Biochimica e biologia molecolare - database informatici

PubMed search for cystic fibrosis AND 2002

Entrez PubMed PubMed Services Related Resources Use All Fields pull-down menu to specify a field. Boolean operators AND, OR, NOT must be in upper case. If search fields tags are used enclose in square brackets, e.g., rubella [ti]. Search limits may exclude in process and publisher supplied citations.

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Details

Use the format YYYY/MM/DD; month and day are optional. PubMedSearch PubMed for cystic fibrosis AND 2002 [publication date]. Use All Fields pull-down menu to specify a field. Boolean operators AND, OR, NOT must be in upper case. If search fields tags are used enclose in square brackets, e.g., rubella [ti]. Search limits may exclude in process and publisher supplied citations. Limited to: All Fields, only items with abstracts, Review, Ages.

Publication date

Use the format YYYY/MM/DD; month and day are optional. Limits: Review Items 1-20 of 211

1. Gether U, Asmar F, Meinild AK, Rasmussen SG. Structural basis for activation of G-protein-coupled receptors. Pharmacol Toxicol. 2002 Dec;91(6):304-12. Review. PMID: 12688373 [PubMed - indexed for MEDLINE]
2. Moran A. Diagnosis, screening, and management of cystic fibrosis-related diabetes. Curr Diab Rep. 2002 Apr;2(2):111-5. Review. PMID: 12643130 [PubMed - indexed for MEDLINE]
3. Lavden TJ, Kulik L. Hepatic manifestations of pulmonary diseases. Clin Liver Dis. 2002 Nov;6(4):969-79, ix. Review. PMID: 12516202 [PubMed - indexed for MEDLINE]
4. Antezack A, Gorski P. Markers of pulmonary diseases in exhaled breath condensate. Int J Occup Med Environ Health. 2002;15(4):317-23. Review. PMID: 12608619 [PubMed - indexed for MEDLINE]
5. Pin I, Pilenko C, Bost M. [Prevention of respiratory syncytial virus infection by SYNAGIS (palivizumab)] Allerg Immunol (Paris). 2002 Dec;34(10):371-4. Review. French. PMID: 12575622 [PubMed - indexed for MEDLINE]
6. Allard-Recocque C, Bertocchi M, Morren JE. [Specific complications after lung transplantation for cystic fibrosis] Rev Pneumol Clin. 2002 Dec;58(6 Pt 1):307-10. Review. French. PMID: 12545130 [PubMed - indexed for MEDLINE]
7. Riddington C, De Franceschi L. Drugs for preventing red blood cell dehydration in people with sickle cell disease. Cochrane Database Syst Rev. 2002;(4):CD003426. Review. PMID: 12519997 [PubMed - indexed for MEDLINE]
8. Owusu-Ofori S, Riddington C. Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease. Cochrane Database Syst Rev. 2002;(4):CD003425. Review. PMID: 12519996 [PubMed - indexed for MEDLINE]

OMIM^TM - Online Mendelian Inheritance in Man^TM

Enter one or more search terms. Use Limits to restrict your search by search field, chromosome, and other criteria. Use Index to browse terms found in OMIM records. Use History to retrieve records from previous searches, or to combine searches. NEW OMIM is now incorporated into NCBI's Entrez system and can be queried using the same approach as the other Entrez databases such as PubMed and GenBank. The previous OMIM pages are still available here.

Welcome to OMIM, Online Mendelian Inheritance in Man. This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere.

Items 1-20 of 72

1. 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED Gene map locus 4q35
2. 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Gene map locus Xp21.2, 12q21
3. 253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD Gene map locus 9q31
4. 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGM2DC SARCOGLYCAN, GAMMA, INCLUDED; SGCG, INCLUDED Gene map locus 13q12
5. 300377 DYSTROPHIN; DMD APO-DYSTROPHIN 1, INCLUDED Gene map locus Xp21.2
6. 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD Gene map locus Xp21.2

#310200 Muscular dystrophy, Duchenne type; DMD

Alternative titles; symbols DUCHENNE MUSCULAR DYSTROPHY MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE Gene map locus _{Xp21.2, 12q21}

Description

A number sign (#) is used with this entry because Duchenne muscular dystrophy is caused by mutation in the gene encoding dystrophin (DMD; ₃₀₀₃₇₇). Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; ₃₀₀₃₇₆). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. Boland et al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed.

Homo sapiens map view build 32

Chromosome: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 | X | Y Query: DMD [clear] Master Map: Genes On Cytogenetic Total Genes On Chromosome: 1643 Region Displayed: Xp21.3-Xp21.1 Genes Labeled: 20 Total Genes in Region: 125

• MAGEB2 sv ev - Xp21.3 melanoma
• MAGEB3 sv ev - Xp21.3 melanoma
• MAGEB1 sv ev - Xp21.3 melanoma
• MAGEB4 sv ev - Xp21.3 melanoma
• GK sv ev - Xp21 glycerol ki
• OED - - Xp21.3 Oregon ey
• ASB9 - - Xp21.3 ankyrin rep
• ZFX sv - Xp21.3 zinc finger
• DSS sv ev - Xp21.3 dosage-sen
• FTHL17 sv ev - Xp21 ferritin, he
• DFN4 - - Xp21.2 deafness, n
• DMD sv ev - Xp21.2 dystrophin
• SRS - - Xp21 Snyder-Ro
• GTD - - Xp21 Gonadotrop
• TCTE1L sv ev - Xp21 t-complex
• CYBB - - Xp21.1 cytochrom
• SRPX sv ev - Xp21.1 sushi-repeat
• MKRN4 - - Xp21 makorin, ri
• OTC sv ev - Xp21.1 ornithine c
• CA5B sv ev - Xp21.1 carbonic an

Entrez Genome

The whole genomes of over 1000 viruses and over 100 microbes can be found in Entrez Genome. The genomes represent both completely sequenced organisms and those for which sequencing is in progress. All three main domains of life - bacteria, archaea, and eukaryota - are represented, as well as many viruses and organelles.

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Recently completed genome: Shigella flexneri 2a str. 2457T Publication Date: April 2003 Reference: Wei, J. et al. Complete Genome Sequence and Comparative Genomics of Shigella flexneri Serotype 2a Strain 2457T. Infect. Immun. 71 (5), 2775-2786 (2003). Size: 4,599,354 bp. The complete genome sequence of Shigella flexneri 2a str. 2457T is deposited under GenBank Accession Number AE014073.

Bacteria

Shigella is an important human pathogen, responsible for the majority of cases of endemic bacillary dysentery prevalent in developing nations. An estimated 1.1 million deaths and 160 million cases per year are attributed to shigellosis. Currently, no vaccine is available that can provide adequate protection against the many different serotypes of Shigella. Existing antimicrobial treatments are becoming compromised due to increased antibiotic resistance, cost of treatment, and continuing poor hygiene and unsanitary conditions in the developing world.

Eukaryote genome projects in progress

NCBI is working in close collaboration with the various sequencing centers to provide new and updated relevant information about the ongoing genome sequencing programs for organisms of all three domains of life. Entrez Genomes is in the process of updating its pages and will display in a short future a complete list of all eukaryote sequencing efforts for which genomic data is publicly available. Please note the color-coded organism title, which reflects the sequencing effort in progress: Large-scale genome sequencing; Small-scale genome sequencing; EST, GSS, or cDNA sequencing

• Apicomplexa: Babesia bovis, Eimeria tenella, Cryptosporidium parvum, Plasmodium berchei, Plasmodium chabaudi, Plasmodium falciparum, Plasmodium knowlesi, Plasmodium vivax, Plasmodium yoelii, Theileria annulata, Theileria parva, Toxoplasma gondii
• Bacillariophyta: Dictyostelida, Entamoebidae, Thalassiosira pseudonana, Dictyostelium discoideum, Entamoeba histolytica
• Fungi: Aspergillus fumigatus, Aspergillus nidulans, Aspergillus parasiticus, Candida albicans, Cryptococcus neoformans, Fusarium sporotrichioides, Neurospora crassa, Phanerochaete chrysosporium, Saccharomyces cerevisiae, Schizosaccharomyces pombe, Pneumocystis carinii, Aspergillus terreus
• Hexamitidae: Giardia lamblia
• Kinetoplastida: Leishmania major, Trypanosoma brucei, Trypanosoma cruzi
• Trematoda: Schistosoma japonicum, Schistosoma mansoni
• Metazoan Arthropoda: Aedes aegypti, Aedes albopictus, Aedes triseriatus, Anopheles gambiae, Anis mellifera ligustica, Culex pipiens, Drosophila melanogaster, Glossina morsitans
• Metazoan Chordata: Bos taurus, Ciona intestinalis, Danio rerio, Fugu rubripes, Gallus gallus, Homo sapiens, Mus musculus, Pan troglodytes, Rattus norvegicus, Sus scrofa, Xenopus laevis, Xenopus tropicalis
• Metazoan Nematoda: Brugia malayi, Caenorhabditis briggsae, Caenorhabditis elegans
• Microsporidia: Encephalitozoon cuniculi
• Rhodophyta: Porphyra yezoensis

The Entrez Nucleotides database

The Entrez Nucleotides database is a collection of sequences from several sources, including GenBank, RefSeq, and PDB. The number of bases grows at an exponential rate. Today's total is: 20197497508.

Draft Human Genome

Explore http://www.ncbi.nlm.nih.gov/genome/seq/HsHome or browse the human genome sequence using the Map Viewer.

Building the human genome While the draft sequence of the human genome was officially launched early in 2001, data are produced on a continuous basis. This allows the reference human genome sequence to be further refined and completed as an ongoing process. At NCBI, new versions of the assembled genomic sequence are released every few weeks. The current version is listed as a build number on the Genome View page. Each build has an accompanying set of statistics and release notes. The cytogenetic and sequence locations of human genes implicated in breast cancer (build 31).

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Search Set subsequence From: To: Choose database nr Do CD-Search Now: BLAST or Reset query Reset all Options for advanced blasting Limit by entrez query or select from: Composition-based statistics Choose filter Low complexity Mask for lookup table only Mask lower case Expect 10 Word Size 3 Matrix BLOSUM62 Gap Costs Existence: 11 Extension: 1 PSSM Other advanced PHI pattern

Your request has been successfully submitted and put into the Blast Queue. Query = (494 letters) Putative conserved domains have been detected, click on the image below for detailed results. The request ID is 1051605710-021153-29252. The results are estimated to be ready in 2 minutes 50 seconds but may be done sooner. Please press "FORMAT!" when you wish to check your results. You may change the formatting options for your results via the form below and press "FORMAT!" again. You may also request results of a different search by entering any other valid request ID to see other recent jobs.

Format Show Graphical Overview Linkout Sequence Retrieval NCBI-a gi Number of: Descriptions 100 Alignments 50 Aliement view Pairwise Format for PSI-BLAST with inclusion threshold: Limit results by entrez query or select from: (none) Expect value range: BLASTP 2.2.6 [Apr-09-2003] Reference: Altschul, Stephen F., Thomas L. Madden, Alejandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Miller, and David J. Lipman (1997), "Gapped BLAST and PSI-BLAST: a new generation of protein database search programs", Nucleic Acids Res. 25:3389-3402. RID: 1051C05710-021153-29252 Query=(494 letters) Database: All non-redundant GenBank CDS translations+PDB+SwissProt+PIR+PRF 1,419,727 sequences; 456,953,620 total letters

If you have any problems or questions with the results of this search please refer to the BLAST FAQ Taxonomy reports Distribution of 101 Blast Hits on the Query Sequence Mouse-over to show defline and scores. Click to show alignments Color Key for Alignment Scores <40 40-50 50-80 80-200 >=200