Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis
Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects...
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| Veröffentlicht in: | American journal of physiology. Renal physiology 2015-06, Vol.308 (12), p.F1335-F1342 |
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| container_end_page | F1342 |
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| container_issue | 12 |
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| container_title | American journal of physiology. Renal physiology |
| container_volume | 308 |
| creator | Davisson, Muriel T Cook, Susan A Akeson, Ellen C Liu, Don Heffner, Caleb Gudis, Polyxeni Fairfield, Heather Murray, Stephen A |
| description | Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis. |
| doi_str_mv | 10.1152/ajprenal.00410.2014 |
| format | Article |
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We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. 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Renal physiology</title><addtitle>Am J Physiol Renal Physiol</addtitle><description>Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.</description><subject>Animals</subject><subject>Call for Papers</subject><subject>Chromosomes</subject><subject>Gene Expression Regulation, Developmental - genetics</subject><subject>Genes</subject><subject>Hydronephrosis - etiology</subject><subject>Hydronephrosis - genetics</subject><subject>Kidney - abnormalities</subject><subject>Kidney - metabolism</subject><subject>Kidneys</subject><subject>Mammals</subject><subject>Mice, Inbred C57BL</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Organogenesis - genetics</subject><subject>Organogenesis - physiology</subject><subject>Rodents</subject><subject>Transcription Factors - genetics</subject><subject>Transcription Factors - metabolism</subject><subject>Urogenital Abnormalities - metabolism</subject><issn>1931-857X</issn><issn>1522-1466</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFks1u1DAUhSMEomXgCZCQJTYsmuK_JPYGCVX8iUpsQGJn3cY3M54mdrCTQfNgvB_OTFsoG1bX8v18fO7VKYrnjJ4zVvHXsB0jeujPKZX5jlMmHxSnucNLJuv6YT5rwUpVNd9PiicpbSmljHH2uDjhlRKSNvS0-PXZWY97Anafxh6SAwLekh1EB1c9ks3exuBx3MSQXDojQDz-JMM8weSCJ9B12E7Or8m0QRKsLdO1G0e0JGIPU66MrNEjcf5ADGFOeEZayCX9-cXiIpMW6vrox-IO-zAO6KeDofs-nhaPOugTPrupq-Lb-3dfLz6Wl18-fLp4e1m2eQFT2SmtkUnOFWuopqAb3nDaoRZCMK2lbECrSnLsBAfOORWAkolG1UywtkGxKt4cdcf5akDbZjcRejNGN0DcmwDO3O94tzHrsDNS1lqpJgu8uhGI4ceMaTKDSy32PXjMqzBMcaElVZr_H62VrjlTkmb05T_oNswxR2GhNJe6avKEq0IcqTbvLEXs7nwzapYEmdsEmUOCzJKg_OrF3yPfvbmNjPgNyr_GeQ</recordid><startdate>20150615</startdate><enddate>20150615</enddate><creator>Davisson, Muriel T</creator><creator>Cook, Susan A</creator><creator>Akeson, Ellen C</creator><creator>Liu, Don</creator><creator>Heffner, Caleb</creator><creator>Gudis, Polyxeni</creator><creator>Fairfield, Heather</creator><creator>Murray, Stephen A</creator><general>American Physiological Society</general><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>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20150615</creationdate><title>Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis</title><author>Davisson, Muriel T ; Cook, Susan A ; Akeson, Ellen C ; Liu, Don ; Heffner, Caleb ; Gudis, Polyxeni ; Fairfield, Heather ; Murray, Stephen A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c466t-f899e1422817090a972720fe9333199447a98542ef32a22203ae413786131c7e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Animals</topic><topic>Call for Papers</topic><topic>Chromosomes</topic><topic>Gene Expression Regulation, Developmental - genetics</topic><topic>Genes</topic><topic>Hydronephrosis - etiology</topic><topic>Hydronephrosis - genetics</topic><topic>Kidney - abnormalities</topic><topic>Kidney - metabolism</topic><topic>Kidneys</topic><topic>Mammals</topic><topic>Mice, Inbred C57BL</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Organogenesis - genetics</topic><topic>Organogenesis - physiology</topic><topic>Rodents</topic><topic>Transcription Factors - genetics</topic><topic>Transcription Factors - metabolism</topic><topic>Urogenital Abnormalities - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Davisson, Muriel T</creatorcontrib><creatorcontrib>Cook, Susan A</creatorcontrib><creatorcontrib>Akeson, Ellen C</creatorcontrib><creatorcontrib>Liu, Don</creatorcontrib><creatorcontrib>Heffner, Caleb</creatorcontrib><creatorcontrib>Gudis, Polyxeni</creatorcontrib><creatorcontrib>Fairfield, Heather</creatorcontrib><creatorcontrib>Murray, Stephen A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of physiology. Renal physiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Davisson, Muriel T</au><au>Cook, Susan A</au><au>Akeson, Ellen C</au><au>Liu, Don</au><au>Heffner, Caleb</au><au>Gudis, Polyxeni</au><au>Fairfield, Heather</au><au>Murray, Stephen A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis</atitle><jtitle>American journal of physiology. Renal physiology</jtitle><addtitle>Am J Physiol Renal Physiol</addtitle><date>2015-06-15</date><risdate>2015</risdate><volume>308</volume><issue>12</issue><spage>F1335</spage><epage>F1342</epage><pages>F1335-F1342</pages><issn>1931-857X</issn><eissn>1522-1466</eissn><abstract>Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.</abstract><cop>United States</cop><pub>American Physiological Society</pub><pmid>25834070</pmid><doi>10.1152/ajprenal.00410.2014</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Animals Call for Papers Chromosomes Gene Expression Regulation, Developmental - genetics Genes Hydronephrosis - etiology Hydronephrosis - genetics Kidney - abnormalities Kidney - metabolism Kidneys Mammals Mice, Inbred C57BL Mutation Mutation - genetics Organogenesis - genetics Organogenesis - physiology Rodents Transcription Factors - genetics Transcription Factors - metabolism Urogenital Abnormalities - metabolism |
| title | Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis |
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