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Biomedical subjects

S Dietrich

Publications and source records attributed to S Dietrich.

8 recordsLinked to original sources
PubMed1992

Development of the skeletal system.

The analysis of the development of the skeletal system has been greatly facilitated by the availability of a large number of mouse mutants with skeletal defects. Whereas for many of these mutants a description of the main phenotypic abnormalities is known, molecular insight into the ontogeny of the skeletal system is limited. One of the few skeletal mutants for which the molecular basis is known is undulated. These mice have a defect in the differentiation of the sclerotome and Pax-1, a mouse paired-box containing gene, has been identified as a candidate gene for this mutation. A molecular analysis of three independent undulated alleles revealed that in each case the Pax-1 gene is affected. One of the alleles could be classified as a null allele, in which the Pax-1 gene is deleted. A phenotypic analysis shows that Pax-1 is required for proper differentiation of intervertebral discs and vertebral bodies.

Animals↗
PubMed1989

Structure, expression and chromosomal localization of Zfp-1, a murine zinc finger protein gene.

Zinc finger proteins (Zfp) are encoded by a large family of genes present in many organisms including yeast and human. Some of them are transcriptional activators and bind specifically to DNA by zinc mediated folded structures commonly known as zinc fingers. The Drosophila Krüppel (Kr) is a segmentation gene and encodes a zinc finger protein. Using a probe from the finger domain of Kr, we have isolated a structurally related gene Zfp-1 from the mouse. In this paper, we report the complete nucleotide sequence of two cDNA clones and the amino acid sequence deduced from them. The putative Zfp-1 protein contains in addition to 7 zinc fingers, two helix-turn-helix motifs. During murine embryogenesis, the Zfp-1 was found to express at a peak level in day 12 embryos. The ubiquitously expressed Zfp-1 gene is located in the 16q region on mouse chromosome 8, between the uvomorulin and the tyrosine amino transferase genes.

Amino Acid Sequence↗
PubMed1988

Moratorium call.

Explore the source record for details and available documents.

Base Sequence↗
PubMed1987

Assessment for evidence of non A-non B hepatitis in patients given n-heptane-suspended heat-treated clotting factor concentrates.

Nineteen patients, (2 adults, 17 children) with inherited bleeding disorders were infused with n-heptane-suspended-heated clotting factor concentrates. Twelve of the nineteen were previously untreated. Six patients were infused with Profilnine Heat-Treated and 13 with Profilate Heat-Treated. Five separate centers participated and were given various lots of concentrates for use. Blood from the seventeen children was sampled prior to entry, at infusion, 2 weeks, 6 weeks, 12 weeks and 6 months after the first infusion. The two adults were sampled every 2 weeks. Twelve of the 19 patients were followed beyond six months. Three patients demonstrated a rise in ALT during the first six months of observation with levels above 2.5 times the upper limit of normal. One of these patients showed a parallel increment in a-CMV IgM titer and a second patient, an adult, had previously received many units of single donor blood components. During the second 6 month observation interval, two patients showed a rise in ALT. One of these patients had been exposed to only one lot of concentrate with no other viral cause being determined. Two additional patients had a moderate increase in ALT up to 98 U/L (normal less than 50). No patients were clinically ill or showed jaundice during these episodes. The hepatitis episode at 11 months in the patient using one lot of concentrate, might suggest a non-viral mechanism in this instance. This study indicates that these concentrates may be associated with episodes of ALT above 2.5 times the upper limit of normal in approximately 20% of the patients treated, but the etiology of the raised ALT may not always be Non A-Non B hepatitis.

Adult↗
PubMed1986

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.

The existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characterized by autosomal recessive inheritance with neonatal manifestations of bone fragility or deformability. It is usually nonlethal. Studies of some 345 pedigrees of OI in the last 8 years confirm that patients falling into this group are rare. They should be distinguished as a special group within the group of OI subjects with a progressively deforming OI phenotype delineated in previous publications [Sillence et al, 1979a, b]. The OI type III phenotype does not necessarily equate with progressively deforming OI, and probably only a proportion of cases with severe deformity and normal sclerae have OI type III. On the other hand, distinction between these patients and those with a milder form of perinatally lethal OI type II might be difficult. Whereas the natural history of skeletal deformity and fractures in patients with OI type III has certain similarities, variable severity between families indicates that OI type III is likely to be genetically heterogeneous.

Adolescent↗