Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
Identifieur interne : 000266 ( France/Analysis ); précédent : 000265; suivant : 000267Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
Auteurs : Ngoc Minh Phuong Nguyen [Canada] ; Li Zhang [Canada] ; Ramesh Reddy [Canada] ; Christine Déry [Canada] ; Jocelyne Arseneau [Canada] ; Annie Cheung [République populaire de Chine] ; Urvashi Surti [États-Unis] ; Lori Hoffner [États-Unis] ; Muhieddine Seoud [Liban] ; Ghazi Zaatari [Liban] ; Rashmi Bagga [Inde] ; Radhika Srinivasan [Inde] ; Philippe Coullin [France] ; Asangla Ao [Canada] ; Rima Slim [Canada]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2014.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Cytométrie en flux, Différenciation cellulaire (génétique), Différenciation cellulaire (physiologie), Empreinte génomique (génétique), Femelle, Grossesse, Génotype, Humains, Immunohistochimie, Inhibiteur p57 de kinase cycline-dépendante (génétique), Inhibiteur p57 de kinase cycline-dépendante (métabolisme), Mutation faux-sens (génétique), Môle hydatiforme (génétique), Prolifération cellulaire (génétique), Prolifération cellulaire (physiologie), Protéines adaptatrices de la transduction du signal (génétique), Régulation de l'expression des gènes au cours du développement (génétique), Répétitions microsatellites (génétique), Technique FISH, Trophoblastes (physiologie).
- MESH :
- génétique : Différenciation cellulaire, Empreinte génomique, Inhibiteur p57 de kinase cycline-dépendante, Mutation faux-sens, Môle hydatiforme, Prolifération cellulaire, Protéines adaptatrices de la transduction du signal, Régulation de l'expression des gènes au cours du développement, Répétitions microsatellites.
- métabolisme : Inhibiteur p57 de kinase cycline-dépendante.
- physiologie : Différenciation cellulaire, Prolifération cellulaire, Trophoblastes.
- Analyse de mutations d'ADN, Cytométrie en flux, Femelle, Grossesse, Génotype, Humains, Immunohistochimie, Technique FISH.
English descriptors
- KwdEn :
- Adaptor Proteins, Signal Transducing (genetics), Cell Differentiation (genetics), Cell Differentiation (physiology), Cell Proliferation (genetics), Cell Proliferation (physiology), Cyclin-Dependent Kinase Inhibitor p57 (genetics), Cyclin-Dependent Kinase Inhibitor p57 (metabolism), DNA Mutational Analysis, Female, Flow Cytometry, Gene Expression Regulation, Developmental (genetics), Genomic Imprinting (genetics), Genotype, Humans, Hydatidiform Mole (genetics), Immunohistochemistry, In Situ Hybridization, Fluorescence, Microsatellite Repeats (genetics), Mutation, Missense (genetics), Pregnancy, Trophoblasts (physiology).
- MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, Cyclin-Dependent Kinase Inhibitor p57.
- genetics : Cell Differentiation, Cell Proliferation, Gene Expression Regulation, Developmental, Genomic Imprinting, Hydatidiform Mole, Microsatellite Repeats, Mutation, Missense.
- chemical , metabolism : Cyclin-Dependent Kinase Inhibitor p57.
- physiology : Cell Differentiation, Cell Proliferation, Trophoblasts.
- DNA Mutational Analysis, Female, Flow Cytometry, Genotype, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Pregnancy.
Abstract
Hydatidiform mole (HM) is a human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development that may be sporadic or recurrent. In the sporadic form, the HM phenotype is driven by an abnormal ratio of paternal to maternal genomes, whereas in the recurrent form, the HM phenotype is caused by maternal-recessive mutations, mostly in NLRP7, despite the diploid biparental origin of the HM tissues. In this study, we characterised the expression of the imprinted, maternally expressed gene, CDKN1C (p57(KIP2)), the genotype, and the histopathology of 36 products of conception (POC) from patients with two defective alleles in NLRP7 and looked for potential correlations between the nature of the mutations in the patients and the various HM features.
DOI: 10.1136/jmedgenet-2014-102546
PubMed: 25097207
Affiliations:
- Canada, France, Inde, Liban, République populaire de Chine, États-Unis
- Pennsylvanie
- Pittsburgh
- Université de Pittsburgh
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pubmed:25097207Le document en format XML
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Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Li" sort="Zhang, Li" uniqKey="Zhang L" first="Li" last="Zhang">Li Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Reddy, Ramesh" sort="Reddy, Ramesh" uniqKey="Reddy R" first="Ramesh" last="Reddy">Ramesh Reddy</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Dery, Christine" sort="Dery, Christine" uniqKey="Dery C" first="Christine" last="Déry">Christine Déry</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Arseneau, Jocelyne" sort="Arseneau, Jocelyne" uniqKey="Arseneau J" first="Jocelyne" last="Arseneau">Jocelyne Arseneau</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Cheung, Annie" sort="Cheung, Annie" uniqKey="Cheung A" first="Annie" last="Cheung">Annie Cheung</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, University of Hong Kong, Queen Mary Hospital, Hong Kong, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pathology, University of Hong Kong, Queen Mary Hospital, Hong Kong</wicri:regionArea><wicri:noRegion>Hong Kong</wicri:noRegion></affiliation></author><author><name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology, University of Pittsburgh, Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Pittsburgh, Magee-Womens Hospital, Pittsburgh, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Hoffner, Lori" sort="Hoffner, Lori" uniqKey="Hoffner L" first="Lori" last="Hoffner">Lori Hoffner</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pathology, University of Pittsburgh, Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Pittsburgh, Magee-Womens Hospital, Pittsburgh, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Seoud, Muhieddine" sort="Seoud, Muhieddine" uniqKey="Seoud M" first="Muhieddine" last="Seoud">Muhieddine Seoud</name><affiliation wicri:level="1"><nlm:affiliation>Department of Obstetrics and Gynecology, American University of Beirut, Beirut, Lebanon.</nlm:affiliation><country xml:lang="fr">Liban</country><wicri:regionArea>Department of Obstetrics and Gynecology, American University of Beirut, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Zaatari, Ghazi" sort="Zaatari, Ghazi" uniqKey="Zaatari G" first="Ghazi" last="Zaatari">Ghazi Zaatari</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, American University of Beirut, Beirut, Lebanon.</nlm:affiliation><country xml:lang="fr">Liban</country><wicri:regionArea>Department of Pathology, American University of Beirut, Beirut</wicri:regionArea><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Bagga, Rashmi" sort="Bagga, Rashmi" uniqKey="Bagga R" first="Rashmi" last="Bagga">Rashmi Bagga</name><affiliation wicri:level="1"><nlm:affiliation>Department of Obstetrics & Gynecology, Post Graduate Institute of Medical Education and Research, PGIMER, Chandigarh, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Obstetrics & Gynecology, Post Graduate Institute of Medical Education and Research, PGIMER, Chandigarh</wicri:regionArea><wicri:noRegion>Chandigarh</wicri:noRegion></affiliation></author><author><name sortKey="Srinivasan, Radhika" sort="Srinivasan, Radhika" uniqKey="Srinivasan R" first="Radhika" last="Srinivasan">Radhika Srinivasan</name><affiliation wicri:level="1"><nlm:affiliation>Cytology & Gynecological Pathology, Post Graduate Institute of Medical Education and Research, PGIMER, Chandigarh, India.</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>Cytology & Gynecological Pathology, Post Graduate Institute of Medical Education and Research, PGIMER, Chandigarh</wicri:regionArea><wicri:noRegion>Chandigarh</wicri:noRegion></affiliation></author><author><name sortKey="Coullin, Philippe" sort="Coullin, Philippe" uniqKey="Coullin P" first="Philippe" last="Coullin">Philippe Coullin</name><affiliation wicri:level="1"><nlm:affiliation>INSERM U782, Endocrinologie et Génétique de la Reproduction et du Développement, Clamart, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U782, Endocrinologie et Génétique de la Reproduction et du Développement, Clamart</wicri:regionArea><wicri:noRegion>Clamart</wicri:noRegion><wicri:noRegion>Clamart</wicri:noRegion></affiliation></author><author><name sortKey="Ao, Asangla" sort="Ao, Asangla" uniqKey="Ao A" first="Asangla" last="Ao">Asangla Ao</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Slim, Rima" sort="Slim, Rima" uniqKey="Slim R" first="Rima" last="Slim">Rima Slim</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada Department of Obstetrics and Gynecology, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (genetics)</term><term>Cell Differentiation (genetics)</term><term>Cell Differentiation (physiology)</term><term>Cell Proliferation (genetics)</term><term>Cell Proliferation (physiology)</term><term>Cyclin-Dependent Kinase Inhibitor p57 (genetics)</term><term>Cyclin-Dependent Kinase Inhibitor p57 (metabolism)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Flow Cytometry</term><term>Gene Expression Regulation, Developmental (genetics)</term><term>Genomic Imprinting (genetics)</term><term>Genotype</term><term>Humans</term><term>Hydatidiform Mole (genetics)</term><term>Immunohistochemistry</term><term>In Situ Hybridization, Fluorescence</term><term>Microsatellite Repeats (genetics)</term><term>Mutation, Missense (genetics)</term><term>Pregnancy</term><term>Trophoblasts (physiology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Cytométrie en flux</term><term>Différenciation cellulaire (génétique)</term><term>Différenciation cellulaire (physiologie)</term><term>Empreinte génomique (génétique)</term><term>Femelle</term><term>Grossesse</term><term>Génotype</term><term>Humains</term><term>Immunohistochimie</term><term>Inhibiteur p57 de kinase cycline-dépendante (génétique)</term><term>Inhibiteur p57 de kinase cycline-dépendante (métabolisme)</term><term>Mutation faux-sens (génétique)</term><term>Môle hydatiforme (génétique)</term><term>Prolifération cellulaire (génétique)</term><term>Prolifération cellulaire (physiologie)</term><term>Protéines adaptatrices de la transduction du signal (génétique)</term><term>Régulation de l'expression des gènes au cours du développement (génétique)</term><term>Répétitions microsatellites (génétique)</term><term>Technique FISH</term><term>Trophoblastes (physiologie)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>Cyclin-Dependent Kinase Inhibitor p57</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Differentiation</term><term>Cell Proliferation</term><term>Gene Expression Regulation, Developmental</term><term>Genomic Imprinting</term><term>Hydatidiform Mole</term><term>Microsatellite Repeats</term><term>Mutation, Missense</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Différenciation cellulaire</term><term>Empreinte génomique</term><term>Inhibiteur p57 de kinase cycline-dépendante</term><term>Mutation faux-sens</term><term>Môle hydatiforme</term><term>Prolifération cellulaire</term><term>Protéines adaptatrices de la transduction du signal</term><term>Régulation de l'expression des gènes au cours du développement</term><term>Répétitions microsatellites</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Cyclin-Dependent Kinase Inhibitor p57</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Inhibiteur p57 de kinase cycline-dépendante</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Différenciation cellulaire</term><term>Prolifération cellulaire</term><term>Trophoblastes</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Cell Differentiation</term><term>Cell Proliferation</term><term>Trophoblasts</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Female</term><term>Flow Cytometry</term><term>Genotype</term><term>Humans</term><term>Immunohistochemistry</term><term>In Situ Hybridization, Fluorescence</term><term>Pregnancy</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Cytométrie en flux</term><term>Femelle</term><term>Grossesse</term><term>Génotype</term><term>Humains</term><term>Immunohistochimie</term><term>Technique FISH</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hydatidiform mole (HM) is a human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development that may be sporadic or recurrent. In the sporadic form, the HM phenotype is driven by an abnormal ratio of paternal to maternal genomes, whereas in the recurrent form, the HM phenotype is caused by maternal-recessive mutations, mostly in NLRP7, despite the diploid biparental origin of the HM tissues. In this study, we characterised the expression of the imprinted, maternally expressed gene, CDKN1C (p57(KIP2)), the genotype, and the histopathology of 36 products of conception (POC) from patients with two defective alleles in NLRP7 and looked for potential correlations between the nature of the mutations in the patients and the various HM features.</div></front></TEI><affiliations><list><country><li>Canada</li><li>France</li><li>Inde</li><li>Liban</li><li>République populaire de Chine</li><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Pittsburgh</li></settlement><orgName><li>Université de Pittsburgh</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Nguyen, Ngoc Minh Phuong" sort="Nguyen, Ngoc Minh Phuong" uniqKey="Nguyen N" first="Ngoc Minh Phuong" last="Nguyen">Ngoc Minh Phuong Nguyen</name></noRegion><name sortKey="Ao, Asangla" sort="Ao, Asangla" uniqKey="Ao A" first="Asangla" last="Ao">Asangla Ao</name><name sortKey="Arseneau, Jocelyne" sort="Arseneau, Jocelyne" uniqKey="Arseneau J" first="Jocelyne" last="Arseneau">Jocelyne Arseneau</name><name sortKey="Dery, Christine" sort="Dery, Christine" uniqKey="Dery C" first="Christine" last="Déry">Christine Déry</name><name sortKey="Reddy, Ramesh" sort="Reddy, Ramesh" uniqKey="Reddy R" first="Ramesh" last="Reddy">Ramesh Reddy</name><name sortKey="Slim, Rima" sort="Slim, Rima" uniqKey="Slim R" first="Rima" last="Slim">Rima Slim</name><name sortKey="Zhang, Li" sort="Zhang, Li" uniqKey="Zhang L" first="Li" last="Zhang">Li Zhang</name></country><country name="République populaire de Chine"><noRegion><name sortKey="Cheung, Annie" sort="Cheung, Annie" uniqKey="Cheung A" first="Annie" last="Cheung">Annie Cheung</name></noRegion></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Surti, Urvashi" sort="Surti, Urvashi" uniqKey="Surti U" first="Urvashi" last="Surti">Urvashi Surti</name></region><name sortKey="Hoffner, Lori" sort="Hoffner, Lori" uniqKey="Hoffner L" first="Lori" last="Hoffner">Lori Hoffner</name></country><country name="Liban"><noRegion><name sortKey="Seoud, Muhieddine" sort="Seoud, Muhieddine" uniqKey="Seoud M" first="Muhieddine" last="Seoud">Muhieddine Seoud</name></noRegion><name sortKey="Zaatari, Ghazi" sort="Zaatari, Ghazi" uniqKey="Zaatari G" first="Ghazi" last="Zaatari">Ghazi Zaatari</name></country><country name="Inde"><noRegion><name sortKey="Bagga, Rashmi" sort="Bagga, Rashmi" uniqKey="Bagga R" first="Rashmi" last="Bagga">Rashmi Bagga</name></noRegion><name sortKey="Srinivasan, Radhika" sort="Srinivasan, Radhika" uniqKey="Srinivasan R" first="Radhika" last="Srinivasan">Radhika Srinivasan</name></country><country name="France"><noRegion><name sortKey="Coullin, Philippe" sort="Coullin, Philippe" uniqKey="Coullin P" first="Philippe" last="Coullin">Philippe Coullin</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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