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Mitochondrial Diseases in Humans

Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen.

Format: Articles

Subject: Disorders, Reproduction

Amphioxus, and the Mosaic Theory of Development (1893), by Edmund Beecher Wilson

Edmund Beecher Wilson experimented with Amphioxus (Branchiostoma) embryos in 1892 to identify what caused their cells to differentiate into new types of cells during the process of development. Wilson shook apart the cells at early stages of embryonic development, and he observed the development of the isolated cells. He observed that in the normal development of Amphioxus, all three main types of symmetry, or cleavage patterns observed in embryos, could be found. Wilson proposed a hypothesis that reformed the Mosaic Theory associated with Wilhelm Roux in Germany.

Format: Articles

Subject: Experiments

Cerebral Organoid as a Model System in the Study of Microcephaly

Scientists use cerebral organoids, which are artificially produced miniature organs that represent embryonic or fetal brains and have many properties similar to them, to help them study developmental disorders like microcephaly. In human embryos, cerebral tissue in the form of neuroectoderm appears within the first nine weeks of human development, and it gives rise to the brain and spinal cord.

Format: Articles

Subject: Technologies

Telomeres and Telomerase in Cellular Aging (Senescence)

Telomeres are sequences of DNA on the ends of chromosomes that protect chromosomes from sticking to each other or tangling, which could cause irregularities in normal DNA functions. As cells replicate, telomeres shorten at the end of chromosomes, which correlates to senescence or cellular aging. Integral to this process is telomerase, which is an enzyme that repairs telomeres and is present in various cells in the human body, especially during human growth and development.

Format: Articles

Subject: Theories

Stanley Alan Plotkin's Development of a Rubella Vaccine (1969)

In the US during the late 1960s, Stanley Alan Plotkin, John D. Farquhar, Michael Katz, and Fritz Buser isolated a strain of the infectious disease rubella and developed a rubella vaccine with a weakened, or attenuated, version of the virus strain. Rubella, also called German measles, is a highly contagious disease caused by the rubella virus that generally causes mild rashes and fever. However, in pregnant women, rubella infections can lead to developmental defects in their fetuses.

Format: Articles

Subject: Experiments

Chloroplasts

Chloroplasts are the organelles in plant and algal cells that conduct photosynthesis. A single chloroplast has an outer membrane and an inner membrane, with an intermembrane space in between. Within the inner membrane, interconnected stacks of thylakoids, called granum, float in a protein rich fluid called the stroma. These thylakoid stacks contain chlorophyll, a pigment which converts sunlight into usable energy for plants and free oxygen from water. The stacks are sites of light reactions within a plant cell.

Format: Graphics

Subject: Theories, Processes

Francis Sellers Collins (1950- )

Francis Sellers Collins helped lead the International Human Genome Sequencing Consortium, which helped describe the DNA sequence of the human genome by 2001, and he helped develop technologies used in molecular genetics while working in the US in the twentieth and twenty-first centuries. He directed the US National Center for Human Genome Research (NCHGR), which became the National Human Genome Research Institute (NHGRI), of the US National Institutes of Health (NIH), located in Bethesda, Maryland, from 1993 to 2008.

Format: Articles

Subject: People

Walter Stanborough Sutton (1877-1916)

Walter Stanborough Sutton studied grasshoppers and connected the phenomena of meiosis, segregation, and independent assortment with the chromosomal theory of inheritance in the early twentieth century in the US. Sutton researched chromosomes, then called inheritance mechanisms. He confirmed a theory of Wilhelm Roux, who studied embryos in Breslau, Germany, in the late 1880s, who had argued that chromosomes and heredity were linked. Theodor Boveri, working in Munich, Germany, independently reached similar conclusions about heredity as Sutton.

Format: Articles

Subject: People

Camillo Golgi's Black Reaction for Staining Neurons

In 1873 Italy, Camillo Golgi created the black reaction technique, which enabled scientists to stain and view the structure of neurons, the specialized cells that compose the nervous system. During the nineteenth century, scientists were studying cells and proposed cell theory, which describes the basic characteristics of cells as fundamental units of life. However, cell theory struggled to explain neurons as they are specialized cells and more complex in structure than cells of other tissues.

Format: Articles

Subject: Technologies

Zidovudine or azidothymidine

In 1964, Jerome Horwitz synthesized the drug zidovudine, commonly abbreviated ZDV, otherwise known as azidothymidine, or AZT, at Wayne State University School of Medicine in Detroit, Michigan. Horwitz and his colleagues originally developed zidovudine to treat cancers caused by retroviruses. In 1983, Nobel Prize in Physiology or Medicine recipients Françoise Barré-Sinoussi and Luc Montagnier discovered a new retrovirus, the human immunodeficiency virus, or HIV, at the Pasteur Institute in Paris, France.

Format: Articles

Subject: Processes

Mechanism of Notch Signaling

Mechanism of Notch Signaling: The image depicts a type of cell signaling, in which two animal cells interact and transmit a molecular signal from one to the other. The process results in the production of proteins, which influence the cells as they differentiate, move, and contribute to embryological development. In the membrane of the signaling cell, there is a ligand (represented by a green oval). The ligand functions to activate a change in a receptor molecule. In the receiving cell, there are receptors; in this case, Notch proteins (represented by orange forks).

Format: Graphics

Subject: Theories, Processes

Mitochondria

All cells that have a nucleus, including plant, animal, fungal cells, and most single-celled protists, also have mitochondria. Mitochondria are particles called organelles found outside the nucleus in a cell's cytoplasm. The main function of mitochondria is to supply energy to the cell, and therefore to the organism. The theory for how mitochondria evolved, proposed by Lynn Margulis in the twentieth century, is that they were once free-living organisms.

Format: Articles

Subject: Organisms, Theories

The Inheritance of Acquired Characteristics (1924), by Paul Kammerer

The Inheritance of Acquired Characteristics is a book published in 1924, written by Paul Kammerer, who studied developmental biology in Vienna, Austria, in the early twentieth century. The Inheritance of Acquired Characteristics summarizes Kammerer's experiments, and explains their significance. In his book, Kammerer aims to explain how offspring inherit traits from their parents. Some scholars criticized Kammerer's reports and interpretations, arguing that they were inaccurate and misleading, while others supported Kammerer's work.

Format: Articles

Subject: Publications, Theories

Stanley Alan Plotkin (1932– )

Stanley Alan Plotkin developed vaccines in the United States during the mid to late twentieth century. Plotkin began his research career at the Wistar Institute in Philadelphia, Pennsylvania, where he studied the rubella virus. In pregnant women, the rubella virus caused congenital rubella syndrome in the fetus, which led to various malformations and birth defects. Using WI-38 cells, a line of cells that originated from tissues of aborted fetuses, Plotkin successfully created RA27/3, a weakened strain of the rubella virus, which he then used to develop a rubella vaccine.

Format: Articles

Subject: People

"On the Induction of Embryonic Primordia by Implantation of Organizers from Different Species" (1924), Hilde Mangold's Dissertation

Hilde Proscholdt Mangold was a doctoral student at the Zoological Institute at the University of Freiburg in Freiburg, Germany, from 1920-1923. Mangold conducted research for her dissertation 'On the Induction of Embryonic Primordia by Implantation of Organizers from Different Species' ('Ueber Induktion von Embryonanlagen durch Implantation artfremder Organisatoren'), under the guidance of Hans Spemann, a professor of zoology at the University of Freiburg.

Format: Articles

Subject: Experiments, Publications

Ectoderm

Ectoderm is one of three germ layers--groups of cells that coalesce early during the embryonic life of all animals except maybe sponges, and from which organs and tissues form. As an embryo develops, a single fertilized cell progresses through multiple rounds of cell division. Eventually, the clump of cells goes through a stage called gastrulation, during which the embryo reorganizes itself into the three germ layers: endoderm, ectoderm, and mesoderm. After gastrulation, the embryo goes through a process called neurulation, which starts the development of nervous system.

Format: Articles

Subject: Processes

Craig C. Mello (1960- )

Craig C. Mello is an American developmental biologist and Nobel Laureate, who helped discover RNA interference (RNAi). Along with his colleague Andrew Fire, he developed gene knockouts using RNAi. In 006 Mello won the Nobel Prize in Physiology or Medicine for his contribution. Mello also contributed to developmental biology, focusing on gene regulation, cell signaling, cleavage formation, germline determination, cell migration, cell fate differentiation, and morphogenesis.

Format: Articles

Subject: People

“Survival of Mouse Embryos Frozen to -196 ° and -269 °C” (1972), by David Whittingham, Stanley Leibo, and Peter Mazur

In 1972, David Whittingham, Stanley Leibo, and Peter Mazur published the paper, “Survival of Mouse Embryos Frozen to -196 ° and -269 °C,” hereafter, “Survival of Mouse Embryos,” in the journal Science. The study marked one of the first times that researchers had successfully cryopreserved, or preserved and stored by freezing, a mammalian embryo and later transferred that embryo to a live mouse who gave birth to viable offspring. Previously, scientists had only been successful cryopreserving single cells, like red blood cells.

Format: Articles

Subject: Experiments, Publications

Epithelium

Frederik Ruysch, working in the Netherlands, introduced the term epithelia in the third volume of his Thesaurus Anatomicus in 1703. Ruysch created the term from the Greek epi, which means on top of, and thele, which means nipple, to describe the type of tissue he found when dissecting the lip of a cadaver. In the mid nineteenth century, anatomist Albrecht von Haller adopted the word epithelium, designating Ruysch's original terminology as the plural version. In modern science, epithelium is a type of animal tissue in which cells are packed into neatly arranged sheets.

Format: Articles

Subject: Theories, Processes

DNA and X and Y Chromosomes

Y-chromosomes exist in the body cells of many kinds of male animals. Found in the nucleus of most living animal cells, the X and Y-chromosomes are condensed structures made of DNA wrapped around proteins called histones. The individual histones bunch into groups that the coiled DNA wraps around called a nucleosome, which are roughly 10 nano-meters (nm) across. The histones bunch together to form a helical fiber (30 nm) that spins into a supercoil (200 nm). During much of a cell's life, DNA exists in the 200 nm supercoil phase.

Format: Graphics

Subject: Theories, Processes

"Experiments on Embryonic Induction III. A Note on Inductions by Chick Primitive Streak Transplanted to the Rabbit Embryo" (1934), by Conrad Hal Waddington

Conrad Hal Waddington's "Experiments on Embryonic Induction III," published in 1934 in the Journal of Experimental Biology, describes the discovery that the primitive streak induces the mammalian embryo. Waddington's hypothesis was that a transplanted primitive streak could induce neural tissue in the ectoderm of the rabbit embryo. The primitive streak defines the axis of an embryo and is capable of inducing the differentiation of various tissues in a developing embryo during gastrulation.

Format: Articles

Subject: Experiments

Beadle's One Gene-One Enzyme Hypothesis

Between 1934 and 1945, George Beadle developed a hypothesis that each gene within the chromosomes of organisms each produced one enzyme. Enzymes are types of proteins that can catalyze reactions inside cells, and the figure shows that each enzyme controls a stage in a series of biochemical reactions. The top box in this figure represents a normal process of enzyme production and biochemical reactions, and the bottom box shows how Beadle's experiments affected the normal biochemical process.

Format: Graphics

Subject: Theories, Processes

"Proliferation, Differentiation and Degeneration in the Spinal Ganglia of the Chick Embryo under Normal and Experimental Conditions" (1949), by Viktor Hamburger and Rita Levi-Montalcini

In this paper Viktor Hamburger and Rita Levi-Montalcini collaborated to examine the effects of limb transplantation and explantation on neural development. In 1947 Hamburger invited Levi-Montalcini to his lab at Washington University in St. Louis to examine this question. Independently, each had previously arrived at opposing conclusions based on the same data.

Format: Articles

Subject: Experiments

Julia Barlow Platt's Embryological Observations on Salamanders' Cartilage (1893)

In 1893, Julia Barlow Platt published her research on the origins of cartilage in the developing head of the common mudpuppy (Necturus maculosus) embryo. The mudpuppy is an aquatic salamander commonly used by embryologists because its large embryonic cells and nuclei are easy to see. Platt followed the paths of cells in developing mudpuppy embryos to see how embryonic cells migrated during the formation of the head. With her research, Platt challenged then current theories about germ layers, the types of cells in an early embryo that develop into adult cells.

Format: Articles

Subject: Experiments, Theories, Processes

Mitochondrial DNA (mtDNA)

Mitochondrial DNA (mtDNA) is located outside the nucleus in the liquid portion of the cell (cytoplasm) inside cellular organelles called Mitochondria. Mitochondria are located in all complex or eukaryotic cells, including plant, animal, fungi, and single celled protists, which contain their own mtDNA genome. In animals with a backbone, or vertebrates, mtDNA is a double stranded, circular molecule that forms a circular genome, which ranges in size from sixteen to eighteen kilo-base pairs, depending on species. Each mitochondrion in a cell can have multiple copies of the mtDNA genome.

Format: Articles

Subject: Theories