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Anne Goriely
Anne Goriely is a Belgian geneticist who is a professor of human genetics at the University of Oxford. Her research investigates the molecular mechanisms that underpin genetic variation, particularly mutations in the male germline. Early life and education Goriely was an undergraduate student in agronomy at the Université libre de Bruxelles. Her doctoral research investigated the developmental biology of nervous systems in the fruit fly ''Drosophila melanogaster''. She was a graduate researcher at the Weill Cornell Medicine and Rockefeller University. She is the sister of Alain Goriely. Research and career In 2000, Goriely joined the University of Oxford as a postdoctoral researcher with Andrew Wilkie. She remained in Oxford to establish her own research group in clinical genetics. She studies mutations – the origin of all genetic variations. By investigating and understanding mutations, Goriely aims to better understand disease and evolution. As mutations arise from r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Oxford
, mottoeng = The Lord is my light , established = , endowment = £6.1 billion (including colleges) (2019) , budget = £2.145 billion (2019–20) , chancellor = The Lord Patten of Barnes , vice_chancellor = Louise Richardson , students = 24,515 (2019) , undergrad = 11,955 , postgrad = 12,010 , other = 541 (2017) , city = Oxford , country = England , coordinates = , campus_type = University town , athletics_affiliations = Blue (university sport) , logo_size = 250px , website = , logo = University of Oxford.svg , colours = Oxford Blue , faculty = 6,995 (2020) , academic_affiliations = , The University of Oxford is a collegiate research university in Oxf ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Andrew Wilkie (geneticist)
Andrew Oliver Mungo Wilkie (born 14 September 1959) is a clinical geneticist who has been the Nuffield professor of Pathology at the University of Oxford since 2003. One or more of the preceding sentences incorporates text from the royalsociety.org website where: Education Wilkie was educated at Arnold House School, Westminster School and Trinity College, Cambridge, where he was awarded a Bachelor of Arts degree in 1980 and a Master of Arts degree in 1984. He moved to Merton College, Oxford, where he was awarded a Bachelor of Medicine, Bachelor of Surgery degree in 1983 and subsequently a Doctor of Medicine degree in 1992. Research Wilkie's research investigates genetic disorders affecting the skull and limbs, especially craniosynostosis – premature fusion of the sutures of the skull. He identified the gene mutation responsible for Apert syndrome and the molecular pathways underlying this and other craniosynostosis conditions. These results have led to many clinical diagnost ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Factor Receptor
A growth factor receptor is a receptor that binds to a growth factor. Growth factor receptors are the first stop in cells where the signaling cascade for cell differentiation and proliferation begins. Growth factors, which are ligands that bind to the receptor are the initial step to activating the growth factor receptors and tells the cell to grow and/or divide. These receptors may use the JAK/STAT, MAP kinase, and PI3 kinase pathways. A majority of growth factor receptors consists of receptor tyrosine kinases (RTKs). There are 3 dominant receptor types that are exclusive to research : the epidermal growth factor receptor, the neurotrophin receptor, and the insulin receptors. All growth factor receptors are membrane bound and composed of 3 general protein domains: extracellular, transmembrane, and cytoplasmic. The extracellular domain region is where a ligand may bind, usually with very high specificity. In RTKs, the binding of a ligand to the extracellular ligand binding sit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oncogenesis
Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells. The process is characterized by changes at the cellular, genetic, and epigenetic levels and abnormal cell division. Cell division is a physiological process that occurs in almost all tissues and under a variety of circumstances. Normally, the balance between proliferation and programmed cell death, in the form of apoptosis, is maintained to ensure the integrity of tissues and organs. According to the prevailing accepted theory of carcinogenesis, the somatic mutation theory, mutations in DNA and epimutations that lead to cancer disrupt these orderly processes by interfering with the programming regulating the processes, upsetting the normal balance between proliferation and cell death. This results in uncontrolled cell division and the evolution of those cells by natural selection in the body. Only certain mutations lead to cancer w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paternal Age Effect
The paternal age effect is the statistical relationship between the father's age at conception and biological effects on the child. Such effects can relate to birthweight, congenital disorders, life expectancy and psychological outcomes. A 2017 review found that while severe health effects are associated with higher paternal age, the total increase in problems caused by paternal age is low. While paternal age has increased since 1960–1970, this is not seen as a major public health concern. The genetic quality of sperm, as well as its volume and motility, all may decrease with age, leading the population geneticist James F. Crow to claim that the "greatest mutational health hazard to the human genome is fertile older males". The paternal age effect was first proposed implicitly by physician Wilhelm Weinberg in 1912 and explicitly by psychiatrist Lionel Penrose in 1955. DNA-based research started more recently, in 1998, in the context of paternity testing. Health effects Evide ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Guardian
''The Guardian'' is a British daily newspaper. It was founded in 1821 as ''The Manchester Guardian'', and changed its name in 1959. Along with its sister papers ''The Observer'' and ''The Guardian Weekly'', ''The Guardian'' is part of the Guardian Media Group, owned by the Scott Trust. The trust was created in 1936 to "secure the financial and editorial independence of ''The Guardian'' in perpetuity and to safeguard the journalistic freedom and liberal values of ''The Guardian'' free from commercial or political interference". The trust was converted into a limited company in 2008, with a constitution written so as to maintain for ''The Guardian'' the same protections as were built into the structure of the Scott Trust by its creators. Profits are reinvested in journalism rather than distributed to owners or shareholders. It is considered a newspaper of record in the UK. The editor-in-chief Katharine Viner succeeded Alan Rusbridger in 2015. Since 2018, the paper's main news ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Male Fertility
Fertility is the capability to produce offspring through reproduction following the onset of sexual maturity. The fertility rate is the average number of children born by a female during her lifetime and is quantified demographically. Fertility is addressed when there is a difficulty or an inability to reproduce naturally, which is referred to as infertility. Infertility is widespread, with fertility specialists available all over the world to assist mothers and couples who experience difficulties having a baby. Human fertility depends on factors of nutrition, sexual behaviour, consanguinity, culture, instinct, endocrinology, timing, economics, personality, way of life, and emotions. Fertility differs from fecundity, which is defined as the ''potential'' for reproduction (influenced by gamete production, fertilization and carrying a pregnancy to term). Where a woman or the lack of fertility is infertility while a lack of fecundity would be called sterility. Demography In de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Costello Syndrome
Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and intellectual disabilities, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy. Beginning in early childhood, people with specific mutations on the Costello syndrome gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Noonan Syndrome
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence in the syndrome is often normal. Complications of NS can include leukemia. A number of genetic mutations can result in Noonan syndrome. The condition may be inherited from a person's parents as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves overactivation within the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. Confirmation may be achieved with genetic tes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Achondroplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head and prominent forehead. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. About 80% of cases occur in children of parents of average stature and result f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apert Syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, in the term "acrocephalosyndactyly", ''acro'' is Greek for "peak", referring to the "peaked" head that is common in the syndrome; ''cephalo'', also from Greek, is a combining form meaning "head"; ''syndactyly'' refers to webbing of fingers and toes. In embryology, the hands and feet have selective cells that die in a process called selective cell death, or apoptosis, causing separation of the digits. In the case of acrocephalosyndactyly, selective cell death ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spermatogenesis
Spermatogenesis is the process by which haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis. This process starts with the mitotic division of the stem cells located close to the basement membrane of the tubules. These cells are called spermatogonial stem cells. The mitotic division of these produces two types of cells. Type A cells replenish the stem cells, and type B cells differentiate into primary spermatocytes. The primary spermatocyte divides meiotically (Meiosis I) into two secondary spermatocytes; each secondary spermatocyte divides into two equal haploid spermatids by Meiosis II. The spermatids are transformed into spermatozoa (sperm) by the process of spermiogenesis. These develop into mature spermatozoa, also known as sperm cells. Thus, the primary spermatocyte gives rise to two cells, the secondary spermatocytes, and the two secondary spermatocytes by their subdivision produce four spermatozoa and four haploid cells. Spermatozoa are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
