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Molecular Basis of Human Von Willebrand Disease: Analysis of Platelet Von Willebrand Factor mRNA
Von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor (vWF). Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in...
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Published in: | Proceedings of the National Academy of Sciences - PNAS 1989-05, Vol.86 (10), p.3723-3727 |
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creator | Ginsburg, David Konkle, Barbara A. Gill, Joan Cox Montgomery, Robert R. Bockenstedt, Paula L. Johnson, Timothy A. Yang, Angela Y. |
description | Von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor (vWF). Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in obtaining the vWF mRNA from patients. By use of an adaptation of the polymerase chain reaction, vWF mRNA was amplified and sequenced from peripheral blood platelets. A silent vWF allele was identified, resulting from a cis defect in vWF mRNA transcription or processing. In two type IIA vWD patients, two different but adjacent missense mutations were identified, the locations of which may identify an important vWF functional domain. Expression in heterologous cells of recombinant vWF containing one of these latter mutations reproduced the characteristic structural abnormality seen in type IIA vWD plasma. |
doi_str_mv | 10.1073/pnas.86.10.3723 |
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Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in obtaining the vWF mRNA from patients. By use of an adaptation of the polymerase chain reaction, vWF mRNA was amplified and sequenced from peripheral blood platelets. A silent vWF allele was identified, resulting from a cis defect in vWF mRNA transcription or processing. In two type IIA vWD patients, two different but adjacent missense mutations were identified, the locations of which may identify an important vWF functional domain. Expression in heterologous cells of recombinant vWF containing one of these latter mutations reproduced the characteristic structural abnormality seen in type IIA vWD plasma.</description><identifier>ISSN: 0027-8424</identifier><identifier>EISSN: 1091-6490</identifier><identifier>DOI: 10.1073/pnas.86.10.3723</identifier><identifier>PMID: 2786201</identifier><identifier>CODEN: PNASA6</identifier><language>eng</language><publisher>Washington, DC: National Academy of Sciences of the United States of America</publisher><subject>550401 - Genetics- Tracer Techniques ; Alleles ; AMINO ACIDS ; Base Sequence ; BASIC BIOLOGICAL SCIENCES ; BETA DECAY RADIOISOTOPES ; BETA-MINUS DECAY RADIOISOTOPES ; Biological and medical sciences ; BIOLOGICAL MATERIALS ; BLOOD ; BLOOD CELLS ; BLOOD COAGULATION FACTORS ; Blood plasma ; BLOOD PLATELETS ; BODY FLUIDS ; CARBOXYLIC ACIDS ; COAGULANTS ; CYSTEINE ; DAYS LIVING RADIOISOTOPES ; DISEASES ; DNA ; DNA POLYMERASES ; DNA SEQUENCING ; DRUGS ; ELECTROPHORESIS ; ENZYMES ; EVEN-ODD NUCLEI ; Fundamental and applied biological sciences. Psychology ; Gene Amplification ; Genes ; Genes. Genome ; Genetic mutation ; Genomics ; GLYCOPROTEINS ; HEMATOLOGIC AGENTS ; HEREDITARY DISEASES ; Humans ; ISOTOPES ; LIGHT NUCLEI ; LIPOTROPIC FACTORS ; MATERIALS ; MESSENGER-RNA ; METHIONINE ; Molecular and cellular biology ; MOLECULAR BIOLOGY ; Molecular genetics ; Mutation ; NUCLEI ; NUCLEIC ACIDS ; NUCLEOTIDYLTRANSFERASES ; Oligonucleotide Probes ; OLIGONUCLEOTIDES ; ORGANIC ACIDS ; ORGANIC COMPOUNDS ; ORGANIC SULFUR COMPOUNDS ; Pedigree ; PHOSPHORUS-GROUP TRANSFERASES ; Platelets ; Polymerase chain reaction ; POLYMERASES ; PROTEINS ; RADIOISOTOPES ; RNA ; RNA POLYMERASES ; RNA, Messenger - genetics ; STRUCTURAL CHEMICAL ANALYSIS ; SULFUR 35 ; SULFUR ISOTOPES ; THIOLS ; TRANSCRIPTION ; TRANSFERASES ; von Willebrand Diseases - genetics ; von Willebrand Factor - genetics</subject><ispartof>Proceedings of the National Academy of Sciences - PNAS, 1989-05, Vol.86 (10), p.3723-3727</ispartof><rights>1990 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4633-b49b78eb2b1964834d2a3aa689b6ad2e6ca0667aafb72779fc3e5fee65aaca963</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://www.pnas.org/content/86/10.cover.gif</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/33947$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/33947$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793,58238,58471</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=6958925$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2786201$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/5299707$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Ginsburg, David</creatorcontrib><creatorcontrib>Konkle, Barbara A.</creatorcontrib><creatorcontrib>Gill, Joan Cox</creatorcontrib><creatorcontrib>Montgomery, Robert R.</creatorcontrib><creatorcontrib>Bockenstedt, Paula L.</creatorcontrib><creatorcontrib>Johnson, Timothy A.</creatorcontrib><creatorcontrib>Yang, Angela Y.</creatorcontrib><title>Molecular Basis of Human Von Willebrand Disease: Analysis of Platelet Von Willebrand Factor mRNA</title><title>Proceedings of the National Academy of Sciences - PNAS</title><addtitle>Proc Natl Acad Sci U S A</addtitle><description>Von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor (vWF). Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in obtaining the vWF mRNA from patients. By use of an adaptation of the polymerase chain reaction, vWF mRNA was amplified and sequenced from peripheral blood platelets. A silent vWF allele was identified, resulting from a cis defect in vWF mRNA transcription or processing. In two type IIA vWD patients, two different but adjacent missense mutations were identified, the locations of which may identify an important vWF functional domain. Expression in heterologous cells of recombinant vWF containing one of these latter mutations reproduced the characteristic structural abnormality seen in type IIA vWD plasma.</description><subject>550401 - Genetics- Tracer Techniques</subject><subject>Alleles</subject><subject>AMINO ACIDS</subject><subject>Base Sequence</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>BETA DECAY RADIOISOTOPES</subject><subject>BETA-MINUS DECAY RADIOISOTOPES</subject><subject>Biological and medical sciences</subject><subject>BIOLOGICAL MATERIALS</subject><subject>BLOOD</subject><subject>BLOOD CELLS</subject><subject>BLOOD COAGULATION FACTORS</subject><subject>Blood plasma</subject><subject>BLOOD PLATELETS</subject><subject>BODY FLUIDS</subject><subject>CARBOXYLIC ACIDS</subject><subject>COAGULANTS</subject><subject>CYSTEINE</subject><subject>DAYS LIVING RADIOISOTOPES</subject><subject>DISEASES</subject><subject>DNA</subject><subject>DNA POLYMERASES</subject><subject>DNA SEQUENCING</subject><subject>DRUGS</subject><subject>ELECTROPHORESIS</subject><subject>ENZYMES</subject><subject>EVEN-ODD NUCLEI</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Amplification</subject><subject>Genes</subject><subject>Genes. Genome</subject><subject>Genetic mutation</subject><subject>Genomics</subject><subject>GLYCOPROTEINS</subject><subject>HEMATOLOGIC AGENTS</subject><subject>HEREDITARY DISEASES</subject><subject>Humans</subject><subject>ISOTOPES</subject><subject>LIGHT NUCLEI</subject><subject>LIPOTROPIC FACTORS</subject><subject>MATERIALS</subject><subject>MESSENGER-RNA</subject><subject>METHIONINE</subject><subject>Molecular and cellular biology</subject><subject>MOLECULAR BIOLOGY</subject><subject>Molecular genetics</subject><subject>Mutation</subject><subject>NUCLEI</subject><subject>NUCLEIC ACIDS</subject><subject>NUCLEOTIDYLTRANSFERASES</subject><subject>Oligonucleotide Probes</subject><subject>OLIGONUCLEOTIDES</subject><subject>ORGANIC ACIDS</subject><subject>ORGANIC COMPOUNDS</subject><subject>ORGANIC SULFUR COMPOUNDS</subject><subject>Pedigree</subject><subject>PHOSPHORUS-GROUP TRANSFERASES</subject><subject>Platelets</subject><subject>Polymerase chain reaction</subject><subject>POLYMERASES</subject><subject>PROTEINS</subject><subject>RADIOISOTOPES</subject><subject>RNA</subject><subject>RNA POLYMERASES</subject><subject>RNA, Messenger - genetics</subject><subject>STRUCTURAL CHEMICAL ANALYSIS</subject><subject>SULFUR 35</subject><subject>SULFUR ISOTOPES</subject><subject>THIOLS</subject><subject>TRANSCRIPTION</subject><subject>TRANSFERASES</subject><subject>von Willebrand Diseases - genetics</subject><subject>von Willebrand Factor - genetics</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><recordid>eNqFkkmP1DAQhS0EGpqGMxISKEIITunxkngZiUMzMAzSsAixHE3FXWEycuImThDz73Ho0CwHOFml99Wrsp8Juc3oilElDrcdxJWWqVgJxcUVsmDUsFwWhl4lC0q5ynXBi-vkRowXlFJTanpADrjSklO2IJ9eBo9u9NBnTyA2MQt1djq20GUfQpd9bLzHqodukz1tIkLEo2zdgb-cyTceBvQ4_A2fgBtCn7VvX61vkms1-Ii35nNJ3p88e3d8mp-9fv7ieH2Wu0IKkVeFqZTGilfMyEKLYsNBAEhtKgkbjtIBlVIB1JXiSpnaCSxrRFkCODBSLMnjne92rFrcOOyGHrzd9k0L_aUN0Ng_la45t5_DV8u14oyn_vu7_hCHxkbXDOjOXeg6dIMtuTEqPfeSPJyH9OHLiHGwbRMdeg8dhjFaZSjTWov_gqzktGQ_HA93oOtDjD3W-40ZtRNgp4StllM9JZw67v5-0T0_R5r0B7MO0YGvUyCuiXtMph9geJmwRzM2-f9Uf82x9ej9gN-GRN77J5mAOzvgIqbU94QQplDiO52N0Bk</recordid><startdate>19890501</startdate><enddate>19890501</enddate><creator>Ginsburg, David</creator><creator>Konkle, Barbara A.</creator><creator>Gill, Joan Cox</creator><creator>Montgomery, Robert R.</creator><creator>Bockenstedt, Paula L.</creator><creator>Johnson, Timothy A.</creator><creator>Yang, Angela Y.</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad Sciences</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19890501</creationdate><title>Molecular Basis of Human Von Willebrand Disease: Analysis of Platelet Von Willebrand Factor mRNA</title><author>Ginsburg, David ; Konkle, Barbara A. ; Gill, Joan Cox ; Montgomery, Robert R. ; Bockenstedt, Paula L. ; Johnson, Timothy A. ; Yang, Angela Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4633-b49b78eb2b1964834d2a3aa689b6ad2e6ca0667aafb72779fc3e5fee65aaca963</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>550401 - Genetics- Tracer Techniques</topic><topic>Alleles</topic><topic>AMINO ACIDS</topic><topic>Base Sequence</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>BETA DECAY RADIOISOTOPES</topic><topic>BETA-MINUS DECAY RADIOISOTOPES</topic><topic>Biological and medical sciences</topic><topic>BIOLOGICAL MATERIALS</topic><topic>BLOOD</topic><topic>BLOOD CELLS</topic><topic>BLOOD COAGULATION FACTORS</topic><topic>Blood plasma</topic><topic>BLOOD PLATELETS</topic><topic>BODY FLUIDS</topic><topic>CARBOXYLIC ACIDS</topic><topic>COAGULANTS</topic><topic>CYSTEINE</topic><topic>DAYS LIVING RADIOISOTOPES</topic><topic>DISEASES</topic><topic>DNA</topic><topic>DNA POLYMERASES</topic><topic>DNA SEQUENCING</topic><topic>DRUGS</topic><topic>ELECTROPHORESIS</topic><topic>ENZYMES</topic><topic>EVEN-ODD NUCLEI</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Amplification</topic><topic>Genes</topic><topic>Genes. Genome</topic><topic>Genetic mutation</topic><topic>Genomics</topic><topic>GLYCOPROTEINS</topic><topic>HEMATOLOGIC AGENTS</topic><topic>HEREDITARY DISEASES</topic><topic>Humans</topic><topic>ISOTOPES</topic><topic>LIGHT NUCLEI</topic><topic>LIPOTROPIC FACTORS</topic><topic>MATERIALS</topic><topic>MESSENGER-RNA</topic><topic>METHIONINE</topic><topic>Molecular and cellular biology</topic><topic>MOLECULAR BIOLOGY</topic><topic>Molecular genetics</topic><topic>Mutation</topic><topic>NUCLEI</topic><topic>NUCLEIC ACIDS</topic><topic>NUCLEOTIDYLTRANSFERASES</topic><topic>Oligonucleotide Probes</topic><topic>OLIGONUCLEOTIDES</topic><topic>ORGANIC ACIDS</topic><topic>ORGANIC COMPOUNDS</topic><topic>ORGANIC SULFUR COMPOUNDS</topic><topic>Pedigree</topic><topic>PHOSPHORUS-GROUP TRANSFERASES</topic><topic>Platelets</topic><topic>Polymerase chain reaction</topic><topic>POLYMERASES</topic><topic>PROTEINS</topic><topic>RADIOISOTOPES</topic><topic>RNA</topic><topic>RNA POLYMERASES</topic><topic>RNA, Messenger - genetics</topic><topic>STRUCTURAL CHEMICAL ANALYSIS</topic><topic>SULFUR 35</topic><topic>SULFUR ISOTOPES</topic><topic>THIOLS</topic><topic>TRANSCRIPTION</topic><topic>TRANSFERASES</topic><topic>von Willebrand Diseases - genetics</topic><topic>von Willebrand Factor - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ginsburg, David</creatorcontrib><creatorcontrib>Konkle, Barbara A.</creatorcontrib><creatorcontrib>Gill, Joan Cox</creatorcontrib><creatorcontrib>Montgomery, Robert R.</creatorcontrib><creatorcontrib>Bockenstedt, Paula L.</creatorcontrib><creatorcontrib>Johnson, Timothy A.</creatorcontrib><creatorcontrib>Yang, Angela Y.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ginsburg, David</au><au>Konkle, Barbara A.</au><au>Gill, Joan Cox</au><au>Montgomery, Robert R.</au><au>Bockenstedt, Paula L.</au><au>Johnson, Timothy A.</au><au>Yang, Angela Y.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Basis of Human Von Willebrand Disease: Analysis of Platelet Von Willebrand Factor mRNA</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>1989-05-01</date><risdate>1989</risdate><volume>86</volume><issue>10</issue><spage>3723</spage><epage>3727</epage><pages>3723-3727</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><coden>PNASA6</coden><abstract>Von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, can result from either a quantitative or a qualitative defect in the adhesive glycoprotein, von Willebrand factor (vWF). Molecular studies of vWD have been limited by the large size of the vWF gene and difficulty in obtaining the vWF mRNA from patients. By use of an adaptation of the polymerase chain reaction, vWF mRNA was amplified and sequenced from peripheral blood platelets. A silent vWF allele was identified, resulting from a cis defect in vWF mRNA transcription or processing. In two type IIA vWD patients, two different but adjacent missense mutations were identified, the locations of which may identify an important vWF functional domain. Expression in heterologous cells of recombinant vWF containing one of these latter mutations reproduced the characteristic structural abnormality seen in type IIA vWD plasma.</abstract><cop>Washington, DC</cop><pub>National Academy of Sciences of the United States of America</pub><pmid>2786201</pmid><doi>10.1073/pnas.86.10.3723</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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language | eng |
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source | JSTOR Archival Journals and Primary Sources Collection; PubMed Central |
subjects | 550401 - Genetics- Tracer Techniques Alleles AMINO ACIDS Base Sequence BASIC BIOLOGICAL SCIENCES BETA DECAY RADIOISOTOPES BETA-MINUS DECAY RADIOISOTOPES Biological and medical sciences BIOLOGICAL MATERIALS BLOOD BLOOD CELLS BLOOD COAGULATION FACTORS Blood plasma BLOOD PLATELETS BODY FLUIDS CARBOXYLIC ACIDS COAGULANTS CYSTEINE DAYS LIVING RADIOISOTOPES DISEASES DNA DNA POLYMERASES DNA SEQUENCING DRUGS ELECTROPHORESIS ENZYMES EVEN-ODD NUCLEI Fundamental and applied biological sciences. Psychology Gene Amplification Genes Genes. Genome Genetic mutation Genomics GLYCOPROTEINS HEMATOLOGIC AGENTS HEREDITARY DISEASES Humans ISOTOPES LIGHT NUCLEI LIPOTROPIC FACTORS MATERIALS MESSENGER-RNA METHIONINE Molecular and cellular biology MOLECULAR BIOLOGY Molecular genetics Mutation NUCLEI NUCLEIC ACIDS NUCLEOTIDYLTRANSFERASES Oligonucleotide Probes OLIGONUCLEOTIDES ORGANIC ACIDS ORGANIC COMPOUNDS ORGANIC SULFUR COMPOUNDS Pedigree PHOSPHORUS-GROUP TRANSFERASES Platelets Polymerase chain reaction POLYMERASES PROTEINS RADIOISOTOPES RNA RNA POLYMERASES RNA, Messenger - genetics STRUCTURAL CHEMICAL ANALYSIS SULFUR 35 SULFUR ISOTOPES THIOLS TRANSCRIPTION TRANSFERASES von Willebrand Diseases - genetics von Willebrand Factor - genetics |
title | Molecular Basis of Human Von Willebrand Disease: Analysis of Platelet Von Willebrand Factor mRNA |
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