LymphedemaV1, PascalFrancis, Curation, bibRecord, 000395

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

Identifieur interne : 000395 ( PascalFrancis/Curation ); précédent : 000394; suivant : 000396

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

Auteurs : Fred B. Berry [Canada] ; Yahya Tamimi [Canada] ; Michelle V. Carte [Canada] ; Ordan J. Lehmann [Canada] ; Michael A. Walter [Canada]

Source :

Human molecular genetics : (Print) [ 0964-6906 ] ; 2005.

RBID : Pascal:05-0437319

Descripteurs français

Pascal (Inist)
- Mutation faux sens, Modèle, Analyse, Malade, Homme, Héréditaire, Génétique, Lymphoedème, Distichiasis, Domaine forkhead.
Wicri :
- topic : Homme, Génétique.

English descriptors

KwdEn :
- Analysis, Distichiasis, Genetics, Hereditary, Human, Lymphedema, Missense mutation, Models, Patient.

Abstract

The FOX family of transcription factor genes is an evolutionary conserved, yet functionally diverse class of transcription factors that are important for regulation of energy homeostasis, development and oncogenesis. The proteins encoded by FOX genes are characterized by a conserved DNA-binding domain known as the forkhead domain (FHD). To date, disease-causing mutations have been identified in eight human FOX genes. Many of these mutations result in single amino acid substitutions in the FHD. We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model. On the basis of the FOXC2 solution structure, both FOXC2 missense mutations are located on the DNA-recognition helix of the FHD. A mutation model based on the parologous FOXC1 protein predicts that these FOXC2 missense mutations will impair the DNA-binding and transcriptional activation ability of the FOXC2 protein. When these mutations were analyzed biochemically, we found that both mutations did indeed reduce the DNA binding and transcriptional capacity. In addition, the R121H mutation affected nuclear localization of FOXC2. Together, these data indicate that these FOXC2 missense mutations are functional nulls and that FOXC2 haploinsufficiency underlies hereditary LD and validates the predictive ability of the FOXC1-based FHD mutational model.

A01	`01`	`1`		`@0 0964-6906`
A03		`1`		`@0 Hum. mol. genet. : (Print)`
A05				`@2 14`
A06				`@2 18`
A08	`01`	`1`	`ENG`	`@1 The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis`
A11	`01`	`1`		`@1 BERRY (Fred B.)`
A11	`02`	`1`		`@1 TAMIMI (Yahya)`
A11	`03`	`1`		`@1 CARTE (Michelle V.)`
A11	`04`	`1`		`@1 LEHMANN (Ordan J.)`
A11	`05`	`1`		`@1 WALTER (Michael A.)`
A14	`01`			`@1 Department of Ophthalmology, University of Alberta @2 Edmonton, Alberta, T6G 2H7 @3 CAN @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 Department of Medical Genetics, University of Alberta @2 Edmonton, Alberta, T6G 2H7 @3 CAN @Z 2 aut. @Z 4 aut. @Z 5 aut.`
A20				`@1 2619-2627`
A21				`@1 2005`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 22540 @5 354000131854680020`
A44				`@0 0000 @1 © 2005 INIST-CNRS. All rights reserved.`
A45				`@0 43 ref.`
A47	`01`	`1`		`@0 05-0437319`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Human molecular genetics : (Print)`
A66	`01`			`@0 GBR`
C01	`01`		`ENG`	@0 The FOX family of transcription factor genes is an evolutionary conserved, yet functionally diverse class of transcription factors that are important for regulation of energy homeostasis, development and oncogenesis. The proteins encoded by FOX genes are characterized by a conserved DNA-binding domain known as the forkhead domain (FHD). To date, disease-causing mutations have been identified in eight human FOX genes. Many of these mutations result in single amino acid substitutions in the FHD. We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model. On the basis of the FOXC2 solution structure, both FOXC2 missense mutations are located on the DNA-recognition helix of the FHD. A mutation model based on the parologous FOXC1 protein predicts that these FOXC2 missense mutations will impair the DNA-binding and transcriptional activation ability of the FOXC2 protein. When these mutations were analyzed biochemically, we found that both mutations did indeed reduce the DNA binding and transcriptional capacity. In addition, the R121H mutation affected nuclear localization of FOXC2. Together, these data indicate that these FOXC2 missense mutations are functional nulls and that FOXC2 haploinsufficiency underlies hereditary LD and validates the predictive ability of the FOXC1-based FHD mutational model.
C02	`01`	`X`		`@0 002A04`
C02	`02`	`X`		`@0 002A07`
C02	`03`	`X`		`@0 002B12B04`
C03	`01`	`X`	`FRE`	`@0 Mutation faux sens @5 01`
C03	`01`	`X`	`ENG`	`@0 Missense mutation @5 01`
C03	`01`	`X`	`SPA`	`@0 Mutación falso sentido @5 01`
C03	`02`	`X`	`FRE`	`@0 Modèle @5 02`
C03	`02`	`X`	`ENG`	`@0 Models @5 02`
C03	`02`	`X`	`SPA`	`@0 Modelo @5 02`
C03	`03`	`X`	`FRE`	`@0 Analyse @5 03`
C03	`03`	`X`	`ENG`	`@0 Analysis @5 03`
C03	`03`	`X`	`SPA`	`@0 Análisis @5 03`
C03	`04`	`X`	`FRE`	`@0 Malade @5 04`
C03	`04`	`X`	`ENG`	`@0 Patient @5 04`
C03	`04`	`X`	`SPA`	`@0 Enfermo @5 04`
C03	`05`	`X`	`FRE`	`@0 Homme @5 05`
C03	`05`	`X`	`ENG`	`@0 Human @5 05`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 05`
C03	`06`	`X`	`FRE`	`@0 Héréditaire @5 06`
C03	`06`	`X`	`ENG`	`@0 Hereditary @5 06`
C03	`06`	`X`	`SPA`	`@0 Hereditario @5 06`
C03	`07`	`X`	`FRE`	`@0 Génétique @5 07`
C03	`07`	`X`	`ENG`	`@0 Genetics @5 07`
C03	`07`	`X`	`SPA`	`@0 Genética @5 07`
C03	`08`	`X`	`FRE`	`@0 Lymphoedème @5 14`
C03	`08`	`X`	`ENG`	`@0 Lymphedema @5 14`
C03	`08`	`X`	`SPA`	`@0 Linfedema @5 14`
C03	`09`	`X`	`FRE`	`@0 Distichiasis @5 15`
C03	`09`	`X`	`ENG`	`@0 Distichiasis @5 15`
C03	`09`	`X`	`SPA`	`@0 Distiquiasis @5 15`
C03	`10`	`X`	`FRE`	`@0 Domaine forkhead @4 INC @5 88`
C07	`01`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 19`
C07	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 19`
C07	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 19`
C07	`02`	`X`	`FRE`	`@0 Lymphatique pathologie @5 20`
C07	`02`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 20`
C07	`02`	`X`	`SPA`	`@0 Linfático patología @5 20`
C07	`03`	`X`	`FRE`	`@0 Maladie héréditaire @5 21`
C07	`03`	`X`	`ENG`	`@0 Genetic disease @5 21`
C07	`03`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 21`
C07	`04`	`X`	`FRE`	`@0 Oeil pathologie @5 22`
C07	`04`	`X`	`ENG`	`@0 Eye disease @5 22`
C07	`04`	`X`	`SPA`	`@0 Ojo patología @5 22`
C07	`05`	`X`	`FRE`	`@0 Paupière pathologie @5 23`
C07	`05`	`X`	`ENG`	`@0 Eyelid disease @5 23`
C07	`05`	`X`	`SPA`	`@0 Párpado patología @5 23`
N21				`@1 305`
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 :000565

Links to Exploration step

Pascal:05-0437319

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis</title>
<author><name sortKey="Berry, Fred B" sort="Berry, Fred B" uniqKey="Berry F" first="Fred B." last="Berry">Fred B. Berry</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Tamimi, Yahya" sort="Tamimi, Yahya" uniqKey="Tamimi Y" first="Yahya" last="Tamimi">Yahya Tamimi</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Carte, Michelle V" sort="Carte, Michelle V" uniqKey="Carte M" first="Michelle V." last="Carte">Michelle V. Carte</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Lehmann, Ordan J" sort="Lehmann, Ordan J" uniqKey="Lehmann O" first="Ordan J." last="Lehmann">Ordan J. Lehmann</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Walter, Michael A" sort="Walter, Michael A" uniqKey="Walter M" first="Michael A." last="Walter">Michael A. Walter</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">05-0437319</idno>
<date when="2005">2005</date>
<idno type="stanalyst">PASCAL 05-0437319 INIST</idno>
<idno type="RBID">Pascal:05-0437319</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000565</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000395</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis</title>
<author><name sortKey="Berry, Fred B" sort="Berry, Fred B" uniqKey="Berry F" first="Fred B." last="Berry">Fred B. Berry</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Tamimi, Yahya" sort="Tamimi, Yahya" uniqKey="Tamimi Y" first="Yahya" last="Tamimi">Yahya Tamimi</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Carte, Michelle V" sort="Carte, Michelle V" uniqKey="Carte M" first="Michelle V." last="Carte">Michelle V. Carte</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Lehmann, Ordan J" sort="Lehmann, Ordan J" uniqKey="Lehmann O" first="Ordan J." last="Lehmann">Ordan J. Lehmann</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Walter, Michael A" sort="Walter, Michael A" uniqKey="Walter M" first="Michael A." last="Walter">Michael A. Walter</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Human molecular genetics : (Print)</title>
<title level="j" type="abbreviated">Hum. mol. genet. : (Print)</title>
<idno type="ISSN">0964-6906</idno>
<imprint><date when="2005">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Human molecular genetics : (Print)</title>
<title level="j" type="abbreviated">Hum. mol. genet. : (Print)</title>
<idno type="ISSN">0964-6906</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Analysis</term>
<term>Distichiasis</term>
<term>Genetics</term>
<term>Hereditary</term>
<term>Human</term>
<term>Lymphedema</term>
<term>Missense mutation</term>
<term>Models</term>
<term>Patient</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation faux sens</term>
<term>Modèle</term>
<term>Analyse</term>
<term>Malade</term>
<term>Homme</term>
<term>Héréditaire</term>
<term>Génétique</term>
<term>Lymphoedème</term>
<term>Distichiasis</term>
<term>Domaine forkhead</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
<term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The FOX family of transcription factor genes is an evolutionary conserved, yet functionally diverse class of transcription factors that are important for regulation of energy homeostasis, development and oncogenesis. The proteins encoded by FOX genes are characterized by a conserved DNA-binding domain known as the forkhead domain (FHD). To date, disease-causing mutations have been identified in eight human FOX genes. Many of these mutations result in single amino acid substitutions in the FHD. We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model. On the basis of the FOXC2 solution structure, both FOXC2 missense mutations are located on the DNA-recognition helix of the FHD. A mutation model based on the parologous FOXC1 protein predicts that these FOXC2 missense mutations will impair the DNA-binding and transcriptional activation ability of the FOXC2 protein. When these mutations were analyzed biochemically, we found that both mutations did indeed reduce the DNA binding and transcriptional capacity. In addition, the R121H mutation affected nuclear localization of FOXC2. Together, these data indicate that these FOXC2 missense mutations are functional nulls and that FOXC2 haploinsufficiency underlies hereditary LD and validates the predictive ability of the FOXC1-based FHD mutational model.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0964-6906</s0>
</fA01>
<fA03 i2="1"><s0>Hum. mol. genet. : (Print)</s0>
</fA03>
<fA05><s2>14</s2>
</fA05>
<fA06><s2>18</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>BERRY (Fred B.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>TAMIMI (Yahya)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>CARTE (Michelle V.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>LEHMANN (Ordan J.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>WALTER (Michael A.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Ophthalmology, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Medical Genetics, University of Alberta</s1>
<s2>Edmonton, Alberta, T6G 2H7</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA20><s1>2619-2627</s1>
</fA20>
<fA21><s1>2005</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>22540</s2>
<s5>354000131854680020</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2005 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>43 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>05-0437319</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Human molecular genetics : (Print)</s0>
</fA64>
<fA66 i1="01"><s0>GBR</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>The FOX family of transcription factor genes is an evolutionary conserved, yet functionally diverse class of transcription factors that are important for regulation of energy homeostasis, development and oncogenesis. The proteins encoded by FOX genes are characterized by a conserved DNA-binding domain known as the forkhead domain (FHD). To date, disease-causing mutations have been identified in eight human FOX genes. Many of these mutations result in single amino acid substitutions in the FHD. We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model. On the basis of the FOXC2 solution structure, both FOXC2 missense mutations are located on the DNA-recognition helix of the FHD. A mutation model based on the parologous FOXC1 protein predicts that these FOXC2 missense mutations will impair the DNA-binding and transcriptional activation ability of the FOXC2 protein. When these mutations were analyzed biochemically, we found that both mutations did indeed reduce the DNA binding and transcriptional capacity. In addition, the R121H mutation affected nuclear localization of FOXC2. Together, these data indicate that these FOXC2 missense mutations are functional nulls and that FOXC2 haploinsufficiency underlies hereditary LD and validates the predictive ability of the FOXC1-based FHD mutational model.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002A04</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002A07</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B12B04</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Mutation faux sens</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Missense mutation</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Mutación falso sentido</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Modèle</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Models</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Modelo</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Analyse</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Analysis</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Análisis</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Malade</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Patient</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Enfermo</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Human</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Héréditaire</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Hereditary</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hereditario</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Génétique</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Genetics</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Genética</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>14</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Distichiasis</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Distichiasis</s0>
<s5>15</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Distiquiasis</s0>
<s5>15</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Domaine forkhead</s0>
<s4>INC</s4>
<s5>88</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>19</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>19</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>19</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>20</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>20</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>20</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>21</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>21</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>21</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>22</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>22</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>22</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Paupière pathologie</s0>
<s5>23</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Eyelid disease</s0>
<s5>23</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Párpado patología</s0>
<s5>23</s5>
</fC07>
<fN21><s1>305</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 000395 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 000395 | 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:05-0437319
   |texte=   The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis
}}

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

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

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