LymphedemaV1, PascalFrancis, Curation, bibRecord, 000477

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Identifieur interne : 000477 ( PascalFrancis/Curation ); précédent : 000476; suivant : 000478

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Auteurs : Russell H. Mellor [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Anthony W. B. Stanton [Royaume-Uni] ; Jane French [Royaume-Uni] ; Alberto Smith [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; J. Rodney Levick [Royaume-Uni] ; Kevin G. Burnand [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni]

Source :

Circulation : (New York, N.Y.) [ 0009-7322 ] ; 2007.

RBID : Pascal:07-0207378

Descripteurs français

Pascal (Inist)
- Appareil circulatoire pathologie, Lymphoedème, Mutation, Valvule veine, Membre inférieur, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Cardiovascular disease, Human, Lower limb, Lymphedema, Mutation, Vein valve.

Abstract

Background-Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary lymphedema in which a significant number of patients have varicose veins. Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. Methods and Results-The venous system of the leg was investigated with Duplex ultrasound. Pathological reflux was recorded by color Duplex ultrasound in all 18 participants with a FOXC2 mutation, including 3 without lymphedema. Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein (n=18), compared with only 1 of 12 referents (including 10 family members; P<0.0001, Fisher exact test). Deep vein reflux was recorded in 14 of 18 participants. Conclusions-FOXC2 is the first gene in which mutations have been strongly associated with primary venous valve failure in both the superficial and deep veins in the lower limb. This gene appears to be important for the normal development and maintenance of venous and lymphatic valves.

A01	`01`	`1`		`@0 0009-7322`
A02	`01`			`@0 CIRCAZ`
A03		`1`		`@0 Circulation : (N. Y. N.Y.)`
A05				`@2 115`
A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb`
A11	`01`	`1`		`@1 MELLOR (Russell H.)`
A11	`02`	`1`		`@1 BRICE (Glen)`
A11	`03`	`1`		`@1 STANTON (Anthony W. B.)`
A11	`04`	`1`		`@1 FRENCH (Jane)`
A11	`05`	`1`		`@1 SMITH (Alberto)`
A11	`06`	`1`		`@1 JEFFERY (Steve)`
A11	`07`	`1`		`@1 LEVICK (J. Rodney)`
A11	`08`	`1`		`@1 BURNAND (Kevin G.)`
A11	`09`	`1`		`@1 MORTIMER (Peter S.)`
A14	`01`			`@1 Cardiac & Vascular Sciences (Dermatology), St George's, University of London @2 London @3 GBR @Z 1 aut. @Z 3 aut. @Z 9 aut.`
A14	`02`			`@1 Clinical Genetics, St George's, University of London @2 London @3 GBR @Z 2 aut.`
A14	`03`			`@1 Vascular Laboratory, St George's Hospital @2 London @3 GBR @Z 4 aut.`
A14	`04`			`@1 Department of Academic Surgery, St Thomas' Hospital @2 London @3 GBR @Z 5 aut. @Z 8 aut.`
A14	`05`			`@1 Clinical Developmental Sciences, St George's, University of London @2 London @3 GBR @Z 6 aut.`
A14	`06`			`@1 Physiology, St George's, University of London @2 London @3 GBR @Z 7 aut.`
A20				`@1 1912-1920`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 5907 @5 354000143507070120`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 36 ref.`
A47	`01`	`1`		`@0 07-0207378`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Circulation : (New York, N.Y.)`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Background-Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary lymphedema in which a significant number of patients have varicose veins. Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. Methods and Results-The venous system of the leg was investigated with Duplex ultrasound. Pathological reflux was recorded by color Duplex ultrasound in all 18 participants with a FOXC2 mutation, including 3 without lymphedema. Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein (n=18), compared with only 1 of 12 referents (including 10 family members; P<0.0001, Fisher exact test). Deep vein reflux was recorded in 14 of 18 participants. Conclusions-FOXC2 is the first gene in which mutations have been strongly associated with primary venous valve failure in both the superficial and deep veins in the lower limb. This gene appears to be important for the normal development and maintenance of venous and lymphatic valves.
C02	`01`	`X`		`@0 002B12B03`
C02	`02`	`X`		`@0 002B25F`
C02	`03`	`X`		`@0 002B05B02C`
C03	`01`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 01`
C03	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Lymphoedème @5 02`
C03	`02`	`X`	`ENG`	`@0 Lymphedema @5 02`
C03	`02`	`X`	`SPA`	`@0 Linfedema @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Valvule veine @5 10`
C03	`04`	`X`	`ENG`	`@0 Vein valve @5 10`
C03	`04`	`X`	`SPA`	`@0 Válvula vena @5 10`
C03	`05`	`X`	`FRE`	`@0 Membre inférieur @5 11`
C03	`05`	`X`	`ENG`	`@0 Lower limb @5 11`
C03	`05`	`X`	`SPA`	`@0 Miembro inferior @5 11`
C03	`06`	`X`	`FRE`	`@0 Homme @5 12`
C03	`06`	`X`	`ENG`	`@0 Human @5 12`
C03	`06`	`X`	`SPA`	`@0 Hombre @5 12`
C07	`01`	`X`	`FRE`	`@0 Lymphatique pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Linfático patología @5 37`
N21				`@1 141`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000483

Links to Exploration step

Pascal:07-0207378

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb</title>
<author><name sortKey="Mellor, Russell H" sort="Mellor, Russell H" uniqKey="Mellor R" first="Russell H." last="Mellor">Russell H. Mellor</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clinical Genetics, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Stanton, Anthony W B" sort="Stanton, Anthony W B" uniqKey="Stanton A" first="Anthony W. B." last="Stanton">Anthony W. B. Stanton</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="French, Jane" sort="French, Jane" uniqKey="French J" first="Jane" last="French">Jane French</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Vascular Laboratory, St George's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Clinical Developmental Sciences, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J. Rodney" last="Levick">J. Rodney Levick</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Physiology, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G." last="Burnand">Kevin G. Burnand</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">07-0207378</idno>
<date when="2007">2007</date>
<idno type="stanalyst">PASCAL 07-0207378 INIST</idno>
<idno type="RBID">Pascal:07-0207378</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000483</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000477</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb</title>
<author><name sortKey="Mellor, Russell H" sort="Mellor, Russell H" uniqKey="Mellor R" first="Russell H." last="Mellor">Russell H. Mellor</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Clinical Genetics, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Stanton, Anthony W B" sort="Stanton, Anthony W B" uniqKey="Stanton A" first="Anthony W. B." last="Stanton">Anthony W. B. Stanton</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="French, Jane" sort="French, Jane" uniqKey="French J" first="Jane" last="French">Jane French</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Vascular Laboratory, St George's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Clinical Developmental Sciences, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J. Rodney" last="Levick">J. Rodney Levick</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Physiology, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G." last="Burnand">Kevin G. Burnand</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Circulation : (New York, N.Y.)</title>
<title level="j" type="abbreviated">Circulation : (N. Y. N.Y.)</title>
<idno type="ISSN">0009-7322</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Circulation : (New York, N.Y.)</title>
<title level="j" type="abbreviated">Circulation : (N. Y. N.Y.)</title>
<idno type="ISSN">0009-7322</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cardiovascular disease</term>
<term>Human</term>
<term>Lower limb</term>
<term>Lymphedema</term>
<term>Mutation</term>
<term>Vein valve</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Appareil circulatoire pathologie</term>
<term>Lymphoedème</term>
<term>Mutation</term>
<term>Valvule veine</term>
<term>Membre inférieur</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background-Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary lymphedema in which a significant number of patients have varicose veins. Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. Methods and Results-The venous system of the leg was investigated with Duplex ultrasound. Pathological reflux was recorded by color Duplex ultrasound in all 18 participants with a FOXC2 mutation, including 3 without lymphedema. Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein (n=18), compared with only 1 of 12 referents (including 10 family members; P<0.0001, Fisher exact test). Deep vein reflux was recorded in 14 of 18 participants. Conclusions-FOXC2 is the first gene in which mutations have been strongly associated with primary venous valve failure in both the superficial and deep veins in the lower limb. This gene appears to be important for the normal development and maintenance of venous and lymphatic valves.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0009-7322</s0>
</fA01>
<fA02 i1="01"><s0>CIRCAZ</s0>
</fA02>
<fA03 i2="1"><s0>Circulation : (N. Y. N.Y.)</s0>
</fA03>
<fA05><s2>115</s2>
</fA05>
<fA06><s2>14</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>MELLOR (Russell H.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>BRICE (Glen)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>STANTON (Anthony W. B.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>FRENCH (Jane)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>SMITH (Alberto)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>JEFFERY (Steve)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>LEVICK (J. Rodney)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BURNAND (Kevin G.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>MORTIMER (Peter S.)</s1>
</fA11>
<fA14 i1="01"><s1>Cardiac & Vascular Sciences (Dermatology), St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Clinical Genetics, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Vascular Laboratory, St George's Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Academic Surgery, St Thomas' Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Clinical Developmental Sciences, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Physiology, St George's, University of London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA20><s1>1912-1920</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>5907</s2>
<s5>354000143507070120</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>36 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0207378</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Circulation : (New York, N.Y.)</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Background-Mutations in the FOXC2 gene cause lymphedema distichiasis, an inherited primary lymphedema in which a significant number of patients have varicose veins. Because lymphedema distichiasis is believed to be caused by lymphatic valve failure (reflux), and FOXC2 is highly expressed on venous valves in mouse embryos, we tested the hypothesis that FOXC2 mutations may be linked to venous valve failure and reflux. Methods and Results-The venous system of the leg was investigated with Duplex ultrasound. Pathological reflux was recorded by color Duplex ultrasound in all 18 participants with a FOXC2 mutation, including 3 without lymphedema. Every participant with a mutation in FOXC2 showed reflux in the great saphenous vein (n=18), compared with only 1 of 12 referents (including 10 family members; P<0.0001, Fisher exact test). Deep vein reflux was recorded in 14 of 18 participants. Conclusions-FOXC2 is the first gene in which mutations have been strongly associated with primary venous valve failure in both the superficial and deep veins in the lower limb. This gene appears to be important for the normal development and maintenance of venous and lymphatic valves.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B12B03</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B25F</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B05B02C</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Valvule veine</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Vein valve</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Válvula vena</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Membre inférieur</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Lower limb</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Miembro inferior</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Human</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>37</s5>
</fC07>
<fN21><s1>141</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PascalFrancis/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000477 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 000477 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:07-0207378
   |texte=   Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur le lymphœdème

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri