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HESX1
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the ''HESX1'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis. Clinical significance Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome. References Further reading * * * * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview* Transcription factors {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Septo-optic Dysplasia
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two or more of these features need to be present for a clinical diagnosis — only 30% of patients have all three. French-Swiss doctor Georges de Morsier first recognized the relation of a rudimentary or absent septum pellucidum with hypoplasia of the optic nerves and chiasm in 1956. Signs and symptoms The symptoms of SOD can be divided into those related to optic nerve underdevelopment, pituitary hormone abnormalities, or mid-line brain abnormalities. Symptoms may vary greatly in their severity. Optic nerve underdevelopment About one quarter of people with SOD have significant visual impairment in one or both eyes, as a result of optic nerve underdevelopment. Developmental delays are more common in chi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pickardt Syndrome
Pickardt syndrome denotes a rare form of tertiary hypothyroidism that is caused by interruption of the portal veins connecting hypothalamus and pituitary.It was characterized in 1972 and 1973 by Renate Pickardt and Rudolf Fahlbusch. Signs and symptoms Cause Interruption of the portal system may be caused by tumors compressing the infundibulum. Other causes for Pickardt's syndrome are inflammatory disorders and traumatic brain injury. An inborn variant of Pickardt's syndrome that is associated with certain mutations (HESX1 or LHX4) is referred to as ''pituitary stalk interruption syndrome (PSIS)''. Endocrine consequences Typical manifestations of Pickardt–Fahlbusch syndrome are hypothyroidism with reduced TSH values and functional hyperprolactinemia (which is caused by disinhibition of prolactin release). Other endocrine disorders that are usually associated with Pickardt syndrome are suprasellar failures like secondary hypogonadism, reduced levels of growth hormone and, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homeobox
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full-grown organism. Homeoboxes are found within genes that are involved in the regulation of patterns of anatomical development ( morphogenesis) in animals, fungi, plants, and numerous single cell eukaryotes. Homeobox genes encode homeodomain protein products that are transcription factors sharing a characteristic protein fold structure that binds DNA to regulate expression of target genes. Homeodomain proteins regulate gene expression and cell differentiation during early embryonic development, thus mutations in homeobox genes can cause developmental disorders. Homeosis is a term coined by William Bateson to describe the outright replacement of a discrete body part with another body part, e.g. antennapedia—replacement of the antenna o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exonuclease 1
Exonuclease 1 is an enzyme that in humans is encoded by the ''EXO1'' gene. This gene encodes a protein with 5' to 3' exonuclease activity as well as RNase activity (endonuclease activity cleaving RNA on DNA/RNA hybrid). It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in DNA mismatch repair and homologous recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. Meiosis ExoI is essential for meiotic progression through metaphase I in the budding yeast ''Saccharomyces cerevisiae'' and in mouse. Recombination during meiosis is often initiated by a DNA double-strand break (DSB) as illustrated in the accompanying diagram. During recombination, sections of DNA at the 5' ends of the break are cut away in a process called ''resection''. In the ''strand invasion'' step that follows, an overhanging 3' end of the broken DNA molecule "invades" the DNA of a homologous chro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Visceral Endoderm
In amniote embryology, the hypoblast, is one of two distinct layers arising from the inner cell mass in the mammalian blastocyst, or from the blastodisc in reptiles and birds. The hypoblast gives rise to the yolk sac, which in turn gives rise to the chorion. The hypoblast is a layer of cells in fish and amniote embryos. The hypoblast helps determine the embryo's body axes, and its migration determines the cell movements that accompany the formation of the primitive streak, and helps to orient the embryo, and create bilateral symmetry. The other layer of the inner cell mass, the epiblast, differentiates into the three primary germ layers, ectoderm, mesoderm, and endoderm. Structure The hypoblast lies beneath the epiblast and consists of small cuboidal cells. The hypoblast in fish (but not in birds and mammals) contains the precursors of both the endoderm and mesoderm. In birds and mammals, it contains precursors to the extraembryonic endoderm of the yolk sac. In chick embr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
