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Biomedical subjects

M Koenig

Publications and source records attributed to M Koenig.

At least 127 records · Page 7Linked to original sources
PubMed1988

Growth of head and neck squamous cell carcinoma in nude mice: potentiation of laryngeal carcinoma by 17 beta-estradiol.

We successfully transplanted and serially perpetuated human head and neck tumors in nude mice by using tumor tissue derived from 10 of 14 (71%) independently obtained surgical specimens. Tumor growth was achieved with specimens derived from cancers of the floor of the mouth, hypopharynx, and larynx. Tumors in nude mice retained their histological stage of differentiation and human species origin. Prompted by reports of increased estrogen receptors in laryngeal carcinomas, we tested the effect of estradiol treatment on the growth of laryngeal tumor implants. Time to tumor formation was decreased and tumor size was increased in estradiol-treated animals relative to placebo-treated animals. The results demonstrate that estradiol treatment potentiates growth of laryngeal tumors in nude mice. This tumor model can also be used to evaluate antihormonal therapy in the treatment of some laryngeal carcinomas.

Animals↗
PubMed1988

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

The complete sequence of the human Duchenne muscular dystrophy (DMD) cDNA has been determined. The 3685 encoded amino acids of the protein product, dystrophin, can be separated into four domains. The 240 amino acid N-terminal domain has been shown to be conserved with the actin-binding domain of alpha-actinin. A large second domain is predicted to be rod-shaped and formed by the succession of 25 triple-helical segments similar to the repeat domains of spectrin. The repeat segment is followed by a cysteine-rich segment that is similar in part to the entire COOH domain of the Dictyostelium alpha-actinin, while the 420 amino acid C-terminal domain of dystrophin does not show any similarity to previously reported proteins. The functional significance of some of the domains is addressed relative to the phenotypic characteristics of some Becker muscular dystrophy patients. Dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is a large structural protein that is likely to adopt a rod shape about 150 nm in length.

Amino Acid Sequence↗
PubMed1988

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.

DNA sequence polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne muscular dystrophy (DMD) in affected families, but serious limitations and pitfalls are associated with this approach [Darras et al., 1987]. The complementary DNA (cDNA) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients [Koenig et al., 1987]. Two prenatal studies are presented to illustrate how the unambiguous identification of deletion mutations by cDNA probes permits direct DNA-based diagnoses with high accuracy and in otherwise uninformative families. In a single proband family, DNA marker analysis had determined that the Xp21 chromosomal region present in the affected male was also carried by a male fetus in a subsequent pregnancy. Analysis of this family's DNA with probes covering the entire 14 kb cDNA revealed a small deletion in the affected male that was not present in the fetus nor in the mother. In the second family the fetus was a female deletion carrier identified by comparing intensities of restriction fragments. Since 1/3 of all DMD patients are thought to result from new mutations and most families have only single affected males, the cloned cDNA probes now available are likely to revolutionize DNA-based diagnostic studies in this disorder. More reliable, more rapid and less expensive than linkage studies with DNA polymorphisms, this method will be informative in the more than 50% of DMD/BMD cases that have deletion mutations.

Chromosome Deletion↗
PubMed1988

Adaptive changes in postprandial motility after intestinal resection and bypass. Electromyographic study in rats.

An electromyographic technique was used to study the changes in postprandial motility induced by jejunal and ileal resection and jejunal bypass (50% reduction of total length of small bowel). Electrodes were implanted in rats throughout the intestine. Compared to control animals, the duration of postprandial interruption of the myoelectric complex (DIMC) was rapidly increased after jejunal resection, more gradually augmented after jejunal bypass, and remained constant after ileal resection. The frequency of occurrence of spike bursts during the postprandial period was significantly decreased in the short remaining proximal segment after jejunal resection and was not changed in the ileum. The jejunal bypass induced no change in the frequency throughout the remaining bowel. Ileal resection was followed by a decrease on the jejunum. The percentage of slow waves superimposed by a spike burst remained constant after jejunal resection and bypass but was significantly decreased after ileal resection on the whole remaining intestine. These results show important modifications in postprandial motor activity of the small bowel, which appear rapidly after jejunal resection, more gradually after jejunal bypass, and which are less pronounced after ileal resection. This electromyographic study emphasizes the role of intestinal motility in the development of adaptation after small bowel resection or bypass.

Adaptation, Physiological↗
PubMed1987

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

The 14 kb human Duchenne muscular dystrophy (DMD) cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned. The DMD transcript is formed by at least 60 exons which have been mapped relative to various reference points within Xp21. The first half of the DMD transcript is formed by a minimum of 33 exons spanning nearly 1000 kb, and the remaining portion has at least 27 exons that may spread over a similar distance. The DNA isolated from 104 DMD boys was tested with the cDNA for detection of deletions and 53 patients exhibit deletion mutations. The majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript.

Amino Acid Sequence↗
PubMed1987

Molecular studies of progressive muscular dystrophy (Duchenne).

The Duchenne muscular dystrophy gene cloning is presented along with evidence which indicates that the gene locus encoding the Duchenne muscular dystrophy (DMD) transcript is extremely large. Partial nucleotide sequence of the cDNA from mouse and humans has been used to predict the amino acid sequence for a part of the DMD protein. The protein is highly conserved between the two mammals and might have structural characteristics similar to other muscle-specific proteins.

Amino Acid Sequence↗
PubMed1985

Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution.

We have isolated and characterized DNA probes that detect homologies between the X and Y chromosomes. Clone St25 is derived from the q13-q22 region of the X chromosome and recognizes a 98% homologous sequence on the Y chromosome. Y specific fragments were present in DNAs from 5 Yq-individuals and from 4 out of 7 XX males analysed. An X linked TaqI RFLP is detected with the St25 probe (33% heterozygosity) which should allow one to establish a linkage map including other polymorphic X-Y homologous sequences in this region and to compare it to a Y chromosome deletion map. Probe DXS31 located in Xp223-pter detects a 80% homologous sequence in the Y chromosome. The latter can be assigned to Yq11-qter outside the region which contains the Y specific satellite sequences. ACT1 and ACT2, the actin sequences present on the X and Y chromosomes respectively, have been cloned. No homology was detected between the X and Y derived fragments outside from the actin sequence. ACT2 and the Y specific sequence corresponding to DXS31 segregate together in a panel of Y chromosomes aberrations, and might be useful markers for the region important for spermatogenesis in Yq. Various primate species were analysed for the presence of sequences homologous to the three probes. Sequences detected by St25 and DXS31 are found only on the X chromosome in cercopithecoidae. The sequences which flank ACT2 detect in the same species autosomal fragments but no male specific fragments. It is suggested that the Y chromosome acquired genetic material from the X chromosome and from autosomes at various times during primate evolution.

Actins↗
PubMed1985

Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome.

It has been proposed that sequence homology should exist between the short arms of the human sex chromosomes, in the regions pairing at meiosis. Out of 40 clones picked at random from a collection of non-repetitive DNA sequences derived from the human Y chromosome, we have found nine sequences which show very high homology with sequences located on the X chromosome. All nine probes originate from the euchromatic part of the Y chromosome. All the homologous sequences are located within the Xq12-Xq22-24 region. None of them map to the short arm of the X chromosome. We conclude that an important part of the euchromatic region of the Y chromosome is homologous to the middle of the X chromosome long arm, possibly as a result of recent translation event(s).

Animals↗
PubMed1985

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

Panels of somatic cell hybrid lines carrying various structural rearrangements of the human X chromosome short arm were analyzed with 21 X-chromosome-specific cloned DNA fragments. We mapped these molecular markers to five different regions of the short arm of the X chromosome. The results were confirmed by gene-dosage studies of human lymphoblasts with structurally abnormal X chromosomes. The ornithine transcarbamylase gene and four anonymous DNA sequences map within band Xp21, flanking the presumed locus for Duchenne muscular dystrophy.

Animals↗
PubMed1984

A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm.

An X linked human DNA fragment (named DXS31 ) which detects partially homologous sequences on the Y chromosome has been isolated. Regional localisation of the two sex linked sequences was determined using a panel of rodent-human somatic cell hybrids. The X specific sequence is located at the tip of the short arm ( Xp22 .3-pter), i.e. within or close to the region which pairs with the Y chromosome short arm at meiosis. However the Y specific sequence is located in the heterochromatic region of the long arm ( Yq11 -qter) and lies outside from the pairing region. DNAs from several XX male subjects were probed with DXS31 and in all cases a double dose of the X linked fragment was found, and the Y specific fragment was absent. DXS31 detects in chimpanzee a male-female differential pattern identical to that found in man. However results obtained in a more distantly related species, the brown lemur, suggest that the sequences detected by DXS31 in this species might be autosomally coded. The features observed with these X-Y related sequences do not fit with that expected from current hypotheses of homology between the pairing regions of the two sex chromosomes, nor with the pattern observed with other X-Y homologous sequences recently characterized. Our results suggest also that the rule of conservation of X linkage in mammals might not apply to sequences present on the tip of the X chromosome short arm, in bearing with the controversial issue of steroid sulfatase localisation in mouse.

Animals↗
PubMed1984

Contralateral trigeminal nerve dysfunction as a false localizing sign in acoustic neuroma: a clinical and electrophysiological study.

A 49-year-old woman presented with right facial sensory impairment due to trigeminal nerve dysfunction caused by a contralateral acoustic neuroma. The mechanism of the falsely localizing trigeminal involvement is probably displacement and distortion of the brain stem by the large mass lesion and not increased intracranial pressure. A preoperative orbicularis oculi reflex study was abnormal and indicative of right trigeminal nerve dysfunction; after surgical removal of the tumor, the orbicularis oculi reflex study was normal. We conclude that a false localizing sign of trigeminal nerve dysfunction can occur rarely on the contralateral side in patients with large posterior fossa tumors, especially tumors arising from the cerebellopontine angle, and should be considered in the differential diagnosis of hemifacial sensory disturbance.

Brain Diseases↗
PubMed1978

[Stenosis of the thoraco-abdominal aorta by endovascular calcification, with hypertension. Surgical treatment (author's transl)].

A case of a 24 year-old man in whom, following acute pulmonary oedema complicating hypertension known for a period of three years, stenosis of the thoraco-abdominal aorta produced by a large calcification within a zone of the aorta with an inflammatory appearance was demonstrated. This case is included within the context of the aortic syndrome. Operation led to normalisation of blood pressure immediately afterwords, but there was moderate hypertension 56 months later.

Adult↗
PubMed1976

Arteriovenous fistulas for hemodialysis in 100 consecutive patients.

Arteriovenous fistulas were performed in 100 patients over a three year period with a 90 per cent overall success rate. Various technics for construction of the fistula using autologous veins are discussed, with emphasis on pre- and intraoperative assessment of vessel condition and its relation to the prevention of immediate and delayed failures.

Adolescent↗
PubMed1974

Marek's disease herpesvirus-induced DNA polymerase.

Infection of duck embryo fibroblasts by Marek's disease herpesvirus (MDHV), strain GA, led to the induction of a novel DNA polymerase. This novel DNA polymerase, designated MDHV-induced DNA polymerase, could be distinguished from the DNA polymerase activities of uninfected duck embryo fibroblasts by its chromatographic behavior on phosphocellulose, by its sedimentation coefficient, and by its catalytic properties. The characteristics of MDHV-induced DNA polymerase which had been purified by phosphocellulose chromatography were investigated. The sedimentation coefficient of the enzyme, as determined by sucrose density gradient centrifugation in the presence of 0.25 M KCl, was 5.9S. From this sedimentation coefficient, the molecular weight of MDHV-induced DNA polymerase was estimated to be 100,000. MDHV-induced DNA polymerase could not effectively use either poly(dA).oligo(dT)(12-18) or poly(dC).oligo(dG)(12-18) as a template-primer. The DNA polymerases from uninfected duck embryo fibroblasts could use these synthetic template-primers. MDHV-induced DNA polymerase also could not use poly(rA).oligo(dT)(12-18) or poly(rC).oligo(dG)(12-18) as template-primers or oligo(dT)(12-18) as a primer, indicating that it was not a polymerase of the type R-DNA polymerase, reverse transcriptase, or a terminal nucleotidyl transferase. In vitro synthesis of DNA by MDHV-induced DNA polymerase was markedly inhibited by the addition of (NH(4))(2)SO(4) to the reaction mixture.

Ammonium Sulfate↗