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Spondylocostal Dysostosis
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. Genetics Types include: Diagnosis Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family des ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spondylothoracic Dysplasia
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. Genetics Types include: Diagnosis Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GDF6
Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the ''GDF6'' gene. Function GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins, and control eye development. Growth differentiation factor 6 (GDF6) is a regulatory protein associated with growth and differentiation of developing embryos. GDF6 is encoded by the GDF6 gene. It is a member the transforming growth factor beta superfamily which is a group of proteins involved in early regulation of cell growth and development. GDF6 has been shown to play an important role in the patterning of the epidermis and bone and joint formation. GDF6 induces genes related to the development of the epidermis and can bind directly to noggin, a gene that controls neural development, to block its effect. GDF6 interacts with bone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural ind ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinicians
A clinician is a health care professional typically employed at a skilled nursing facility or clinic. Clinicians work directly with patients rather than in a laboratory or as a researcher. A clinician may diagnose, treat, and otherwise care for patients. For example, psychologists, clinical pharmacists, clinical scientists, nurses, physiotherapists, dentists, optometrists, physician assistants and physicians A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through th ... can be considered clinicians. Many clinicians take comprehensive exams to be licensed and some complete graduate degrees (master's or doctorates) in their field of expertise. A main function of a clinician is to manage a sick person in order to cure the effects of their illness. The clinician can also consider the impact of ill ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Serrate RNA Effector Molecule Homolog
Serrate RNA effector molecule homolog (SRRT) also known as arsenite-resistance protein 2 (ARS2) is a protein that in humans is encoded by the SRRT gene. The SRRT gene product plays a role in RNA-mediated gene silencing (RNAi) by miRNAs. Independently of its activity on miRNAs, it is necessary and sufficient to promote neural stem cell self-renewal, by directly binding to the SOX2 promoter and positively regulating its transcription. It enables the binding activity of the mRNA cap binding complex and the adaptor activity of certain protein molecules. It can be found in the nucleoplasm and is part of the ribonucleoprotein complex. It is involved in cell cycle progression around the S phase. It does not directly confer arsenite resistance but rather modulates arsenic sensitivity. Diseases associated with SRRT include spondylocostal dysostosis Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characteri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spondylocostal Dysostosis
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. Genetics Types include: Diagnosis Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family des ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spondylothoracic Dysplasia
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. Genetics Types include: Diagnosis Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Inheritance
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Inheritance
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] |
Baltimore
Baltimore ( , locally: or ) is the List of municipalities in Maryland, most populous city in the U.S. state of Maryland, fourth most populous city in the Mid-Atlantic (United States), Mid-Atlantic, and List of United States cities by population, the 30th most populous city in the United States with a population of 585,708 in 2020. Baltimore was designated an Independent city (United States), independent city by the Constitution of Maryland in 1851, and today is the most populous independent city in the United States. As of 2021, the population of the Baltimore metropolitan area was estimated to be 2,838,327, making it the List of metropolitan areas of the United States, 20th largest metropolitan area in the country. Baltimore is located about north northeast of Washington, D.C., making it a principal city in the Washington–Baltimore combined statistical area, Washington–Baltimore combined statistical area (CSA), the third-largest combined statistical area, CSA in the nat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
David Rimoin
David Lawrence Rimoin (November 9, 1936 – May 27, 2012) was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.Thomas H. Maugh, II"Dr. David L. Rimoin dies at 75; Cedars-Sinai geneticist" ''Los Angeles Times'', May 30, 2012."Dr. David Rimoin, pioneering geneticist, dies at 75" '''', May 29, 2012. Biography Rimoin was born in |
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