The molecular and genetic base of congenital transport defects
[...]genetic heterogeneity may be present in the first two diseases and the defects may not be identical in the kidney and intestine. [...]genetic control for the transport of this group of amino acids must be at four different sites at least. 3 Cystinuria is the most common congenital amino acid tr...
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| Veröffentlicht in: | Gut 2000-05, Vol.46 (5), p.585-587 |
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| container_title | Gut |
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| creator | DESJEUX, J-F |
| description | [...]genetic heterogeneity may be present in the first two diseases and the defects may not be identical in the kidney and intestine. [...]genetic control for the transport of this group of amino acids must be at four different sites at least. 3 Cystinuria is the most common congenital amino acid transport defect. The frequent log normal distribution of an enzymatic activity or transport capacity may be considered as the functional counterpart of the gene polymorphism. [...]for the future nutritional recommendations in a specific population it may be possible to include data on the polymorphism of genes coding for nutrient absorption. |
| doi_str_mv | 10.1136/gut.46.5.585 |
| format | Article |
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[...]genetic control for the transport of this group of amino acids must be at four different sites at least. 3 Cystinuria is the most common congenital amino acid transport defect. The frequent log normal distribution of an enzymatic activity or transport capacity may be considered as the functional counterpart of the gene polymorphism. [...]for the future nutritional recommendations in a specific population it may be possible to include data on the polymorphism of genes coding for nutrient absorption.</description><identifier>ISSN: 0017-5749</identifier><identifier>EISSN: 1468-3288</identifier><identifier>EISSN: 1458-3288</identifier><identifier>DOI: 10.1136/gut.46.5.585</identifier><identifier>PMID: 10764694</identifier><identifier>CODEN: GUTTAK</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><subject>Amino acids ; Biological Transport - genetics ; Congenital diseases ; Copper ; Defects ; Diarrhea ; Disease ; Gastroenterology ; Gene expression ; Genotype ; Glucose ; Humans ; Leading ; Malabsorption Syndromes - congenital ; Malabsorption Syndromes - genetics ; Molecular Biology ; Mutation ; Phenotype ; Proteins ; Rodents</subject><ispartof>Gut, 2000-05, Vol.46 (5), p.585-587</ispartof><rights>British Society of Gastroenterology</rights><rights>Copyright: 2000 British Society of Gastroenterology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b478t-bf60a29dfb8a1ef8c74f6664e14ec9511a5b2d3963253dcb215f17397ea813aa3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1727911/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1727911/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10764694$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DESJEUX, J-F</creatorcontrib><title>The molecular and genetic base of congenital transport defects</title><title>Gut</title><addtitle>Gut</addtitle><description>[...]genetic heterogeneity may be present in the first two diseases and the defects may not be identical in the kidney and intestine. 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genetics</topic><topic>Congenital diseases</topic><topic>Copper</topic><topic>Defects</topic><topic>Diarrhea</topic><topic>Disease</topic><topic>Gastroenterology</topic><topic>Gene expression</topic><topic>Genotype</topic><topic>Glucose</topic><topic>Humans</topic><topic>Leading</topic><topic>Malabsorption Syndromes - congenital</topic><topic>Malabsorption Syndromes - genetics</topic><topic>Molecular Biology</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Proteins</topic><topic>Rodents</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DESJEUX, J-F</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Applied & Life Sciences</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Gut</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DESJEUX, J-F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The molecular and genetic base of congenital transport defects</atitle><jtitle>Gut</jtitle><addtitle>Gut</addtitle><date>2000-05-01</date><risdate>2000</risdate><volume>46</volume><issue>5</issue><spage>585</spage><epage>587</epage><pages>585-587</pages><issn>0017-5749</issn><eissn>1468-3288</eissn><eissn>1458-3288</eissn><coden>GUTTAK</coden><abstract>[...]genetic heterogeneity may be present in the first two diseases and the defects may not be identical in the kidney and intestine. [...]genetic control for the transport of this group of amino acids must be at four different sites at least. 3 Cystinuria is the most common congenital amino acid transport defect. The frequent log normal distribution of an enzymatic activity or transport capacity may be considered as the functional counterpart of the gene polymorphism. [...]for the future nutritional recommendations in a specific population it may be possible to include data on the polymorphism of genes coding for nutrient absorption.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd and British Society of Gastroenterology</pub><pmid>10764694</pmid><doi>10.1136/gut.46.5.585</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Amino acids Biological Transport - genetics Congenital diseases Copper Defects Diarrhea Disease Gastroenterology Gene expression Genotype Glucose Humans Leading Malabsorption Syndromes - congenital Malabsorption Syndromes - genetics Molecular Biology Mutation Phenotype Proteins Rodents |
| title | The molecular and genetic base of congenital transport defects |
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