|
Pleasantine Mill
Pleasantine Mill is a cell biologist and group leader at the MRC Human Genetics Unit at the University of Edinburgh. She won the 2018 British Society for Cell Biology Women in Cell Biology Early Career Medal. Early life and education Mill completed her bachelor's degree at McGill University in 1999. She joined University of Toronto for her PhD, working on transcription factors in the Hedgehog signaling pathway in skin development and tumorigenesis supervised by Chi-chung Hui. Her work contributed to the book ''Hedgehog-Gli Signaling in Human Disease.'' She worked at the Hospital for Sick Children and earned her PhD in 2004. Career and research Mill was awarded a Canadian Natural Sciences and Engineering Research Council (NSERC) postdoctoral research fellowship to join the Medical Research Council (MRC) Human Genetics Unit (HGU). She worked on mouse mutagenesis. During her postdoctoral work she identified several novel mutant lines that disrupted developmental signalling ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Edinburgh
The University of Edinburgh ( sco, University o Edinburgh, gd, Oilthigh Dhùn Èideann; abbreviated as ''Edin.'' in post-nominals) is a public research university based in Edinburgh, Scotland. Granted a royal charter by King James VI in 1582 and officially opened in 1583, it is one of Scotland's four ancient universities and the sixth-oldest university in continuous operation in the English-speaking world. The university played an important role in Edinburgh becoming a chief intellectual centre during the Scottish Enlightenment and contributed to the city being nicknamed the " Athens of the North." Edinburgh is ranked among the top universities in the United Kingdom and the world. Edinburgh is a member of several associations of research-intensive universities, including the Coimbra Group, League of European Research Universities, Russell Group, Una Europa, and Universitas 21. In the fiscal year ending 31 July 2021, it had a total income of £1.176 billion, of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Research Council (United Kingdom)
The Medical Research Council (MRC) is responsible for co-coordinating and funding medical research in the United Kingdom. It is part of United Kingdom Research and Innovation (UKRI), which came into operation 1 April 2018, and brings together the UK's seven research councils, Innovate UK and Research England. UK Research and Innovation is answerable to, although politically independent from, the Department for Business, Energy and Industrial Strategy. The MRC focuses on high-impact research and has provided the financial support and scientific expertise behind a number of medical breakthroughs, including the development of penicillin and the discovery of the structure of DNA. Research funded by the MRC has produced 32 Nobel Prize winners to date. History The MRC was founded as the Medical Research Committee and Advisory Council in 1913, with its prime role being the distribution of medical research funds under the terms of the National Insurance Act 1911. This was a consequen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RPGR
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the ''RPGR'' gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments. Function This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. The two major isoforms are RPGRconst, the default isoform, composed of exons 1-19, and RPGRORF15 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience " tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents or rarely it can be caused by a miscoding during DNA division. It is caused by genetic miscoding of proteins in one of more than 300 genes involved. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). However, when the rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photorece ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive Inheritance
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinitis Pigmentosa GTPase Regulator
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the ''RPGR'' gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments. Function This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. The two major isoforms are RPGRconst, the default isoform, composed of exons 1-19, and RPGRORF15 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
UK Research And Innovation
UK Research and Innovation (UKRI) is a non-departmental public body of the Government of the United Kingdom that directs research and innovation funding, funded through the science budget of the Department for Business, Energy and Industrial Strategy. History and role Established on 1 April 2018 by the Higher Education and Research Act 2017, UKRI brought nine organisations into one unified body. UKRI was created following a report by Sir Paul Nurse, the President of the Royal Society, who recommended the merger in order to increase integrative cross-disciplinary research. Working in partnership with universities, research organisations, businesses, charities and government, its mission is to foster research and development within the United Kingdom and create a positive "impact" – "push the frontiers of human knowledge and understanding", "deliver economic impact" and "create social and cultural impact". The first Chief Executive Officer of UKRI was the immunologist Profess ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ciliopathy
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy. Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with unexpected proteins such as XPNPEP3, which localizes to mitochondri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many area ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small Interfering RNA
Small interfering RNA (siRNA), sometimes known as short interfering RNA or silencing RNA, is a class of double-stranded RNA at first non-coding RNA molecules, typically 20-24 (normally 21) base pairs in length, similar to MicroRNA, miRNA, and operating within the RNA interference (RNAi) pathway. It interferes with the gene expression, expression of specific genes with complementary nucleotide sequences by degrading mRNA after transcription, preventing translation (biology), translation. Text was copied from this source, which is available under Creative Commons Attribution 4.0 International License Structure Naturally occurring siRNAs have a well-defined structure that is a short (usually 20 to 24-base pair, bp) double-stranded RNA (dsRNA) with phosphorylation, phosphorylated 5' ends and hydroxylation, hydroxylated 3' ends with two overhanging nucleotides. The Dicer enzyme catalyzes production of siRNAs from long dsRNAs and small hairpin RNAs. siRNAs can also be introduce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cilium
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion. There are two major classes of cilia: ''motile'' and ''non-motile'' cilia, each with a subtype, giving four types in all. A cell will typically have one primary cilium or many motile cilia. The structure of the cilium core called the axoneme determines the cilium class. Most motile cilia have a central pair of single microtubules surrounded by nine pairs of double microtubules called a 9+2 axoneme. Most non-motile cilia have a 9+0 axoneme that lacks the central pair ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fellow
A fellow is a concept whose exact meaning depends on context. In learned or professional societies, it refers to a privileged member who is specially elected in recognition of their work and achievements. Within the context of higher educational institutions, a fellow can be a member of a highly ranked group of teachers at a particular college or university or a member of the governing body in some universities (such as the Fellows of Harvard College); it can also be a specially selected postgraduate student who has been appointed to a post (called a fellowship) granting a stipend, research facilities and other privileges for a fixed period (usually one year or more) in order to undertake some advanced study or research, often in return for teaching services. In the context of research and development-intensive large companies or corporations, the title "fellow" is sometimes given to a small number of senior scientists and engineers. In the context of medical education in N ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
.svg "Click for more on -> X-linked Recessive Inheritance")
