|
WNT4 Deficiency
WNT4 deficiency is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina. WNT4 deficiency is caused by mutations of the WNT4 gene. Abnormally high androgen levels are found in the blood and can initiate and promote the development of male sex characteristics. This is seen as male pattern of hair growth on the chest and face. Those with this genetic defect develop breasts but do not have their period. Mayer–Rokitansky–Küster–Hauser syndrome is a related but distinct syndrome. Some women who have an initial diagnosis of MRKH have later been found to have WNT4 deficiency. Most women with MRKH syndrome do not have genetic mutations of the WNT4 gene. The failure to begin the menstrual cycle may be the initial clinical sign of WNT4 deficiency. WNT4 deficiency can cause significant psychological challenges and counseling is recommended. Signs and Symptoms The case reports for WNT4 deficiency are few ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uterus
The uterus (from Latin ''uterus'', plural ''uteri'') or womb () is the organ in the reproductive system of most female mammals, including humans that accommodates the embryonic and fetal development of one or more embryos until birth. The uterus is a hormone-responsive sex organ that contains glands in its lining that secrete uterine milk for embryonic nourishment. In the human, the lower end of the uterus, is a narrow part known as the isthmus that connects to the cervix, leading to the vagina. The upper end, the body of the uterus, is connected to the fallopian tubes, at the uterine horns, and the rounded part above the openings to the fallopian tubes is the fundus. The connection of the uterine cavity with a fallopian tube is called the uterotubal junction. The fertilized egg is carried to the uterus along the fallopian tube. It will have divided on its journey to form a blastocyst that will implant itself into the lining of the uterus – the endometrium, where it will ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Female Reproductive System
The female reproductive system is made up of the internal and external sex organs that function in the reproduction of new offspring. In humans, the female reproductive system is immature at birth and develops to maturity at puberty to be able to produce gametes, and to carry a fetus to full term. The internal sex organs are the vagina, uterus, fallopian tubes, and ovaries. The female reproductive tract includes the vagina, uterus, and fallopian tubes and is prone to infections. The vagina allows for sexual intercourse and childbirth, and is connected to the uterus at the cervix. The uterus or womb accommodates the embryo which develops into the fetus. The uterus also produces secretions which help the transit of sperm to the fallopian tubes, where sperm fertilize ova (egg cells) produced by the ovaries. The external sex organs are also known as the ''genitals'' and these are the organs of the vulva including the labia, clitoris, and vaginal opening. During the menstrual cycle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wnt Signaling Pathway
The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans. Three Wnt signaling pathways have been characterized: the canonical Wnt pathway, the noncanonical planar cell polarity pathway, and the noncanonical Wnt/calcium pathway. All three pathways are activated by the binding of a Wnt-protein ligand to a Frizzled family receptor, which passes the biological signal to the Dishevelled protein inside the cell. The canonical Wnt pathway leads to regulation of gene transcription, and is thought to be negatively regulated in part by the SPATS1 gene. The noncanonical plana ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
G Protein-coupled Receptor
G protein-coupled receptors (GPCRs), also known as seven-(pass)-transmembrane domain receptors, 7TM receptors, heptahelical receptors, serpentine receptors, and G protein-linked receptors (GPLR), form a large group of evolutionarily-related proteins that are cell surface receptors that detect molecules outside the cell and activate cellular responses. Coupling with G proteins, they are called seven-transmembrane receptors because they pass through the cell membrane seven times. Text was copied from this source, which is available under Attribution 2.5 Generic (CC BY 2.5) license. Ligands can bind either to extracellular N-terminus and loops (e.g. glutamate receptors) or to the binding site within transmembrane helices (Rhodopsin-like family). They are all activated by agonists although a spontaneous auto-activation of an empty receptor can also be observed. G protein-coupled receptors are found only in eukaryotes, including yeast, choanoflagellates, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcriptional Regulation
In molecular biology and genetics, transcriptional regulation is the means by which a cell regulates the conversion of DNA to RNA (transcription), thereby orchestrating gene activity. A single gene can be regulated in a range of ways, from altering the number of copies of RNA that are transcribed, to the temporal control of when the gene is transcribed. This control allows the cell or organism to respond to a variety of intra- and extracellular signals and thus mount a response. Some examples of this include producing the mRNA that encode enzymes to adapt to a change in a food source, producing the gene products involved in cell cycle specific activities, and producing the gene products responsible for cellular differentiation in multicellular eukaryotes, as studied in evolutionary developmental biology. The regulation of transcription is a vital process in all living organisms. It is orchestrated by transcription factors and other proteins working in concert to finely tune t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frizzled
Frizzled is a family of atypical G protein-coupled receptors that serve as receptors in the Wnt signaling pathway and other signaling pathways. When activated, Frizzled leads to activation of Dishevelled in the cytosol. Species distribution Frizzled proteins and the genes that encode them have been identified in an array of animals, from sponges to humans. Function Frizzled proteins also play key roles in governing cell polarity, embryonic development, formation of neural synapses, cell proliferation, and many other processes in developing and adult organisms. These processes occur as a result of one of three signaling pathways. These include the canonical Wnt/β-catenin pathway, Wnt/calcium pathway, and planar cell polarity (PCP) pathway. Mutations in the human frizzled-4 receptor have been linked to familial exudative vitreoretinopathy, a rare disease affecting the retina at the back of the eye, and the vitreous, the clear fluid inside the eye. The frizzled (fz) locu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ideogram Human Chromosome 1
An ideogram or ideograph (from Greek "idea" and "to write") is a graphic symbol that represents an idea or concept, independent of any particular language, and specific words or phrases. Some ideograms are comprehensible only by familiarity with prior convention; others convey their meaning through pictorial resemblance to a physical object, and thus may also be referred to as '' pictograms''. The numerals and mathematical symbols are ideograms – 1 'one', 2 'two', + 'plus', = 'equals', and so on (compare the section "Mathematics" below). In English, the ampersand & is used for 'and' and (as in many languages) for Latin ' (as in &c for '), % for 'percent In mathematics, a percentage (from la, per centum, "by a hundred") is a number or ratio expressed as a fraction of 100. It is often denoted using the percent sign, "%", although the abbreviations "pct.", "pct" and sometimes "pc" are also use ...' ('per cent'), # for 'number' (or 'pound', among other meanings) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ... [...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] |
Oocyte
An oocyte (, ), oöcyte, or ovocyte is a female gametocyte or germ cell involved in reproduction. In other words, it is an immature ovum, or egg cell. An oocyte is produced in a female fetus in the ovary during female gametogenesis. The female germ cells produce a primordial germ cell (PGC), which then undergoes mitosis, forming oogonia. During oogenesis, the oogonia become primary oocytes. An oocyte is a form of genetic material that can be collected for cryoconservation. Formation The formation of an oocyte is called oocytogenesis, which is a part of oogenesis. Oogenesis results in the formation of both primary oocytes during fetal period, and of secondary oocytes after it as part of ovulation. Characteristics Cytoplasm Oocytes are rich in cytoplasm, which contains yolk granules to nourish the cell early in development. Nucleus During the primary oocyte stage of oogenesis, the nucleus is called a germinal vesicle. The only normal human type of secondary oocyte has t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cervix
The cervix or cervix uteri (Latin, 'neck of the uterus') is the lower part of the uterus (womb) in the human female reproductive system. The cervix is usually 2 to 3 cm long (~1 inch) and roughly cylindrical in shape, which changes during pregnancy. The narrow, central cervical canal runs along its entire length, connecting the uterine cavity and the lumen of the vagina. The opening into the uterus is called the internal os, and the opening into the vagina is called the external os. The lower part of the cervix, known as the vaginal portion of the cervix (or ectocervix), bulges into the top of the vagina. The cervix has been documented anatomically since at least the time of Hippocrates, over 2,000 years ago. The cervical canal is a passage through which sperm must travel to fertilize an egg cell after sexual intercourse. Several methods of contraception, including cervical caps and cervical diaphragms, aim to block or prevent the passage of sperm through the cervical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fallopian Tube
The fallopian tubes, also known as uterine tubes, oviducts or salpinges (singular salpinx), are paired tubes in the human female that stretch from the uterus to the ovaries. The fallopian tubes are part of the female reproductive system. In other mammals they are only called oviducts. Each tube is a muscular hollow organ that is on average between 10 and 14 cm in length, with an external diameter of 1 cm. It has four described parts: the intramural part, isthmus, ampulla, and infundibulum with associated fimbriae. Each tube has two openings a proximal opening nearest and opening to the uterus, and a distal opening furthest and opening to the abdomen. The fallopian tubes are held in place by the mesosalpinx, a part of the broad ligament mesentery that wraps around the tubes. Another part of the broad ligament, the mesovarium suspends the ovaries in place. An egg cell is transported from an ovary to a fallopian tube where it may be fertilized in the ampulla of the tu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
_2088.jpg "Click for more on -> Ideogram Human Chromosome 1")
