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16 results on '"San‐Millan, J. L."'

3. Analysis of published PKD1 gene sequence variants

Author

Gout, A. M., ADPKD Gene Variant Consortium, Ravine, D., Harris, P. C., Rossetti, S., Peters, D., Breuning, M., Henske, E. P., Koizumi, A., Inoue, S., Shimizu, Y., Thongnoppakhun, W., Yenchitsomanus, P. T., Deltas, C., Sandford, R., Torra, R., Turco, Alberto, Jeffery, S., Fontes, M., Somlo, S., Furu, L. M., Smulders, Y. M., Mercier, B., Ferec, C., Burtey, S., Pei, Y., Kalaydjieva, L., Bogdanova, N., Mccluskey, M., Geon, L. J., Wouters, C. H., Reiterova, J., Stekrová, J., San Millan, J. L., Aguiari, G., and Del Senno, L.

Subjects
Genetics, sequence variants, Polymorphism, Genetic, TRPP Cation Channels, PKD1, Base Sequence, business.industry, Biology, Text mining, ADPKD, Polymorphism (computer science), Research Design, Humans, Base sequence, Gene sequence, business
Published
2007

4. Analysis of published PKD1 gene sequence variants [3]

Author

Gout, A. M., Ravine, D., Harris, Peter C., Rossetti, S., Peters, D., Breuning, M., Henske, E. P., Koizumi, A., Inoue, S., Shimizu, Y., Thongnoppakhun, W., Yenchitsomanus, P. -T, Constantinou-Deltas, Constantinos D., Sandford, R., Torra, R., Turco, A. E., Jeffery, S., Fontes, M., Somlo, Stefan, Furu, L. M., Smulders, Y. M., Mercier, B., Ferec, C., Burtey, S., Pei, Y., Kalaydjieva, L., Bogdanova, N., McCluskey, M., Geon, L. J., Wouters, C. H., Reiterova, J., Stekrová, J., San Millan, J. L., Aguiari, G., Senno, L. D., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Polymorphism, Genetic, polycystin 1, TRPP Cation Channels, Base Sequence, gene locus, genotype, letter, nucleotide sequence, gene sequence, genetic analysis, genetic risk, kidney polycystic disease, priority journal, Research Design, data base, computer program, genetic variability, Humans, genetic polymorphism, pathogenicity, human, gene mutation, orthology
Abstract

39 427 428 Cited By :13

Published
2007

11. Use of phoA fusions to study the topology of the Escherichia coli inner membrane protein leader peptidase

Author

San Millan, J L, Boyd, D, Dalbey, R, Wickner, W, and Beckwith, J

Abstract

A topology of the Escherichia coli leader peptidase has been previously proposed on the basis of proteolytic studies. Here, a collection of alkaline phosphatase fusions to leader peptidase is described. Fusions to the periplasmic domain of this protein exhibit high alkaline phosphatase activity, while fusions to the cytoplasmic domain exhibit low activity. Elements within the cytoplasmic domain are necessary to stably anchor alkaline phosphatase in the cytoplasm. The amino-terminal hydrophobic segment of leader peptidase acts as a weak export signal for alkaline phosphatase. However, when this segment is preceded by four lysines, it acts as a highly efficient export signal. The coherence of in vitro studies with alkaline phosphatase fusion analysis of the topology of leader peptidase further indicates the utility of this genetic approach to membrane protein structure and insertion.

Published
1989
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12. Cloning and mapping of the genetic determinants for microcin B17 production and immunity

Author

San Millan, J L, Hernandez-Chico, C, Pereda, P, and Moreno, F

Abstract

Plasmid pMccB17 (70 kilobases [kb]) codes for the production of microcin B17, a peptide that inhibits DNA synthesis, and for microcin B17 immunity. A BamHI-EcoRI fragment of 5.1 kb from pMccB17 was cloned into pBR322 in two steps. The resulting plasmid (pMM102) overproduced microcin B17 and expressed immunity against microcin. Mcc- and Mcc- Imm- mutants were isolated on plasmids pMccB17 and pMM102 by deleting various DNA fragments and by inserting different translocatable elements. Physical and phenotypic characterization of these mutants showed that a DNA region of 3.0 to 3.5 kb is required to produce microcin B17, whereas an adjacent region of about 1.0 kb is required to express microcin B17 immunity.

Published
1985
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13. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Author

Magistroni, R., He, N., Wang, K., Andrew, R., Johnson, A., Gabow, P., Dicks, E., Parfrey, P., Torra, R., San-Millan, J. L., Coto, E., Van Dijk, M., Breuning, M., Peters, D., Bogdanova, N., Ligabue, G., Albertazzi, A., Hateboer, N., Demetriou, Kyproula, Pierides, Alkis M., Constantinou-Deltas, Constantinos D., St. George-Hyslop, P., Ravine, D., Pei, Y., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Male, genotype, correlation analysis, pkd1 gene, DNA Mutational Analysis, urologic and male genital diseases, Kidney, Gastroenterology, Severity of Illness Index, genetic heterogeneity, Cohort Studies, Locus heterogeneity, pkd2 gene, gene mutation, Age of Onset, kidney function, Frameshift Mutation, Aged, 80 and over, adult, article, General Medicine, chronic kidney failure, Middle Aged, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, aged, female, priority journal, Nephrology, Codon, Nonsense, disease severity, Allelic heterogeneity, Female, survival rate, onset age, Adult, medicine.medical_specialty, TRPP Cation Channels, Genotype, sex difference, Autosomal dominant polycystic kidney disease, Mutation, Missense, Renal function, Biology, Open Reading Frames, male, Internal medicine, Severity of illness, medicine, ADPKD, mutation, renal function, Humans, Family, human, Sex Distribution, gene, Aged, PKD1, Membrane Proteins, Proteins, medicine.disease, major clinical study, kidney failure, kidney polycystic disease, Endocrinology, RNA Splice Sites, Age of onset, Gene Deletion, Kidney disease
Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to 85% and 10 to 15% of the cases, respectively. Significant interfamilial and intrafamilial renal disease variability in ADPKD has been well documented. Locus heterogeneity is a major determinant for interfamilial disease variability (i.e., patients from PKD1-linked families have a significantly earlier onset of ESRD compared with patients from PKD2-linked families). More recently, two studies have suggested that allelic heterogeneity might influence renal disease severity. The current study examined the genotype-renal function correlation in 461 affected individuals from 71 ADPKD families with known PKD2 mutations. Fifty different mutations were identified in these families, spanning between exon 1 and 14 of PKD2. Most (94%) of these mutations were predicted to be inactivating. The renal outcomes of these patients, including the age of onset of end-stage renal disease (ESRD) and chronic renal failure (CRF defined as creatinine clearance ≤ 50 ml/min, calculated using the Cockroft and Gault formula), were analyzed. Of all the affected individuals clinically assessed, 117 (25.4%) had ESRD, 47 (10.2%) died without ESRD, 65 (14.0%) had CRF, and 232 (50.3%) had neither CRF nor ESRD at the last follow-up. Female patients, compared with male patients, had a later mean age of onset of ESRD (76.0 [95% CI, 73.8 to 78.1] versus 68.1 [95% CI, 66.0 to 70.2] yr) and CRF (72.5 [95% CI, 70.1 to 74.9] versus 63.7 [95% CI, 61.4 to 66.0] yr). Linear regression and renal survival analyses revealed that the location of PKD2 mutations did not influence the age of onset of ESRD. However, patients with splice site mutations appeared to have milder renal disease compared with patients with other mutation types (P < 0.04 by log rank test adjusted for the gender effect). Considerable renal disease variability was also found among affected individuals with the same PKD2 mutations. This variability can confound the determination of allelic effects and supports the notion that additional genetic and/or environmental factors may modulate the renal disease severity in ADPKD. 14 1164 1174 Cited By :80

14. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group.

Author

Hateboer, Nick, Dijk, Marjan A. v., Bogdanova, Nadja, Coto, Eliecer, Saggar-Malik, Anand K., Millan, Jose L. San, Torra, Roser, Breuning, Martijn, Ravine, David, Hateboer, N, v Dijk, M A, Bogdanova, N, Coto, E, Saggar-Malik, A K, San Millan, J L, Torra, R, Breuning, M, and Ravine, D

Subjects
*POLYCYSTIC kidney disease, *KIDNEY diseases, *HUMAN chromosome abnormalities, *CYSTIC kidney disease, *LIFE expectancy, *FORECASTING, *MORTALITY
Abstract

Background: Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compared with an unaffected control population in terms of survival. We report the findings of a multicentre survey that aimed to define more precisely the survival and clinical expression of PKD1 and PKD2.Methods: Clinical data from 333 people with PKD1 (31 families) were compared with data from 291 people with PKD2 (31 families) and 398 geographically matched controls. Survival analysis was used to compare age-at-event data. Differences in the prevalence of complications were assessed by logistic regression.Findings: Median age at death or onset of end-stage renal disease was 53.0 years (95% CI 51.2-54.8) in individuals with PKD1, 69.1 years (66.9-71.3) in those with PKD2, and 78.0 years (73.8-82.2) in controls. Women with PKD2 had a significantly longer median survival than men (71.0 [67.4-74.8] vs 67.3 [64.9-69.7] years), but no sex influence was apparent in PKD1. Age at presentation with kidney failure was later in PKD2 than in PKD1 (median age 74.0 [67.2-80.8] vs 54.3 [52.7-55.9] years). PKD2 patients were less likely to have hypertension (odds ratio 0.25 [95% CI 0.15-0.42]), a history of urinary-tract infection (0.50 [0.31-0.83]), or haematuria (0.59 [0.35-0.98]).Interpretation: Although PKD2 is clinically milder than PKD1, it has a deleterious impact on overall life expectancy and cannot be regarded as a benign disorder. [ABSTRACT FROM AUTHOR]

Published
1999
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15. The EUROGEM map of human chromosome 5.

Author

Villamar M, Gomendio B, Perera E, Telleria D, Fizames C, San Millan JL, Weissenbach J, Schott JJ, Dixon M, and Hollyoake M

Subjects
Humans, Chromosome Mapping, Chromosomes, Human, Pair 5, Genetic Linkage
Published
1994

16. Thyroglobulin gene point mutation associated with non-endemic simple goitre.

Author

Corral J, Martín C, Pérez R, Sánchez I, Mories MT, San Millan JL, Miralles JM, and González-Sarmiento R

Subjects
Adult, Base Sequence, Female, Genetic Linkage, Goiter etiology, Humans, Male, Middle Aged, Pedigree, Goiter genetics, Point Mutation, Thyroglobulin genetics
Abstract

Simple goitre is defined as an enlargement of the thyroid gland that is not the result of an inflammatory or neoplastic process and is not associated with thyrotoxicosis or myxoedema; the cause is unknown in most cases. Structural or regulatory defects in the proteins involved in thyroid metabolism might be involved in the functional abnormality that brings about the disorder. We have found a mutation within exon 10 of the thyroglobulin gene in 25 of 56 members of three families affected by simple goitre; 14 of the gene carriers had the disorder. DNA sequencing showed a mis-sense mutation within thyroglobulin gene exon 10, resulting in a glutamine to histidine substitution. Thus, some cases of non-endemic simple goitre are associated with a mutation at the thyroglobulin locus.

Published
1993
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