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Cousin Syndrome
Cousin syndrome is a genetic condition characterized by short stature at birth, a short neck with low-positioned external ears, as well as congenital malformations of the skeletal system affecting the shoulders, the pelvis, the neck, and the limbs (MIM number 260660). The condition determines physical disability, particularly affecting deambulation, and hearing loss while intelligence is not affected. The condition was originally described in 1982 by Jacques Cousin, physician in Lilles, France, and colleagues as "familial pelvi-scapular dysplasia with dwarfism and dysmorphisms". Some sporadic patients reported in the medical literature as "pelvic-shoulder dysplasia" or similar diagnoses may in fact have had Cousin syndrome. In 2008, the group of Andrea Superti-Furga showed that the condition was caused by biallelic inactivating variants in the gene coding for the T-box transcription factor, TBX15. They also proposed to name the condition "Cousin syndrome" because the name "pelviscap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Disability
A physical disability is a limitation on a person's physical functioning, mobility, dexterity or stamina. Other physical disabilities include impairments which limit other facets of daily living, such as respiratory disorders, blindness, epilepsy and sleep disorders. Causes Prenatal disabilities are acquired before birth. These may be due to diseases or substances that the mother has been exposed to during pregnancy, embryonic or fetal developmental accidents or genetic disorders. Perinatal disabilities are acquired between some weeks before to up to four weeks after birth in humans. These can be due to prolonged lack of oxygen or obstruction of the respiratory tract, damage to the brain during birth (due to the accidental misuse of forceps, for example) or the baby being born prematurely. These may also be caused due to genetic disorders or accidents. Post-natal disabilities are gained after birth. They can be due to accidents, injuries, obesity, infection or other illness ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Loss
Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language acquisition, acquire spoken language, and in adults it can create difficulties with social interaction and at work. Hearing loss can be temporary or permanent. Presbycusis, Hearing loss related to age usually affects both ears and is due to cochlear hair cell loss. In some people, particularly older people, hearing loss can result in loneliness. Deafness, Deaf people usually have little to no hearing. Hearing loss may be caused by a number of factors, including: genetics, ageing, Noise-induced hearing loss, exposure to noise, some infections, birth complications, trauma to the ear, and certain medications or toxins. A common condition that results in hearing loss is chronic ear infections. Certain infections during pregnancy, such as cyt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jacques Cousin
Ancient and noble French family names, Jacques, Jacq, or James are believed to originate from the Middle Ages in the historic northwest Brittany region in France, and have since spread around the world over the centuries. To date, there are over one hundred identified noble families related to the surname by the Nobility & Gentry of Great Britain & Ireland. Origins The origin of this surname ultimately originates from the Latin, Jacobus which belongs to an unknown progenitor. Jacobus comes from the Hebrew name, Yaakov, which translates as "one who follows" or "to follow after". Ancient history A French knight returning from the Crusades in the Holy Lands probably adopted the surname from "Saint Jacques" (or "James the Greater"). James the Greater was one of Jesus' Twelve Apostles, and is believed to be the first martyred apostle. Being endowed with this surname was an honor at the time and it is likely that the Church allowed it because of acts during the Crusades. Indeed, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
France
France (), officially the French Republic ( ), is a country primarily located in Western Europe. It also comprises of Overseas France, overseas regions and territories in the Americas and the Atlantic Ocean, Atlantic, Pacific Ocean, Pacific and Indian Oceans. Its Metropolitan France, metropolitan area extends from the Rhine to the Atlantic Ocean and from the Mediterranean Sea to the English Channel and the North Sea; overseas territories include French Guiana in South America, Saint Pierre and Miquelon in the North Atlantic, the French West Indies, and many islands in Oceania and the Indian Ocean. Due to its several coastal territories, France has the largest exclusive economic zone in the world. France borders Belgium, Luxembourg, Germany, Switzerland, Monaco, Italy, Andorra, and Spain in continental Europe, as well as the Kingdom of the Netherlands, Netherlands, Suriname, and Brazil in the Americas via its overseas territories in French Guiana and Saint Martin (island), ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Andrea Superti-Furga
Andrea Superti-Furga (born 1959 in Milan) is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic Medicine at the Lausanne University Hospital (CHUV) and a professor at the Faculty of Medicine and Biology of the University of Lausanne. Career Superti-Furga was educated at the German School of Milan in Milan, where he obtained his ''Abitur'' in 1978. He studied medicine at the Universities of Milan, Genoa, and Zurich, and obtained his MD degrees from Genoa in 1984 and from Zurich in 1992. During his studies he has been mentored by Paolo Durand, Victor McKusick, Andrea Prader, Andres Giedion, Richard Gitzelmann, Beat Steinmann, and Sergio Fanconi. He worked with Francesco Ramirez on genetic diseases in both Zurich and New York. In 2002, he was appointed professor for Molecular Pediatrics at the University of Lausanne, before moving as a professor and chairman of the Department of Pediatrics to the University of Freiburg, Ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
T-box
T-box refers to a group of transcription factors involved in embryonic limb and heart development. Every T-box protein has a relatively large DNA-binding domain, generally comprising about a third of the entire protein that is both necessary and sufficient for sequence-specific DNA binding. All members of the T-box gene family bind to the "T-box", a DNA consensus sequence of TCACACCT. Members T-boxes are especially important to the development of embryos, found in zebrafish oocyte by Bruce et al 2003 and ''Xenopus laevis'' oocyte by Xanthos et al 2001. They are also expressed in later stages, including adult mouse and rabbit studied by Szabo et al 2000. Mutations in the first one found caused short tails in mice, and thus the protein encoded was named brachyury, Greek for "short-tail". In mice this gene is named ''Tbxt'', and in humans it is named ''TBXT''. Brachyury has been found in all bilaterian animals that have been screened, and is also present in the cnidaria. The mou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TBX15
T-box transcription factor TBX15 is protein that is encoded in humans by the Tbx15 gene, mapped to Chromosome 3 in mice and Chromosome 1 in humans. Tbx15 is a transcription factor that plays a key role in embryonic development. Like other members of the T-box subfamily, Tbx15 is expressed in the notochord and primitive streak, where it assists with the formation and differentiation of the mesoderm. It is steadily downregulated after segmentation of the paraxial mesoderm. Expression of the T-box overall is a requirement for an embryo to remain viable. Heterozygous T-null mutations in mice result in short tails and some defects in sacral vertebrae. Homozygous null embryos display extreme deformities with mesodermal development: the axis of the body is shortened, the notochord fails to form, and posterior somites never develop. Embryonic death occurs around 10 days due to the failure to form the allantois. Tbx15 plays a relatively minor role within this family. Tbx15 plays a role ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Campomelic Dysplasia
Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It can be lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and a significant proportion of patients survive into adulthood. The name is derived from the Greek roots ''campo'' (or ''campto''), meaning bent, and ''melia'', meaning limb. An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic males display a range of disorders of sexual development (DSD) and genital ambiguities or may even develop as normal phenotypic females as in complete 46 XY sex reversal. An atypical form of the disease with absence of bowed limbs is called, prosaically, acampomelic campomelic dysplasia (ACD) and is found in about 10% of patients, particularly those surviving the neonatal period. Signs and symptoms While the definitive presentation of the disease is a patient havin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the ''SOX9'' gene. Function SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It is expressed by proliferating but not hypertrophic chondrocytes that is essential for differentiation of precursor cells into chondrocytes and, with steroidogenic factor 1, regulates transcription of the anti-Müllerian hormone (AMH) gene. SOX-9 also plays a pivotal role in male sexual development; by working with Sf1, SOX-9 can produce AMH in Sertoli cells to inhibit the creation of a female reproductive system. It also interacts with a few other genes to promote the development of male sexual organs. The process starts when the transcription factor Testis determining factor (encoded by the sex-determining region SRY of the Y chromosome) activates SOX-9 activity by binding to an enhancer sequence upstream of the gene. Next, Sox9 activates FGF9 and forms feedforward loop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
