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12-516: SRRT may refer to: Serrate RNA effector molecule homolog Subaru Road Racing Team Social Responsibilities Round Table the Russian Special Rapid Response Team or SOBR Topics referred to by the same term [REDACTED] This disambiguation page lists articles associated with the title SRRT . If an internal link led you here, you may wish to change
24-485: A gene on human chromosome 7 is a stub . You can help Misplaced Pages by expanding it . 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
36-585: A report has documented that actual mortality associated with STD is only about 50%, with many survivors leading healthy, independent lives. In contrast to STD , the subtype spondylocostal dysostosis, or SCD features intrinsic rib anomalies, in addition to vertebral anomalies. Intrinsic rib anomalies include defects such as bifurcation, broadening and fusion that are not directly related to the vertebral anomalies (such as in STD, where extensive posterior rib fusion occurs due to segmentation defects and extreme shortening of
48-495: 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. Types include: In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between
60-589: 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
72-770: Is also known as "Jarcho-Levin syndrome", or "JLS". While clinicians almost unanimously refer to the syndrome as "Jarcho-Levin", reports have variously labelled or referred to the condition as all of the following: Hereditary malformations of the vertebral bodies, hereditary multiple hemivertebrae, syndrome of bizarre vertebral anomalies, spondylocostal dysplasia, spondylothoracic dysplasia, costovertebral anomalies, costovertebral dysplasia, spondylothoracic dysplasia, occipito-facial-cervico-thoracic-abdomino-digital dysplasia (deemed "ridiculously long" and "unwarranted" by OMIM), and spondylocostal dysostosis. A closely related condition termed "Costovertebral segmentation defect with mesomelia and peculiar facies", or Covesdem syndrome ,
84-429: Is now known as spondylothoracic dysplasia. Spondylothoracic dysplasia, or STD, has been repeatedly described as an autosomal recessively inherited condition that results in a characteristic fan-like configuration of the ribs with minimal intrinsic rib anomalies. Infants born with this condition typically died early in life due to recurrent respiratory infections and pneumonia due to their restricted thorax. Recently,
96-403: 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 and cerebral arteriopathy. This article on
108-839: The link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=SRRT&oldid=800553964 " Category : Disambiguation pages Hidden categories: Short description is different from Wikidata All article disambiguation pages All disambiguation pages Serrate RNA effector molecule homolog 83701 ENSG00000087087 ENSMUSG00000037364 Q9BXP5 Q99MR6 NM_001128852 NM_001128853 NM_001128854 NM_015908 NM_182800 NM_001109909 NM_001109910 NM_031405 NM_001359602 NP_001122324 NP_001122325 NP_001122326 NP_056992 NP_001103379 NP_001103380 NP_113582 NP_001346531 Serrate RNA effector molecule homolog (SRRT) also known as arsenite-resistance protein 2 (ARS2)
120-478: The syndrome is related to the fact that Jarcho-Levin actually encompasses two or more distinct syndromes, each with its own range of prognoses. The syndromes currently recognized as subtypes of Jarcho-Levin are termed spondylothoracic dysplasia and spondylocostal dysostosis . The disease is related to the SRRT gene. As of 2017 about 20 cases of Spondylocostal dysostosis have been reported in literature. "Type 1"
132-531: The thoracic vertebral column). In both subtypes, the pulmonary restriction may result in pulmonary hypertension , and have other potential cardiac implications. Babies born with Jarcho-Levin may be very healthy and grow up to lead normal lives. However, many individuals with Jarcho-Levin suffer from problems of respiratory insufficiency secondary to volume-restricted thoraces. These individuals will often develop pulmonary complications and die in infancy or early childhood. The disparity in outcomes of those with
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#1732801231063144-525: The two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family described in their article appeared to be inherited in an autosomal dominant fashion and had a less severe course than that reported by other investigators. They specified their condition as spondylocostal dysplasia, which has since become known as spondylocostal dysostosis. The subtype of Jarcho-Levin with which they contrasted their reported cases to
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