Genomes and Genes
Experts and Doctors on exocrine pancreatic insufficiency in Toronto, Ontario, Canada
Locale: Toronto, Ontario, Canada
Topic: exocrine pancreatic insufficiency
- Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002;10:250-8 pubmed..These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS...
- Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2005;45:892-901 pubmed..We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome...
- Gonska T, Ip W, Turner D, Han W, Rose J, Durie P, et al. Sweat gland bioelectrics differ in cystic fibrosis: a new concept for potential diagnosis and assessment of CFTR function in cystic fibrosis. Thorax. 2009;64:932-8 pubmed publisher..A novel concept is proposed that may provide a more efficient real-time method for assessing CFTR function in vivo...
- Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan X, et al. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?. Clin Genet. 2010;77:464-73 pubmed publisher..Current computational methods are not recommended for establishing or excluding a CF diagnosis, notably as a newborn screening strategy or in patients with equivocal test results. ..
- Tourlakis M, Zhong J, Gandhi R, Zhang S, Chen L, Durie P, et al. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012;143:481-92 pubmed publisher..Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes. SBDS therefore appears to be required for normal pancreatic development and function. ..
- Balwan A, Nicolau D, Wungwattana M, Zuckerman J, Waters V. Clinafloxacin for Treatment of Burkholderia cenocepacia Infection in a Cystic Fibrosis Patient. Antimicrob Agents Chemother. 2016;60:1-5 pubmed publisher..200505-840OE). We report the use of clinafloxacin in a CF patient with advanced B. cenocepacia infection, present pharmacokinetic (PK) data, and discuss the potential therapeutic role of clinafloxacin in patients with this condition. ..
- Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock G, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001;68:1048-54 pubmed..However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region. ..
- Leung R, Cuddy K, Wang Y, Rommens J, Glogauer M. Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. Blood. 2011;117:2044-53 pubmed publisher..Impaired osteoclast formation could disrupt bone homeostasis, resulting in skeletal abnormalities seen in SDS patients. ..
- Sen S, Wang H, Nghiem C, Zhou K, Yau J, Tailor C, et al. The ribosome-related protein, SBDS, is critical for normal erythropoiesis. Blood. 2011;118:6407-17 pubmed publisher..Erythropoietic failure caused by SBDS deficiency is at least in part related to elevated ROS levels and translation insufficiency because antioxidants and leucine improved cell expansion. ..