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Molecular Mechanism of Pancreatic and Salivary Gland Fluid and HCO3− Secretion
Fluid and HCO3− secretion is a vital function of all epithelia and is required for the survival of
the tissue. Aberrant fluid and HCO3− secretion is associated with many epithelial diseases …
the tissue. Aberrant fluid and HCO3− secretion is associated with many epithelial diseases …
Definition and clinical importance of haplotypes
Advances in genoty** and sequencing technologies, coupled with the development of
sophisticated statistical methods, have afforded investigators novel opportunities to define …
sophisticated statistical methods, have afforded investigators novel opportunities to define …
Unconventional protein secretion–new insights into the pathogenesis and therapeutic targets of human diseases
Most secretory proteins travel through a well-documented conventional secretion pathway
involving the endoplasmic reticulum (ER) and the Golgi complex. However, recently, it has …
involving the endoplasmic reticulum (ER) and the Golgi complex. However, recently, it has …
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates
DL Bodian, E Klein, RK Iyer, WSW Wong… - Genetics in …, 2016 - nature.com
Purpose: To assess the potential of whole-genome sequencing (WGS) to replicate and
augment results from conventional blood-based newborn screening (NBS). Methods …
augment results from conventional blood-based newborn screening (NBS). Methods …
Dynamic regulation of CFTR bicarbonate permeability by [Cl−] i and its role in pancreatic bicarbonate secretion
BACKGROUND & AIMS: Pancreatic bicarbonate (HCO3−) secretion is important for a
healthy pancreas as well as digestive physiology. However, how human pancreatic duct …
healthy pancreas as well as digestive physiology. However, how human pancreatic duct …
SNP discovery in associating genetic variation with human disease phenotypes
Y Suh, J Vijg - … Research/Fundamental and Molecular Mechanisms of …, 2005 - Elsevier
With the completion of the human genome project, attention is now rapidly shifting towards
the study of individual genetic variation. The most abundant source of genetic variation in …
the study of individual genetic variation. The most abundant source of genetic variation in …
Genetic aspects of pancreatitis
DC Whitcomb - Annual review of medicine, 2010 - annualreviews.org
Acute pancreatitis and chronic pancreatitis are complex inflammatory disorders of the
pancreas with unpredictable severity, complications, and clinical courses. Growing evidence …
pancreas with unpredictable severity, complications, and clinical courses. Growing evidence …
Generalized genomic distance–based regression methodology for multilocus association analysis
J Wessel, NJ Schork - The American Journal of Human Genetics, 2006 - cell.com
Large-scale, multilocus genetic association studies require powerful and appropriate
statistical-analysis tools that are designed to relate genotype and haplotype information to …
statistical-analysis tools that are designed to relate genotype and haplotype information to …
Unconventional secretion of transmembrane proteins
Over the past 20 years it has become evident that eukaryotic cells utilize both conventional
and unconventional pathways to deliver proteins to their target sites. Most proteins with a …
and unconventional pathways to deliver proteins to their target sites. Most proteins with a …
Monomerization and ER relocalization of GRASP is a requisite for unconventional secretion of CFTR
Induction of endoplasmic reticulum (ER)‐to‐Golgi blockade or ER stress induces Golgi
reassembly stacking protein (GRASP)‐mediated, Golgi‐independent unconventional cell …
reassembly stacking protein (GRASP)‐mediated, Golgi‐independent unconventional cell …