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Biomedical subjects

I Henry

Publications and source records attributed to I Henry.

68 records · Page 4Linked to original sources
PubMed1988

Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1.

Type XI collagen is a minor and poorly characterized structural component of cartilage. Recently, cDNA and genomic clones coding for the pro alpha 1 chain of human Type XI collagen, formerly 1 alpha collagen, have been isolated and fully characterized. Here we have used one such probe to establish the chromosomal localization of the pro alpha 1 (XI) collagen gene (COL11A1) by hybridization to filter-bound DNA isolated from flow-sorted chromosomes and by in situ hybridization on metaphase chromosomes. This combination of approaches has enabled us to locate COL1A11 in the p21 region of chromosome 1. This represents the first mapping of a Type XI collagen gene and the first assignment of a collagen locus to chromosome 1. These studies also provide additional evidence for the nearly uniform dispersion of the human fibrillar collagen genes in the human genome.

Chromosome Banding↗
PubMed1988

Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.

A few cases of Beckwith-Wiedemann syndrome (BWS) have in common a duplication of 11p15. Among the genes located in 11p15, c-Ha-ras 1 (HRAS1), insulin (INS), and insulin-like growth factor II (IGF2) may account for the clinical features and the increased risk for malignancy. Using eight 11p15 markers including HRAS1, INS and IGF2 we have studied eight sporadic and hereditary cases of BWS whether or not associated with a nephroblastoma. By gene dosage determination and family studies, we have shown the following: the eight patients examined had an apparent diploid representation of all of the eight markers studied, thus indicating that a microduplication of these markers or of the region characterized by these markers is not a common event in BWS; in a family with three affected sibs the genes for HRAS1 and INS/IGF2 did not cosegregate with BWS and therefore may not participate in the pathogenic processes here observed.

Beckwith-Wiedemann Syndrome↗
PubMed1987

The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22.

We have used a cDNA clone for human lecithin:cholesterol acyl transferase (LCAT) and Southern blotting techniques to identify the human LCAT gene in DNA from a series of rodent X human somatic cell hybrids. Our results are compatible with the location of the gene on human chromosome 16, and this has been confirmed using in situ hybridization of the LCAT cDNA to human metaphase chromosomes. These results confirm the earlier studies on LCAT-deficient patients, indicating that the structural gene for LCAT is on human chromosome 16q22.

Animals↗
PubMed1986

The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1).

A recombinant probe specific for the pro alpha 2 chain of human Type V collagen has been used for the localization of the corresponding gene (COL5A2) to chromosome 2. Regional mapping by in situ hybridization and analysis of DNA from human X rodent cell lines indicated that COL5A2 is confined within the segment 2q14----2q32, thus syntenic to the pro alpha 1 (III) collagen gene (COL3A1).

Animals↗
PubMed1986

Recurrent deletion of the short arm of chromosome 3 in human renal cell carcinoma: shift of the c-raf 1 locus.

A cytogenetic study performed on 6 human renal cell carcinomas after short-term culture on extracellular matrix with serum-free medium showed aneuploidy without structural changes in 2 tumors and a rearrangement of the short arm of chromosome 3 in 4 tumors, including deletions and a translocation involving the 3p14 and 3p21 bands. Chromosomal in situ hybridization with a c-raf 1 probe demonstrated that in 2 renal cancers with del3(p14 or 21) the cellular oncogene had shifted from 3p25 to 3p14 as a result of an interstitial deletion.

Carcinoma, Renal Cell↗
PubMed1985

The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase).

We have used a cDNA clone for Chinese hamster 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase to isolate a genomic recombinant for human HMG-CoA reductase. The identity of the gene was confirmed by partial sequence analysis. Several unique fragments that will be useful for restriction fragment length polymorphism (RFLP) studies were identified. In situ hybridisation of a 2.6 kb unique fragment of the gene to human metaphase chromosomes localised the human HMGCoA reductase gene to human chromosome 5q12.

Animals↗
PubMed1985

Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19.

We have synthesised a mixed oligonucleotide 17 bases long and used it to isolate cDNA clones for apolipoprotein CI (apo CI) from an adult liver cDNA library. The partial sequence of one of these clones confirms its identity. We have used this probe and Southern blotting techniques to identify the human apo CI gene in DNA from a series of rodent X human somatic cell hybrids. Our results provide evidence for the assignment of this gene to human chromosome 19.

Animals↗
PubMed1985

The structural gene for aldolase B (ALDB) maps to 9q13----32.

We used a cloned cDNA probe for the B subunit of human aldolase (ALDB) and Southern blotting techniques to analyse DNA from a series of rodent X human somatic cell hybrids for the presence of specific ALDB-related sequences. Our results provide evidence for the assignment of the gene for ALDB to chromosome 9. Moreover, by direct gene dosage determination in two patients with chromosome 9 unbalanced rearrangements and by in situ hybridization we refined the regional chromosomal assignment to 9q13----q32 and most probably to 9q21.3----9q22.2.

Animals↗
PubMed1984

The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.

We used cloned cDNA probes for the A alpha-, B beta-, and gamma-chains of human fibrinogen and Southern blotting techniques to analyze DNA from a series of rodent X human somatic cell hybrids for the presence of specific fibrinogen-related sequences. Our results provide evidence for the assignment of the three genes for fibrinogen to chromosome 4. Moreover, by direct gene-dosage determination in two patients with chromosome 4 unbalanced rearrangements, we refined the regional chromosomal assignment to 4q2, thus suggesting that these three genes whose expression is coordinately regulated are closely linked.

Animals↗
PubMedDate not supplied

Stent placement in the renal artery: three-year experience with the Palmaz stent.

PURPOSE: To evaluate the long-term results of stent placement in the renal arteries. PATIENTS AND METHODS: From January 1990 to August 1994, 59 hypertensive patients underwent 64 stent placement procedures. Indications were residual stenosis after percutaneous transluminal renal angioplasty in 42 patients, restenosis in 20 patients, and acute dissection in two patients. Follow-up (mean, 14 months) was obtained in 54 patients. Six-month restenosis rates were based on results of arteriography, and even more long-term patency rates were based on duplex ultrasound. RESULTS: Technical success was achieved in all patients. Major complications occurred in two patients. No minor or puncture-site complications were observed. The overall 6-month restenosis rate was 1.6% (2.9% for ostial lesions). Survival analysis with the Kaplan-Meier method showed primary and secondary patency rates of 92% +/- 3.6 and 98% +/- 1.9, respectively, at 1 year and 79% +/- 8.8 and 92% +/- 6.1, respectively, at 2 years. Seventy-six percent of hypertensive patients benefited from the procedure. However, renal function was not improved by stent placement. CONCLUSION: Stent placement in renal arteries is a useful adjunct to percutaneous transluminal angioplasty for atherosclerotic renal-artery stenoses.

Adult↗
PubMedDate not supplied

[Neuron-specific enolase in the aqueous humor. Its significance in the differential diagnosis of retinoblastoma].

Several studies support that retinoblastoma originates from a primitive neuroectodermal cell, the main argument being the expression of the neuron-specific enolase (NSE) by the retinoblastic cells. NSE was measured in the aqueous humor taken off: 1) in 19 patients with various eye disorders for which the diagnosis of retinoblastoma was definitely excluded (NSE = 5.0 +/- 7.7 micrograms/l); 2) at the time of the enucleation, in 7 cases of proved retinoblastoma (NSE = 83 to 17,900 micrograms/l); 3) in 2 cases of retinoblastoma held as cured for more than 5 years (NSE = 2.8 and 8.7 micrograms/l). The high level of NSE in the aqueous humor of the subjects with retinoblastoma is very significant, so that it can play a great part in the diagnosis, particularly in the case of atypic tumors. Specific indications of this determination may be considered for the survey of tumors under treatment or of the controlateral eye after a first tumor.

Aqueous Humor↗