المؤلفون: Geoffrey E. Pollott, Richard J. Piercy, Claire Massey, Mazdak Salavati, Zhangrui Cheng, D. Claire Wathes

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: cattle, glucokinase gene, recessive genetics, runs of homozigosity, WGS, Irish Moiled, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.755693/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c28177842aad49b296404b71e44f6eed

المؤلفون: O'Connor, Mark J, Schroeder, Philip, Huerta-Chagoya, Alicia, Cortés-Sánchez, Paula, Bonàs-Guarch, Silvía, Guindo-Martínez, Marta, Cole, Joanne B, Kaur, Varinderpal, Torrents, David, Veerapen, Kumar, Grarup, Niels, Kurki, Mitja, Rundsten, Carsten F, Pedersen, Oluf, Brandslund, Ivan, Linneberg, Allan, Hansen, Torben, Leong, Aaron, Florez, Jose C, Mercader, Josep M

المصدر: O'Connor , M J , Schroeder , P , Huerta-Chagoya , A , Cortés-Sánchez , P , Bonàs-Guarch , S , Guindo-Martínez , M , Cole , J B , Kaur , V , Torrents , D , Veerapen , K , Grarup , N , Kurki , M , Rundsten , C F , Pedersen , O , Brandslund , I , Linneberg , A , Hansen , T , Leong , A , Florez , J C & Mercader , J M 2022 , ' Recessive Genome-wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes ' , ....

مصطلحات موضوعية: Adult, Cholesterol, LDL/blood, Diabetes Mellitus, Type 2/genetics, Europe/ethnology, Female, Gene Frequency, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Homozygote, Humans, Male, Metabolome/genetics, Middle Aged, Mutation, Sex Factors, Triglycerides/blood

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/828dd316-3d73-43bd-ad39-c4d38447ca63
https://doi.org/10.2337/db21-0545
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893948/pdf/db210545.pdf

المؤلفون: Liebau, Max Christoph

المصدر: http://lobid.org/resources/99370671682606441#!, 36(11):3561-3570.

مصطلحات موضوعية: Polycystic Kidney, Autosomal Recessive/therapy [MeSH], Autosomal Recessive/genetics [MeSH], Humans [MeSH], Ciliopathies, Fibrocystin, Polycystic kidney disease, Perinatal kidney disease, Child [MeSH], Educational Review, Congenital hepatic fibrosis

Relation: https://repository.publisso.de/resource/frl:6449744; https://doi.org/10.1007/s00467-021-04970-8; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497312/

الاتاحة: https://repository.publisso.de/resource/frl:6449744
https://doi.org/10.1007/s00467-021-04970-8
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497312/

المساهمون: College of Medicine, Dept. of Pharmacology, Hao Lu, Maria C. Rond처n Galeano, Elisabeth Ott, Geraldine Kaeslin, P. Jaya Kausalya, Carina Kramer, Nadina Ortiz-Br체chle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D. Courtney, Belinda Whittle, Elke W체hl, Udo Vester, Bj철rn Hartleben, Steffen Neuber, Valeska Frank, Melissa H. Little, Daniel Epting, Peter Papathanasiou, Andrew C. Perkins, Graham D. Wright, Walter Hunziker, Heon Yung Gee, Edgar A. Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann, Gee, Heon Yung

مصطلحات موضوعية: Abnormalities, Multiple/embryology, Multiple/genetics, Adaptor Proteins, Signal Transducing/deficiency, Signal Transducing/genetics, Signal Transducing/physiology, Animals, Centrioles/metabolism, Chromosomes, Human, Pair 3/genetics, Cilia/metabolism, Consanguinity, Disease Models, Animal, Embryo, Nonmammalian/abnormalities, Female, Gene Knockdown Techniques, Genetic Linkage, Humans, Male, Membrane Proteins/metabolism, Mice, Inbred C57BL, Pedigree, Polycystic Kidney, Autosomal Recessive/embryology, Autosomal Recessive/genetics

Relation: NATURE GENETICS; J02294; OAK-2017-04912; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160812; T201703350; NATURE GENETICS, Vol.49(7) : 1025-1034, 2017

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/160812
https://doi.org/10.1038/ng.3871

المؤلفون: Bauche, Stephanie, O'Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Celine, Bouzidi, Nassima, Topf, Ana, Lacene, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Celine, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisele, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Boeuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-Francois, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michele, Nicole, Sophie

المصدر: American Journal of Human Genetics, 99 (3), 753-761 (2016)

مصطلحات موضوعية: Adolescent, Apnea/complications/genetics/metabolism/pathology, Arthrogryposis/complications/genetics, Butyrylcholinesterase/metabolism, Child, Preschool, Cholinergic Neurons/metabolism/pathology, DNA Mutational Analysis, Exome/genetics, Female, Genes, Recessive/genetics, HEK293 Cells, Heterozygote, Homozygote, Humans, Infant, Newborn, Male, Muscle Hypotonia/genetics, Muscle Weakness/complications/genetics/pathology, Mutation/genetics, Mutation, Missense/genetics, Myasthenia Gravis/complications/genetics/metabolism/pathology, Neuromuscular Junction/enzymology/metabolism/pathology, Presynaptic Terminals/metabolism/pathology, Symporters/deficiency/genetics/metabolism, Synaptic Transmission, Human health sciences

Relation: urn:issn:0002-9297; urn:issn:1537-6605; https://orbi.uliege.be/handle/2268/268472; info:hdl:2268/268472; https://orbi.uliege.be/bitstream/2268/268472/1/BaucheAJHG2016.pdf; info:pmid:27569547

الاتاحة: https://orbi.uliege.be/handle/2268/268472
https://orbi.uliege.be/bitstream/2268/268472/1/BaucheAJHG2016.pdf
https://doi.org/10.1016/j.ajhg.2016.06.033

المؤلفون: Geoffrey E. Pollott, Richard J. Piercy, Claire Massey, Mazdak Salavati, Zhangrui Cheng, D. Claire Wathes

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, cattle, glucokinase gene, recessive genetics, runs of homozigosity, WGS, Irish Moiled, perinatal mortality

Relation: https://figshare.com/articles/dataset/DataSheet1_Locating_a_novel_autosomal_recessive_genetic_variant_in_the_cattle_glucokinase_gene_using_only_WGS_data_from_three_cases_and_six_carriers_docx/20707114

الاتاحة: https://doi.org/10.3389/fgene.2022.755693.s001
https://figshare.com/articles/dataset/DataSheet1_Locating_a_novel_autosomal_recessive_genetic_variant_in_the_cattle_glucokinase_gene_using_only_WGS_data_from_three_cases_and_six_carriers_docx/20707114

المؤلفون: Lexner, Michala, Almer, Lis

المصدر: Aktuel Nordisk Odontologi. 35(1):209

المؤلفون: Jaureguiberry, G., De la Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., Poulter, J., Klootwijk, E., Robinette, S.L., Howie, A.J., Patel, V., Figueres, M.L., Stanescu, H.C., Issler, N., Nicholson, J.K., Bockenhauer, D., Laing, C., Walsh, S.B., McCredie, D.A., Povey, S., Asselin, A., Picard, A., Coulomb, A., Medlar, A.J., Bailleul-Forestier, I., Verloes, A., Le Caignec, C., Roussey, G., Guiol, J., Isidor, B., Logan, C., Shore, R., Johnson, C., Inglehearn, C., Al-Bahlani, S., Schmittbuhl, M., Clauss, F., Huckert, M., Laugel, V., Ginglinger, E., Pajarola, S., Spartà, G., Bartholdi, D., Rauch, A., Addor, M.C., Yamaguti, P.M., Safatle, H.P., Acevedo, A.C., Martelli-Júnior, H., dos Santos Netos, P.E., Coletta, R.D., Gruessel, S., Sandmann, C., Ruehmann, D., Langman, C.B., Scheinman, S.J., Ozdemir-Ozenen, D., Hart, T.C., Hart, P.S., Neugebauer, U., Schlatter, E., Houillier, P., Gahl, W.A., Vikkula, M., Bloch-Zupan, A., Bleich, M., Kitagawa, H., Unwin, R.J., Mighell, A., Berdal, A., Kleta, R.

المصدر: Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6

مصطلحات موضوعية: Adolescent, Adult, Amelogenesis Imperfecta/complications, Amelogenesis Imperfecta/genetics, Child, Consanguinity, Dental Enamel Proteins/genetics, Exome/genetics, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Humans, Male, Middle Aged, Mutation, Nephrocalcinosis/complications, Nephrocalcinosis/genetics, Pedigree, Sequence Analysis, DNA/methods, Syndrome, Young Adult

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/23434854; info:eu-repo/semantics/altIdentifier/eissn/1660-2137; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DCEC597C12541; https://serval.unil.ch/notice/serval:BIB_DCEC597C1254; https://serval.unil.ch/resource/serval:BIB_DCEC597C1254.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_DCEC597C1254
https://doi.org/10.1159/000349989
https://serval.unil.ch/resource/serval:BIB_DCEC597C1254.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DCEC597C12541

المؤلفون: Kuramoto, Takashi, Yokoe, Mayuko, Hashimoto, Ryoko, Hiai, Hiroshi, Serikawa, Tadao

المساهمون: 庫本, 高志, 20311409

مصطلحات موضوعية: Animals, Chromosome Mapping, Disease Models, Animal, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/genetics, Autosomal Recessive/pathology, Edar-Associated Death Domain Protein/genetics, Edar-Associated Death Domain Protein/metabolism, HEK293 Cells, Humans, Hypohidrosis/genetics, Mice, Mutation, Missense/genetics, NF-kappa B/genetics, NF-kappa B/metabolism, Rats, Sweat Glands/pathology

وصف الملف: application/pdf

Relation: http://hdl.handle.net/2433/159720; AA12034956; BMC genetics; 12; 91

الاتاحة: http://hdl.handle.net/2433/159720

المؤلفون: Jensen, P K

المصدر: Ugeskrift for Laeger. 165(8):805

المؤلفون: Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vazquez, M., Dougherty, L., Scamuffa, N., Guida, E., Okui, M., Rossier, C., Hancock, M., Buchet, K., Reymond, A., Hummler, E., Marzella, P.L., Kudoh, J., Shimizu, N., Scott, H.S., Antonarakis, S.E., Rossier, B.C.

المصدر: Human Molecular Genetics, vol. 11, no. 23, pp. 2829-2836

مصطلحات موضوعية: Animals, Binding Sites, Blotting, Western, DNA Mutational Analysis, DNA Primers/chemistry, Deafness/genetics, Deafness/metabolism, Endoplasmic Reticulum/metabolism, Epithelial Sodium Channel, Female, Genes, Recessive/genetics, Genotype, Humans, In Situ Hybridization, Male, Membrane Proteins/genetics, Membrane Proteins/metabolism, Mice, Mutation, Missense/genetics, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Oocytes/metabolism, Organ of Corti/metabolism, Protein Transport, RNA, Messenger/metabolism, Rabbits

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/12393794; info:eu-repo/semantics/altIdentifier/pissn/0964-6906; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_353FDBCB75A52; https://serval.unil.ch/notice/serval:BIB_353FDBCB75A5; https://serval.unil.ch/resource/serval:BIB_353FDBCB75A5.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_353FDBCB75A5
https://doi.org/10.1093/hmg/11.23.2829
https://serval.unil.ch/resource/serval:BIB_353FDBCB75A5.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_353FDBCB75A52

المؤلفون: Synofzik, Matthis, Németh, Andrea H.

المصدر: Amsterdam [u.a.] : Elsevier, Handbook of Clinical Neurology 155, 73 - 89 (2018). doi:10.1016/B978-0-444-64189-2.00005-6 ; The Cerebellum: Disorders and Treatment / Synofzik, Matthis ; : Elsevier, 2018, ; ISSN: 00729752 ; ISBN: 9780444641892 ; doi:10.1016/B978-0-444-64189-2.00005-6

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Ataxia: complications, Ataxia: genetics, Cytoskeletal Proteins, Genes, Recessive: genetics, Heredodegenerative Disorders, Nervous System: diagnostic imaging, Nervous System: genetics, Humans, Molecular Diagnostic Techniques, Mutation: genetics, Nerve Tissue Proteins: genetics, Neuroimaging, Nuclear Proteins: genetics, Spinocerebellar Ataxias: classification, Spinocerebellar Ataxias: diagnostic imaging, Spinocerebellar Ataxias: genetics, Vitamin E Deficiency: complications, Vitamin E Deficiency: genetics

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/2212-4152; info:eu-repo/semantics/altIdentifier/pmid/pmid:29891078; info:eu-repo/semantics/altIdentifier/issn/0072-9752; https://pub.dzne.de/record/144609; https://pub.dzne.de/search?p=id:%22DZNE-2020-00121%22

الاتاحة: https://pub.dzne.de/record/144609
https://pub.dzne.de/search?p=id:%22DZNE-2020-00121%22

المؤلفون: Margolis, C.A., Schneider, P., Huttner, K., Kirby, N., Houser, T.P., Wildman, L., Grove, G.L., Schneider, H., Casal, M.L.

المصدر: The Journal of pharmacology and experimental therapeutics, vol. 370, no. 3, pp. 806-813

مصطلحات موضوعية: Animals, Dogs, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/drug therapy, Autosomal Recessive/genetics, Autosomal Recessive/pathology, Ectodysplasins/administration & dosage, Ectodysplasins/therapeutic use, Female, Fetus/diagnostic imaging, Foot, Gestational Age, Pregnancy, Recombinant Proteins/administration & dosage, Recombinant Proteins/therapeutic use, Sweating, Treatment Outcome, Ultrasonography, Interventional

Relation: info:eu-repo/semantics/altIdentifier/pmid/31000577; info:eu-repo/semantics/altIdentifier/eissn/1521-0103; https://serval.unil.ch/notice/serval:BIB_D7292BCE029F

الاتاحة: https://serval.unil.ch/notice/serval:BIB_D7292BCE029F
https://doi.org/10.1124/jpet.118.256040

المؤلفون: Warren J. Leonard, Nima Rezaei, Kathryn Payne, Isabelle Meyts, Laurent Abel, Cindy S. Ma, Marianne Leruez-Ville, Janet Chou, Alain Hovnanian, Jian-Xin Lin, Simon J. Pelham, Danielle T. Avery, Matthieu Bouaziz, Bethany Pillay, Tanwir Habib, Anne Puel, Sevgi Keles, Juan Li, Isabelle Pellier, Jamel El-Benna, Bernhard Fleckenstein, Ahmet Ozen, Vivien Béziat, Ingrid Müller-Fleckenstein, Damien Chaussabel, Samaneh Zoghi, Yi Wang, Paul Gray, Matthias Titeux, Yoann Zerbib, Talal A. Chatila, Marie-Alexandra Alyanakian, Capucine Picard, Orli Wargon, Ayper Somer, Marie-Olivia Chandesris, Thibaut Leclercq, Ibtihal Benhsaien, Aziz Belkadi, Jean-Laurent Casanova, Romain Lévy, Peng Li, Geetha Rao, Ai Ing Lim, James P. Di Santo, Nico Marr, Sylvie Fraitag, Frédégonde About, Elissa K. Deenick, Bertrand Boisson, Jacinta Bustamante, Mélanie Migaud, Bodo Grimbacher, Aziz Bousfiha, Fatima Ailal, Safa Baris, Antoine Guérin, Stuart G. Tangye, Romain Guery, Ning Du, Vimel Rattina

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Rockefeller University [New York], National Institutes of Health [Bethesda] (NIH), Garvan Institute of Medical Research [Darlinghurst, Australia], University of New South Wales [Sydney] (UNSW), CHU Ibn Rochd [Casablanca], Université Hassan II [Casablanca] (UH2MC), Service d'Immuno-Hémato-Oncologie Pédiatrique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Shahid Beheshti University of Medical Sciences [Tehran] (SBUMS), Shahid Beheshti University, Universal Scientific Education and Research Network (USERN), Marmara University [Kadıköy - İstanbul], Necmettin Erbakan University [Konya, Turquie], Immunité Innée, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Harvard Medical School [Boston] (HMS), Boston Children's Hospital, Centre d'infectiologie Necker-Pasteur [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Sidra Medicine, Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Freiburg University Medical Center, Sydney children's hospital, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Genetic skin diseases : from disease mechanism to therapies (Equipe Inserm U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pathologie [CHU Necker], Service d'immuno-hématologie pédiatrique [CHU Necker], Laboratoire de Virologie [CHU Necker], Université Paris Descartes - Paris 5 (UPD5), Centre d'étude des Déficits Immunitaires, University Hospitals Leuven [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Istanbul University, Research Center for Immunodeficiencies [Tehran, Iran], Tehran University of Medical Sciences (TUMS), University of New South Wales [Canberra Campus] (UNSW), Howard Hughes Medical Institute [New York], New York University School of Medicine, NYU System (NYU)-NYU System (NYU)-Rockefeller University [New York]-Columbia University Irving Medical Center (CUIMC), This work was supported by grants from INSERM, Paris Descartes University, Laboratoire d’Excellence Integrative Biology of Emerging Infectious Diseases (ANR-10-LABX-62-IBEID), the Jeffrey Modell Foundation Translational Research Program, the French National Research Agency (ANR, grant nos. GENCMCD-ANR-11-BSV3–005-01, HGDIFD-ANR-14-CE15-0006-01, NKIR-ANR-13-PDOC-0025-01, and EURO-CMC-ANR-14-RARE-0005-02), and grants awarded under the 'Investissement d’avenir' program (grant no. ANR-10-IAHU-01), the National Institute of Allergy and Infectious Diseases of the NIH (grant nos. U01AI109697 and R01AI127564), the Rockefeller University, the Howard Hughes Medical Institute, the St. Giles Foundation, the Institut Pasteur, and FP7, under grant agreements 305578 (PathCO) and 317057 (HOMIN). We thank the Centre de Recherche Translationnelle (Institut Pasteur) for technical assistance. V.B. is supported by the ANR (grant no. NKIR-ANR-13-PDOC-0025-01). R.L. is supported by the INSERM Ph.D. program (Poste d’Accueil INSERM), a Fulbright grant (Franco-American commission), and a Philippe Foundation scholarship. Y.Z. received the 'médaille d’or du Centre Hospitalier Universitaire d’Amiens.' Y.W. is supported by the French National Agency for Research on AIDS and Viral Hepatitis (ANRS, grant no. 13318). F. About holds a fellowship from Fondation pour la Recherche Médicale (FRM, grant no. FDM20140630671). A.G. is supported by an IFNGPHOX grant (no. ANR13-ISV3-0001-01) from ANR. B.G. was funded by BMBF (German Federal Ministry of Education and Research) grants 01E01303 and 01ZX1306F. I.M. is supported by a klinische onderzoeks-en opleidingsraad (clinical research council) grant from UZ Leuven, a klinisch onderzoeksfonds (clinical research fund) grant from KU Leuven, and an International Mobility Grant from Fonds voor Wetenschappelijk Onderzoek (fund for scientific research) Vlaanderen. C.S.M., E.K.D., and S.G.T. are supported by grants and fellowships from the National Health and Medical Research Council of Australia. C.S.M., P.G., E.K.D., and S.G.T. are members of CIRCA (Clinical Immunogenomics Research Consortia Australia), which is funded by the Office of Health and Medical Research of the NSW Government, the Jeffrey Modell Foundation, and the John Cook Brown Foundation. A.I.L. is a scholar of the Pasteur-Paris University International Ph.D. program and is supported by a Ph.D. International Training Network grant from the European Union’s Seventh Framework Program under grant agreement no. 317057 (HOMIN). T.A.C. was supported by a grant from the National Institute of Allergy and Infectious Diseases of the NIH (5R01AI065617). S.K. was supported by a grant from the Scientific and Technological Research Council of Turkey (1059B191300622). J.-X.L., P.L., N.D., and W.J.L. were supported by the Division of Intramural Research, National Heart, Lung, and Blood Institute, NIH. A.P. was supported by an AP-HP interface contract., We thank the patients and their families for participating in this study. We thank J. E. Darnell and C. Mertens for advice and for providing reagents. We thank the members of the laboratory, especially F. Jabot-Hanin and V. Pedergnana, for their valuable input on linkage analysis, L. Amar, Y. Nemirovskaya, D. Papandrea, E. Anderson, M. Woollett, C. Desvallées, C. Patissier, and M. Corrias for administrative assistance, E. Jouanguy and Y. Itan for helpful discussions, S. Boucherit for clinical data collection, S. Jacques and the Cochin genomics platform for microarray experiments, and N. Goudin and R. Desveaux of the Necker Institute Imaging Facility., Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Garvan Institute of medical research, Immunité Innée - Innate Immunity, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sidra Medicine [Doha, Qatar], Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik), Sydney Children's hospital, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Howard Hughes Medical Institute [New York] (HHMI), Howard Hughes Medical Institute (HHMI)-New York University School of Medicine, Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP], Beziat, Vivien, Li, Juan, Lin, Jian-Xin, Ma, Cindy S., Li, Peng, Bousfiha, Aziz, Pellier, Isabelle, Zoghi, Samaneh, Baris, Safa, Keles, Sevgi, Gray, Paul, Du, Ning, Wang, Yi, Zerbib, Yoann, Levy, Romain, Leclercq, Thibaut, About, Fredegonde, Lim, Ai Ing, Rao, Geetha, Payne, Kathryn, Pelham, Simon J., Avery, Danielle T., Deenick, Elissa K., Pillay, Bethany, Chou, Janet, Guery, Romain, Belkadi, Aziz, Guerin, Antoine, Migaud, Melanie, Rattina, Vimel, Ailal, Fatima, Benhsaien, Ibtihal, Bouaziz, Matthieu, Habib, Tanwir, Chaussabel, Damien, Marr, Nico, El-Benna, Jamel, Grimbacher, Bodo, Wargon, Orli, Bustamante, Jacinta, Boisson, Bertrand, Mueller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Chandesris, Marie-Olivia, Titeux, Matthias, Fraitag, Sylvie, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Picard, Capucine, Meyts, Isabelle, Di Santo, James P., Hovnanian, Alain, Somer, Ayper, Ozen, Ahmet, Rezaei, Nima, Chatila, Talal A., Abel, Laurent, Leonard, Warren J., Tangye, Stuart G., Puel, Anne, Casanova, Jean-Laurent

المصدر: Science Immunology
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩

مصطلحات موضوعية: 0301 basic medicine, INBORN-ERRORS, Immunoglobulin E, MESH: STAT3 Transcription Factor/immunology, Loss of heterozygosity, PRECISION MEDICINE, Transcription (biology), OF-FUNCTION MUTATIONS, STAT3, MESH: Transcription Factors/metabolism, CELL-DIFFERENTIATION, MESH: Th2 Cells/metabolism, MESH: Immunoglobulin E/immunology, MESH: Middle Aged, MESH: Gene Expression Regulation/immunology, Cell Differentiation, General Medicine, MESH: RNA, Messenger/metabolism, MESH: Immunoglobulin E/blood, MESH: Zinc Fingers/genetics, READ ALIGNMENT, MESH: Transcription, Genetic/immunology, MESH: Cell Nucleus/metabolism, MESH: Young Adult, [SDV.IMM]Life Sciences [q-bio]/Immunology, SIGNAL TRANSDUCER, Job Syndrome, MESH: Homozygote, STAT3 Transcription Factor, Cell type, MESH: Lymphocyte Count, MESH: Pedigree, MESH: STAT3 Transcription Factor/genetics, Immunology, Biology, Article, MESH: Job Syndrome/immunology, MESH: Genes, Recessive/genetics, DIFFERENTIAL EXPRESSION, MESH: Genes, Recessive/immunology, MESH: Job Syndrome/blood, MESH: Transcription Factors/genetics, 03 medical and health sciences, MESH: Whole Exome Sequencing, MESH: Exons/genetics, Humans, Transcription factor, Gene, MESH: Adolescent, MESH: Consanguinity, MESH: Humans, CLINICAL-FEATURES, MESH: Th17 Cells/metabolism, MESH: Th17 Cells/immunology, MESH: Cytokines/immunology, MESH: Adult, MESH: Loss of Function Mutation, MESH: Job Syndrome/genetics, MESH: Cell Differentiation/genetics, Molecular biology, MESH: Male, MESH: Th2 Cells/immunology, IL-21 RECEPTOR, 030104 developmental biology, Gene Expression Regulation, MESH: STAT3 Transcription Factor/metabolism, MESH: Promoter Regions, Genetic/genetics, MESH: Cell Differentiation/immunology, T-CELLS, STAT protein, biology.protein, Th17 Cells, MESH: Transcription Factors/immunology, MESH: Cytokines/metabolism, MESH: Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a014e03bf19bbdfb4eb205a53e190a3a
https://doi.org/10.1126/sciimmunol.aat4956

المؤلفون: Schüle, R., Schöls, L.

المصدر: Der Nervenarzt 88(7), 720-727 (2017). doi:10.1007/s00115-017-0357-4

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Chromosome Aberrations, Genes, Dominant: genetics, Recessive: genetics, Genetic Testing, Genetic Variation: genetics, Humans, Phenotype, Sequence Analysis, DNA, Spastic Paraplegia, Hereditary: classification, Hereditary: diagnosis, Hereditary: genetics, Spinocerebellar Ataxias: diagnosis, Spinocerebellar Ataxias: genetics

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1433-0407; info:eu-repo/semantics/altIdentifier/pmid/pmid:28600743; info:eu-repo/semantics/altIdentifier/issn/0028-2804; https://pub.dzne.de/record/139361; https://pub.dzne.de/search?p=id:%22DZNE-2020-05683%22

الاتاحة: https://pub.dzne.de/record/139361
https://pub.dzne.de/search?p=id:%22DZNE-2020-05683%22

المؤلفون: Gerber, Sylvie, Alzayady, Kamil j., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-Da-Silva-Lopes, Vera lucia, Ribeiro bittar, Maria fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David i., Rozet, Jean-Michel, Fares taie, Lucas

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Strasbourg (UNISTRA), University of Rochester USA, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Henri Mondor Créteil, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidade Estadual de Campinas = University of Campinas (UNICAMP), Hôpital Jean Verdier AP-HP, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: MESH: Adolescent, MESH: Aniridia / etiology, MESH: Genes, Recessive / genetics, MESH: Humans, MESH: Infant, Newborn, MESH: Inositol 1,4,5-Trisphosphate Receptors / genetics, MESH: Intellectual Disability / etiology, MESH: Intellectual Disability / pathology, MESH: Male, MESH: Mutation / genetics, MESH: Pedigree, MESH: Aniridia / pathology, MESH: Cerebellar Ataxia / etiology, MESH: Cerebellar Ataxia / pathology, MESH: Child, Preschool, MESH: Female, Dominant / genetics, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

Relation: info:eu-repo/semantics/altIdentifier/pmid/27108797; PUBMED: 27108797; PUBMEDCENTRAL: PMC4863566

الاتاحة: https://ut3-toulouseinp.hal.science/hal-03275464
https://doi.org/10.1016/j.ajhg.2016.03.004

المؤلفون: Lodder, E.M., De Nittis, P., Koopman, C.D., Wiszniewski, W., Moura de Souza, C.F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E.A., Boualla, L., Blom, N.A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z.H., Fish, R.J., Eldomery, M.K., Ratbi, I., Wilde, A.A., de Boer, T., Simonds, W.F., Neerman-Arbez, M., Sutton, V.R., Kok, F., Lupski, J.R., Reymond, A., Bezzina, C.R., Bakkers, J., Merla, G.

المصدر: American journal of human genetics, vol. 99, no. 3, pp. 704-710

مصطلحات موضوعية: Adolescent, Animals, Bradycardia/genetics, Bradycardia/physiopathology, Child, Developmental Disabilities/genetics, Developmental Disabilities/physiopathology, Female, GTP-Binding Protein beta Subunits/deficiency, GTP-Binding Protein beta Subunits/genetics, Gastroesophageal Reflux/genetics, Gastroesophageal Reflux/physiopathology, Gene Deletion, Genes, Recessive/genetics, Heart Rate/genetics, Heterozygote, Humans, Male, Muscle Hypotonia/genetics, Mutation/genetics, Mutation, Missense/genetics, Pedigree, Phenotype, Retinal Diseases/genetics, Retinal Diseases/physiopathology, Seizures/genetics, Sinoatrial Node/physiopathology, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/27523599; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_764CB1E0F6D0

الاتاحة: https://serval.unil.ch/notice/serval:BIB_764CB1E0F6D0
https://doi.org/10.1016/j.ajhg.2016.06.025

المؤلفون: Abouzeid, Hana, Othman, I S, Schorderet, D F

المصدر: ISSN: 0023-2165 ; Klinische Monatsblätter für Augenheilkunde, vol. 233, no. 4 (2016) p. 456-459.

مصطلحات موضوعية: Egypt, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Humans, Leber Congenital Amaurosis/diagnosis/genetics, Male, Mutation/genetics, Polymorphism, Single Nucleotide/genetics, Proteins/genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/27116508; https://archive-ouverte.unige.ch/unige:142388; unige:142388

الاتاحة: https://archive-ouverte.unige.ch/unige:142388

المؤلفون: Daniel F. Schorderet, Hana Abouzeid, I. S. Othman

المصدر: Klinische Monatsblätter für Augenheilkunde, Vol. 233, No 4 (2016) pp. 456-9

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Mutation/genetics, Recessive/genetics, Leber Congenital Amaurosis, Population, Genes, Recessive, Disease, Fundus (eye), medicine.disease_cause, Polymorphism, Single Nucleotide, Leber Congenital Amaurosis/diagnosis/genetics, 03 medical and health sciences, Atrophy, medicine, Humans, genetics, cone-rod dystrophy, Genetic Predisposition to Disease, RPGRIP1, Polymorphism, education, Genetics, Mutation, education.field_of_study, Genetic heterogeneity, business.industry, Genetic Predisposition to Disease/genetics, Proteins, Dystrophy, medicine.disease, Phenotype, eye diseases, Cytoskeletal Proteins, Ophthalmology, 030104 developmental biology, Genes, Proteins/genetics, Egypt, Female, sense organs, business, Single Nucleotide/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034c3d6872ee8407db9ee55eca8e60d9
https://archive-ouverte.unige.ch/unige:142388

المؤلفون: Dikoglu, E., Alfaiz, A., Gorna, M., Bertola, D., Chae, J.H., Cho, T.J., Derbent, M., Alanay, Y., Guran, T., Kim, O.H., Llerenar, J.C., Yamamoto, G., Superti-Furga, G., Reymond, A., Xenarios, I., Stevenson, B., Campos-Xavier, B., Bonafé, L., Superti-Furga, A., Unger, S.

المصدر: American Journal of Medical Genetics. Part A, vol. 167, no. 7, pp. 1501-1509

مصطلحات موضوعية: ATP-Dependent Proteases/genetics, Base Sequence, Craniofacial Abnormalities/genetics, Exome/genetics, Eye Abnormalities/genetics, Genes, Recessive/genetics, Growth Disorders/genetics, Hip Dislocation, Congenital/genetics, Humans, Mitochondrial Proteins/genetics, Models, Genetic, Molecular Sequence Data, Mutation/genetics, Osteochondrodysplasias/genetics, Sequence Analysis, DNA, Switzerland, Tooth Abnormalities/genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/25808063; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_5FC5887518A1

الاتاحة: https://serval.unil.ch/notice/serval:BIB_5FC5887518A1
https://doi.org/10.1002/ajmg.a.37029