the epidermis, the outermost layer of the skin. Epithelial (Mesothelium, mesothelial) tissues line ...s. References Further reading * * * * * * * * * * * * * * * * * EF-hand-containing proteins {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CEP63
Centrosomal protein of 63 kDa is a protein that in humans is encoded by the ''CEP63'' gene. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. Function This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation. Interactions CEP63 has been shown to interact with DISC1, CEP152 and CDK1 Cyclin-dependent kinase 1 also known as CDK1 or cell division cycle protein 2 homolog is a highly conserved protein that functions as a serine/threonine protein kinase, and is a key player in cell cycle regulation. It has been highly studied in .... References External links * Further reading * * * * * Centros ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CEP152
Centrosomal protein of 152 kDa, also known as Cep152, is a protein that in humans is encoded by the ''CEP152'' gene. It is the ortholog of the ''Drosophila melanogaster'' gene asterless (asl) and both are required for centriole In cell biology a centriole is a cylindrical organelle composed mainly of a protein called tubulin. Centrioles are found in most eukaryotic cells, but are not present in conifers ( Pinophyta), flowering plants ( angiosperms) and most fungi, an ... duplication. References External links * * Further reading * * * * * * * * * * {{gene-15-stub Centrosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CENPJ
Centromere protein J is a protein that in humans is encoded by the ''CENPJ'' gene. It is also known as centrosomal P4.1-associated protein (CPAP). During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. The ''Drosophila'' ortholog, sas-4, has been shown to be a scaffold for a cytoplasmic complex of Cnn, Asl, CP-190, tubulin and D-PLP (similar to the human proteins PCNT and AKAP9). These complexes are then anchored at the centriole to begin formation of the centrosome. Clinical significance Mutations in ''CENPJ'' are associated with Seckel syndrome type 4 and primary autosomal recessive microcephaly, a disorder c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RBBP8
Retinoblastoma-binding protein 8 is a protein that in humans is encoded by the ''RBBP8'' gene. Function The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. DNA repair RBBP8 is involved in the DNA repair process of homologous recombination. It was proposed that, in gastric cancer cells, inhibition of RBBP8 expression could cause a synthetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
