EEF2 was evaluated as a candidate gene by mutation screening in clinically defined SDS which lack mutations in the SBDS gene. To date, no deleterious mutations were found in EEF2 in four Italian patients without SBDS mutations, but with a clinical diagnosis of SDS....
方法 回顾性分析我院７名ＳＢＤＳ基因相关血细胞减少患儿的临床资料及基因信息，描述这些患儿的临床特点及诊治经过。结果 ７名患儿均携带ＳＢＤＳ基因突变，其中４名患儿携带ＳＢＤＳ基因复合杂合突变，表现为骨髓造血衰竭，并伴其他系统异常，诊断为Ｓｈｗａｃｈｍａｎ ｄｉａｍｏｎｄｓｙｎｄｒｏｍｅ（ＳＤＳ）；另外...
( 2008 ) Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome . Clinical and Experimental Immunology , 151 , 448 – 454 .Khan S, Hinks J, Shorto J, Schwarz MJ, Sewell WA. Some cases of common variable immunodeficiency may...
However, this should be interpreted cautiously because the gene was found in draft genomic sequence and has no EST support at present. As discussed previously, the only sequenced Rhodophyte genome (Cyani. merolae) has two SBDS homologues. Both lacked the C-terminal fusion, but this species may...
Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and... C Orelio,RMVD Sluis,P Verkuijlen,...
Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Genedoi:10.5402/2013/951202Elena NicolisMarco CipolliHindawi
These mutations are located in exon 2, and result from gene conversion with SBDSP1, the SBDS pseud-ogene (Boocock et al, 2003). Although its exact function remains unclear, the SBDS protein appears to have a role in ribosome maturation, and might have additional extrariboso-mal functions ...
Although the SBDS gene mutated in this disorder is highly conserved in Archaea and all eukaryotes, the function is unknown. To interpret the molecular consequences of SDS-associated mutations, we have solved the crystal structure of the Archaeoglobus fulgidus SBDS protein orthologue at a resolution ...
Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome.doi:10.1371/journal.pone.0020727Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short ...
Although the gene mutated in this disorder is highly conserved in Archaea and all eukaryotes, the function is unknown. To interpret the molecular consequences of SDS-associated mutations, we have solved the crystal structure of the SBDS protein orthologue at a resolution of 1.9 , revealing a ...