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Nicolaides–Baraitser Syndrome
Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo mutation, de novo missense mutations in the SMARCA2 gene and has only been reported in fewer than 200 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified. The differential includes Coffin–Siris syndrome. Symptoms The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, and prominent finger joints and broad distal phalanges. Major Features of NCBRS * Mild prenatal growth retardation * Moderate postnatal growth retardation * Mild to severe developmental delay * Severely impaired speech * Seizures *Microcephaly * Sparse hair * Progressive skin wrinkling * Thick, anteverted alae nasi * Long and broad philtrum * Large mouth * Thin upper and thick lower Vermilion border, vermilion * Prog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be inherited by offspring. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation. In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alae Nasi
A nostril (or naris , : nares ) is either of the two orifices of the nose. They enable the entry and exit of air and other gasses through the nasal cavities. In birds and mammals, they contain branched bones or cartilages called turbinates, whose function is to warm air on inhalation and remove moisture on exhalation. Fish do not breathe through noses, but they do have two small holes used for smelling, which can also be referred to as nostrils (with the exception of Cyclostomi, which have just one nostril). In humans, the nasal cycle is the normal ultradian cycle of each nostril's blood vessels becoming engorged in swelling, then shrinking. The nostrils are separated by the septum. The septum can sometimes be deviated, causing one nostril to appear larger than the other. With extreme damage to the septum and columella, the two nostrils are no longer separated and form a single larger external opening. Like other tetrapods, humans have two external nostrils (anterior nares ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Great Ormond Street Hospital For Children
Great Ormond Street Hospital (informally GOSH, formerly the Hospital for Sick Children) is a children's hospital located in the Bloomsbury area of the London Borough of Camden, and a part of Great Ormond Street Hospital for Children NHS Foundation Trust. The hospital is the largest centre for child heart surgery in Britain and one of the largest centres for heart transplantation in the world. In 1962 it developed the first heart and lung bypass machine for children. With children's book author Roald Dahl, it developed an improved shunt valve for children with hydrocephalus, and non-invasive (percutaneous) heart valve replacements. Great Ormond Street performed the first UK clinical trials of the rubella vaccine, and the first bone marrow transplant and gene therapy for severe combined immunodeficiency.Breakthroughs The hospital is the largest centre for research and postgraduate teaching in children's health in Europe. In 1929, J. M. Barrie donated the copyright to '' P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ARID1B
AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ''ARID1B'' gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex. Clinical significance Germline mutations in ARID1B are associated with Coffin–Siris syndrome. Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene. Interactions ARID1B has been shown to interact with SMARCA4 and SMARCA2 Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the ''SMARCA2'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein .... References Further reading * * * * * * * * * * * * * * * * * * * External links * * {{NLM content Transcription factors ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metatarsals
The metatarsal bones or metatarsus (: metatarsi) are a group of five long bones in the midfoot, located between the tarsal bones (which form the heel and the ankle) and the phalanges (toes). Lacking individual names, the metatarsal bones are numbered from the medial side (the side of the great toe): the first, second, third, fourth, and fifth metatarsal (often depicted with Roman numerals). The metatarsals are analogous to the metacarpal bones of the hand. The lengths of the metatarsal bones in humans are, in descending order, second, third, fourth, fifth, and first. A bovine hind leg has two metatarsals. Structure The five metatarsals are dorsal convex long bones consisting of a shaft or body, a base (proximally), and a head (distally).Platzer 2004, p. 220 The body is prismoid in form, tapers gradually from the tarsal to the phalangeal extremity, and is curved longitudinally, so as to be concave below, slightly convex above. The base or posterior extremity is wedge-sh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metacarpals
In human anatomy, the metacarpal bones or metacarpus, also known as the "palm bones", are the appendicular skeleton, appendicular bones that form the intermediate part of the hand between the phalanges (fingers) and the carpal bones (wrist, wrist bones), which joint, articulate with the forearm. The metacarpal bones are homologous to the metatarsal bones in the foot. Structure The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal is somewhat more mobile while the fifth metacarpal is semi-indepen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vermilion Border
The vermilion border (sometimes spelled vermillion border), also called margin or zone, is the normally sharp demarcation between the lip and the adjacent normal skin. It represents the change in the epidermis from highly keratinized external skin to less keratinized internal skin. It has no sebaceous glands, sweat glands, or facial hair. It has a prominence on the face, creating a focus for cosmetics (it is where lipstick is sometimes applied) and is also a location for several skin diseases. Its functional properties, however, remain unknown. Structure The lips are composed wholly of soft tissue. The skin of the face is thicker than the skin overlying the lips where blood vessels are closer to the surface. As a consequence, the margin of the lips shows a transition between the thicker and thinner skin, represented by the vermilion border. It therefore has the appearance of a sharp line between the coloured edge of the lip and adjoining skin. It has been described as a pale, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philtrum
The philtrum (, from Ancient Greek , lit. 'love charm') or medial cleft is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species. Function In most mammals, the philtrum is a narrow groove that may carry dissolved odorants from the rhinarium or nose pad to the vomeronasal organ via ducts inside the mouth. For humans and most primates, the philtrum survives only as a vestigial medial depression between the nose and upper lip. The human philtrum, bordered by a pair of ridges known as the ''philtral columns'', is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher pri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Missense mutations change amino acids, which in turn alter proteins and may alter a protein's function or structure. These mutations may arise spontaneously from mutagens like UV radiation, tobacco smoke, an error in DNA replication, and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing the sequence to a reference genome to analyze for differences. Missense mutations can be repaired by the cell when there are errors in DNA replication by using mechanisms such as DNA proofreading and mismatch repair. They can also be repaired by using genetic engineering technologies or pharmaceuticals. Some notable examples of human diseases caused by missense mutations are Rett syndrome, cystic fibrosis, and sickle-cell disease. Impact on Protei ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
