Search PubMed⌕ Search

Biomedical subjects

R Betz

Publications and source records attributed to R Betz.

At least 19 recordsLinked to original sources
PubMed2000

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

Congenital ocular motor apraxia type Cogan is characterized by impairment of horizontal voluntary eye movements, ocular attraction movements, and optokinetic nystagmus. Two patients with congenital ocular motor apraxia type Cogan exhibited a newly recognized association with nephronophthisis type 1, an autosomal recessive kidney disease. Both patients possess large deletions of the NPHP1 gene. The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.

Adaptor Proteins, Signal Transducing↗
PubMed1999

Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene.

This paper describes the genomic structure of the human Prostaglandin F receptor gene (FP) with its exon-intron borders and 5' flanking sequences. Furthermore, the location of the gene has been localized to a very small region on 1p31.1 using FISH and radiation hybrids analysis. The PGF receptor (FP) is highly expressed in mouse tissues especially in the corpora lutea in ovaries and in the kidney. Recently, it has been shown that homozygous knockout-mice lacking the gene for this receptor are unable to deliver normal fetuses at term. It might be speculated that the lack of the FP gene has the same effect in human as in mouse. Mutation analysis in families with difficulties in parturition would therefore be of high interest. The results presented here provides data necessary for further investigations of the FP gene.

Animals↗
PubMed1997

Cloning and characterization of freac-9 (FKHL17), a novel kidney-expressed human forkhead gene that maps to chromosome 1p32-p34.

We describe the cloning of a near full-length cDNA of 4258 nucleotides encoding freac-9 (HGMW-approved symbol FKHL17), a novel human forkhead gene. The 5' untranslated region is unusual since it is very long, 2127 nucleotides, and contains 15 upstream AUG codons. Hybridization to a panel consisting of RNA derived from 50 different tissues showed that freac-9 is transcribed exclusively in the kidney. The kidney-derived cell lines COS-7 and 293 are shown to express freac-9. A combination of fluorescence in situ hybridization and somatic cell hybrids localizes freac-9 to the chromosomal region of 1p32-p34. The conceptual translation product predicts a protein of 372 amino acids with an N-terminal domain rich in acidic amino acids and with a high likelihood of forming an amphipatic helix, a DNA binding forkhead domain, and a C-terminal region that has a high probability of forming an amphipatic beta-sheet. The amino acid sequence of the DNA binding forkhead motif of FREAC-9 is identical to that of another forkhead protein, FREAC-4, whereas 12 substitutions are present at the nucleotide level. There are no similarities in regions outside of the DNA binding domains of FREAC-9 and FREAC-4 and since freac-4 maps to a different chromosome (5q12-q13) it is likely that an evolutionary selection has acted to maintain identical DNA binding domains between these two kidney expressed transcription factors.

Amino Acid Sequence↗
PubMed1997

Chromosome localization, sequence analysis, and expression pattern identify FKHL 18 as a novel human forkhead gene.

The forkhead gene family of transcription factors belongs to the "winged helix" class of DNA-binding proteins. Today over 40 members of this gene family have been identified. Forkhead genes have been shown to be involved in embryonic development, tumorigenesis, and direction of tissue specificity of gene expression. Here we describe a new human forkhead gene called freac-10 (HGMW-approved symbol FKHL 18). A combination of fluorescence in situ hybridization and somatic cell hybrids localizes freac-10 to the chromosomal region of 20q11.1-q11.2. Hybridization to a panel consisting of RNA derived from 50 different tissues shows that freac-10 is transcribed predominantly in the aorta, thus having a unique expression pattern compared with other forkhead genes. Sequence comparison reveals a striking similarity, over the conserved DNA binding region, to a murine forkhead gene-fkh-3. We propose, based on sequence differences in the N- and C-terminal regions of the forkhead domain and a clear difference in expression pattern between freac-10 and fkh-3, that freac-10 represents a novel member of this gene family.

Amino Acid Sequence↗
PubMed1997

Differential loss of heterozygosity in familial, sporadic, and uremic hyperparathyroidism.

Various genetic loci harboring oncogenes, tumor suppressor genes, and genes for calcium receptors have been implicated in the development of parathyroid tumors. We have carried out loss of heterozygosity (LOH) studies in chromosomes 1p, 1q, 3q, 6q, 11q, 13q, 15q, and X in a total of 89 benign parathyroid tumors. Of these, 28 were sporadic parathyroid adenomas from patients with no family history of the disease, 41 were secondary parathyroid tumors, 5 were from patients with a history of previous irradiation to the neck, 12 were from patients with a family history of hyperparathyroidism, and 3 were parathyroid tumors related to multiple endocrine neoplasia type 1 (MEN1). In addition, we determined the chromosomal localization of a second putative calcium-sensing receptor, CaS, for inclusion in the LOH studies. Based on analysis of somatic cell hybrids and fluorescent in situ hybridization to metaphase chromsomes, the gene for CaS was mapped to chromosomal region 2q21-q22. The following results were obtained from the LOH studies: (1) out of the 24 tumors that showed LOH, only 4 had more than one chromosomal region involved, (2) in the tumors from uremic patients, LOH of chromosome 3q was detected in a subset of the tumors, (3) LOH of the MEN1 region at 11q13 was the most common abnormality found in both MEN1-related and sporadic parathyroid tumours but was not a feature of the other forms of parathyroid tumors, (4) LOH in 1p and 6q was not as frequent as previously reported, and (5) tumor suppressor genes in 1q and X might have played a role, particularly on the X chromosome, in the case of familial parathyroid adenomas. We therefore conclude that the tumorigenesis of familial, sporadic, and uremic hyperparathyroidism involves different genetic triggers in a non-progressive pattern.

Adenoma↗
PubMed1997

Heat-preconditioning confers protection from Ca(2+)-mediated cell toxicity in renal tubular epithelial cells (BSC-1).

A rise in intracellular calcium may mediate ischemic damage by phospholipid hydrolysis and proteolysis. Heat shock proteins have been shown to provide protection from various forms of cell stress, but not from models of Ca(2+)-mediated injury. The effect of heat preconditioning in a model of ionomycin-induced injury in cultured renal tubular epithelial cells (BSC-1) was examined. Hsp70-mRNA expression was induced by hyperthermia (HT) (42 degrees C, 60 min). Hsp70 protein accumulation was maximal after 12-18 h and returned to baseline levels by 96 h. Treatment of BSC-1 cells with ionomycin (7.0 microM) produced lethal cell injury characterized by LDH release. Cells examined at 18 h after HT were significantly less damaged than cells studied at 96 h after HT. Our data are the first to demonstrate that heat preconditioning confers protection from Ca(2+)-mediated cell injury. The state of increased tolerance is transient and closely parallels kinetics of Hsp70 expression.

Amino Acid Transport Systems↗
PubMed1997

Let the market work.

Explore the source record for details and available documents.

Centers for Medicare and Medicaid Services, U.S.↗
PubMed1996

Semirigid instrumentation in the management of lumbar spinal conditions combined with circumferential fusion. A multicenter study.

STUDY DESIGN: Patients with the diagnosis of degenerative disc conditions or spondylolisthesis undergoing circumferential fusion with posterior pedicle screw fixation using a semirigid rod were reviewed. OBJECTIVES: To determine the effectiveness of this approach in achieving a spinal fusion and satisfactory clinical outcome, and to determine the complications associated with the procedure. SUMMARY OF BACKGROUND DATA: The use of instrumentation to stabilize the lumbar motion segments and thereby enhance the fusion rate has been proposed in a number of studies. Semirigid fixation was believed to be effective in achieving these objectives without concern for stress-shielding, which was suggested by some authors using rigid fixation systems. METHODS: Patients who required spinal fusion with anterior and posterior approaches because of specific lumbar pathology or previous surgeries were selected. The surgery consisted of an anterior interbody fusion using allograft, followed by a posterolateral fusion and pedicle screw fixation. Fusion was determined by continuity of trabecular bridging, and outcomes were determined by pain reduction and return to previous levels of activity. Fusion was considered solid if the two posterolateral areas were fused (Zones one and two), if the anterior interbody area was fused (Zone three), or if all three zones were fused. Complications were documented during and after surgery. RESULTS: Sixty-two percent of patients had previous surgery with 25% of these patients having a diagnosis of pseudarthrosis. Fifty-five percent of patients had two or more levels fused, and 43% were heavy smokers. Ninety-seven percent of patients had successful fusions. Pain was significantly reduced on a pain analogue scale from 7.1 to 2.1 in the back and from 5.8 to 1.5 in the leg (p < 0.006 and 0.0001, respectively). Fifty-nine percent of patients returned to their previous level of activity, and 18% returned to lighter work or job retraining, for a total of 77% returning to the same or lighter levels of activity. Complications included metal failure, 4.9%; neurologic deficit, 1.2%; deep infection, 1.2%; deep venous thrombosis, 4.9%; and vascular injury, 2.4%. Fatal pulmonary embolus occurred in one patient. CONCLUSION: This technique produces a satisfactory fusion rate (97%) and a good clinical outcome based on pain reduction and return to a satisfactory level of activity (77%). It is associated with few, but significant, complications that compare well with other reported series in a difficult group of patients. This procedure should be reserved for patients who are considered to be at high risk for not achieving spinal fusion.

Adolescent↗