The ethylene-, jasmonate-, abscisic acid- and NaCl-responsive tomato transcription factor JERF1 modulates expression of GCC box-containing genes and salt tolerance in tobacco.

Ethylene responsive factors (ERFs) are important plant-specific transcription factors, some of which have been demonstrated to interact with the ethylene-responsive GCC box and the dehydration-responsive element (DRE); however, data on the roles of ERF proteins in connection with various signaling pathways are limited. In this research, we used the GCC box, an essential cis-acting element responsive to ethylene and methyl jasmonate (MeJA), as bait in a yeast one-hybrid system to isolate transcription factors from tomato (Lycopersicon esculentum Mill.).

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice.

Hepatocyte nuclear factor-1beta (HNF-1beta) is a Pit-1, Oct-1/2, UNC-86 (POU)/homeodomain-containing transcription factor that regulates tissue-specific gene expression in the liver, kidney, and other organs. Humans with autosomal dominant mutations of HNF-1beta develop maturity-onset diabetes of the young type 5 (MODY5) and congenital cystic abnormalities of the kidney. Autosomal recessive polycystic kidney disease (ARPKD) is an inherited cystic disorder that produces renal failure in infants and children and is caused by mutations of PKHD1.

Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.

Purpose: To report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD).

Design: Case report and experimental study.

Methods: Molecular genetic analysis was performed on the DNA extracted from peripheral leukocytes from a Chinese patient with GDLD and his unaffected parents.

Ganglionic action of angiotensin contributes to sympathetic activity in renin-angiotensinogen transgenic mice.

In addition to central nervous system actions, angiotensin (Ang) II may increase sympathetic nerve activity (SNA) via a direct action on sympathetic ganglia. We hypothesized that sympathetic ganglionic actions of endogenous Ang II contribute to SNA in transgenic mice that overexpress renin and angiotensinogen (R+A+ mice). Renal SNA and arterial pressure were recorded in anesthetized R+A+ and littermate control mice before and after ganglionic blockade, and after additional blockade of angiotensin type 1 (AT1) receptors with losartan.

Two populations of node monocilia initiate left-right asymmetry in the mouse.

The vertebrate body plan has conserved handed left-right (LR) asymmetry that is manifested in the heart, lungs, and gut. Leftward flow of extracellular fluid at the node (nodal flow) is critical for normal LR axis determination in the mouse. Nodal flow is generated by motile node cell monocilia and requires the axonemal dynein, left-right dynein (lrd).

Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.

Mutations to the prototypical members of the two general classes of polycystins, polycystin-1 encoded by PKD1 and polycystin-2 encoded by PKD2, underlie autosomal-dominant polycystic kidney disease. Here we report the identification of a pair of genes homologous to PKD1 from both the human and mouse genomes. PKD1L2 and PKD1L3 are located on human chromosome 16q22-q23 and mouse chromosome 8 and are alternatively spliced.

Hypertensive intracranial hematomas: endoscopic-assisted keyhole evacuation and application of patent viewing dissector.

Objective: To study the effect of endoscopic-assisted keyhole operation (EAKO) on treating hypertensive intracranial hematomas and the value of our patent dissector applied during the operation.

Methods: A total of 25 patients with hypertensive intracranial hematomas underwent endoscopic-assisted keyhole evacuation, during which, the viewing dissector, which had recently achieved national patent, was connected to the tip of endoscope and used to help dissect hematomas. The outcome of this procedure were compared with those of 22 comparable cases undergone conventional surgical treatment (large or smaller craniotomy).

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD). We previously studied two large kindreds and reported localization of a gene for ADPLD to an approximately 8-Mb region, flanked by markers D19S586/D19S583 and D19S593/D19S579, on chromosome 19p13.2-13.

WT1 downregulation during K562 cell differentiation and apoptosis induced by bufalin.

Objective: To study the change of WT1 gene expression during human leukemic K562 cell differentiation and apoptosis induced by bufalin.

Methods: Cell viability was determined by trypan blue exclusion, cell differentiation and apoptosis by nitro blue tetrazolium (NBT) reduction test, morphology and flow cytometry, expression of WT1 protein by Western blot analysis, and expression of WT1 mRNA by reverse transcriptase-polymerase chain reaction (RT-PCR).

Results: (1) The cell proliferation was inhibited by bufalin and the IC(50) at 24, 48, 72 h were 0.

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) occurs by germline mutation in PKD1 or PKD2. Evidence of homozygous inactivation of either gene in human cyst lining cells as well as in mouse knockout models strongly supports a two-hit mechanism for cyst formation. Discovery of trans-heterozygous mutations in PKD1 and PKD2 in a minority of human renal cysts has led to the proposal that such mutations also can play a role in cyst formation.