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Wyszukujesz frazę ""MESH: Pedigree"" wg kryterium: Temat


Tytuł :
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Autorzy :
Florian, Rahel
Kraft, Florian
Leitão, Elsa
Kaya, Sabine
Klebe, Stephan
Magnin, Eloi
van Rootselaar, Anne-Fleur
Buratti, Julien
Kühnel, Theresa
Schröder, Christopher
Giesselmann, Sebastian
Tschernoster, Nikolai
Altmueller, Janine
Lamiral, Anaide
Keren, Boris
Nava, Caroline
Bouteiller, Delphine
Forlani, Sylvie
Jornea, Ludmila
Kubica, Regina
Ye, Tao
Plassard, Damien
Jost, Bernard
Meyer, Vincent
Deleuze, Jean-François
Delpu, Yannick
Avarello, Mario
Vijfhuizen, Lisanne
Rudolf, Gabrielle
Hirsch, Edouard
Kroes, Thessa
Reif, Philipp
Rosenow, Felix
Ganos, Christos
Vidailhet, Marie
Thivard, Lionel
Mathieu, Alexandre
Bourgeron, Thomas
Kurth, Ingo
Rafehi, Haloom
Steenpass, Laura
Horsthemke, Bernhard
Leguern, Eric
Klein, Karl Martin
Labauge, Pierre
Bennett, Mark
Bahlo, Melanie
Gecz, Jozef
Corbett, Mark
Tijssen, Marina
Van Den Maagdenberg, Arn
Depienne, Christel
Pokaż więcej
Temat :
Neurodegenerative diseases
Genomic instability
Neurological disorders
Epilepsy
MESH: Adolescent
MESH: Adult
MESH: Ubiquitin-Protein Ligases/genetics
MESH: Young Adult
MESH: Aged
MESH: Chromosome Mapping
MESH: DNA Repeat Expansion
MESH: Epilepsies, Myoclonic/genetics
MESH: Female
MESH: Humans
MESH: Introns
MESH: Male
MESH: Membrane Proteins/genetics
MESH: Middle Aged
MESH: Pedigree
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Tytuł :
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Autorzy :
Florian, Rahel
Kraft, Florian
Leitão, Elsa
Kaya, Sabine
Klebe, Stephan
Magnin, Eloi
van Rootselaar, Anne-Fleur
Buratti, Julien
Kühnel, Theresa
Schröder, Christopher
Giesselmann, Sebastian
Tschernoster, Nikolai
Altmueller, Janine
Lamiral, Anaide
Keren, Boris
Nava, Caroline
Bouteiller, Delphine
Forlani, Sylvie
Jornea, Ludmila
Kubica, Regina
Ye, Tao
Plassard, Damien
Jost, Bernard
Meyer, Vincent
Deleuze, Jean-François
Delpu, Yannick
Avarello, Mario
Vijfhuizen, Lisanne
Rudolf, Gabrielle
Hirsch, Edouard
Kroes, Thessa
Reif, Philipp
Rosenow, Felix
Ganos, Christos
Vidailhet, Marie
Thivard, Lionel
Mathieu, Alexandre
Bourgeron, Thomas
Kurth, Ingo
Rafehi, Haloom
Steenpass, Laura
Horsthemke, Bernhard
Leguern, Eric
Klein, Karl Martin
Labauge, Pierre
Bennett, Mark
Bahlo, Melanie
Gecz, Jozef
Corbett, Mark
Tijssen, Marina
Van Den Maagdenberg, Arn
Depienne, Christel
Pokaż więcej
Temat :
Neurodegenerative diseases
Genomic instability
Neurological disorders
Epilepsy
MESH: Adolescent
MESH: Adult
MESH: Ubiquitin-Protein Ligases/genetics
MESH: Young Adult
MESH: Aged
MESH: Chromosome Mapping
MESH: DNA Repeat Expansion
MESH: Epilepsies, Myoclonic/genetics
MESH: Female
MESH: Humans
MESH: Introns
MESH: Male
MESH: Membrane Proteins/genetics
MESH: Middle Aged
MESH: Pedigree
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Tytuł :
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
Autorzy :
Metz, Kyle A.
Teng, Xinchen
Coppens, Isabelle
Lamb, Heather M.
Wagner, Bart E.
Rosenfeld, Jill A.
Chen, Xianghui
Zhang, Yu
Kim, Hee Jong
Meadow, Michael E.
Wang, Tim Sen
Haberlandt, Edda D.
Anderson, Glenn W.
Leshinsky‐Silver, Esther
Bi, Weimin
Markello, Thomas C.
Pratt, Marsha
Makhseed, Nawal
Garnica, Adolfo
Danylchuk, Noelle R.
Burrow, Thomas A.
Jayakar, Parul
McKnight, Dianalee
Agadi, Satish
Gbedawo, Hatha
Stanley, Christine
Alber, Michael
Prehl, Isabelle
Peariso, Katrina
Ong, Min Tsui
Mordekar, Santosh R.
Parker, Michael J.
Crooks, Daniel
Agrawal, Pankaj B.
Berry, Gerard T.
Loddenkemper , Tobias
Yang, Yapin
Maegawa, Gustavo H. B.
AOUACHERIA, Abdel
Markle, Janet G.
Wohlschlegel, James A.
Hartman, Adam L.
Hardwick, J. Marie
Pokaż więcej
Temat :
MESH: Autophagy/genetics
MESH: Male
MESH: Saccharomyces cerevisiae Proteins/genetics
MESH: Pedigree
MESH: Infant
MESH: Lysosomes/genetics
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
MESH: Humans
MESH: Potassium Channels/genetics
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]
MESH: Child, Preschool
MESH: Lysosomes/pathology
[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM]
Article
[SDV.BC]Life Sciences [q-bio]/Cellular Biology
[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology
MESH: Neurodegenerative Diseases/pathology
[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]
MESH: Potassium Channels/deficiency
MESH: Female
MESH: Mutation
MESH: Neurodegenerative Diseases/genetics
MESH: Age of Onset
Źródło :
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Tytuł :
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
Autorzy :
Metz, Kyle A.
Teng, Xinchen
Coppens, Isabelle
Lamb, Heather M.
Wagner, Bart E.
Rosenfeld, Jill A.
Chen, Xianghui
Zhang, Yu
Kim, Hee Jong
Meadow, Michael E.
Wang, Tim Sen
Haberlandt, Edda D.
Anderson, Glenn W.
Leshinsky‐Silver, Esther
Bi, Weimin
Markello, Thomas C.
Pratt, Marsha
Makhseed, Nawal
Garnica, Adolfo
Danylchuk, Noelle R.
Burrow, Thomas A.
Jayakar, Parul
McKnight, Dianalee
Agadi, Satish
Gbedawo, Hatha
Stanley, Christine
Alber, Michael
Prehl, Isabelle
Peariso, Katrina
Ong, Min Tsui
Mordekar, Santosh R.
Parker, Michael J.
Crooks, Daniel
Agrawal, Pankaj B.
Berry, Gerard T.
Loddenkemper , Tobias
Yang, Yapin
Maegawa, Gustavo H. B.
AOUACHERIA, Abdel
Markle, Janet G.
Wohlschlegel, James A.
Hartman, Adam L.
Hardwick, J. Marie
Pokaż więcej
Temat :
MESH: Age of Onset
MESH: Autophagy/genetics
MESH: Humans
MESH: Infant
MESH: Lysosomes/genetics
MESH: Lysosomes/pathology
MESH: Male
MESH: Mutation
MESH: Neurodegenerative Diseases/genetics
MESH: Neurodegenerative Diseases/pathology
MESH: Pedigree
MESH: Potassium Channels/deficiency
MESH: Potassium Channels/genetics
MESH: Saccharomyces cerevisiae Proteins/genetics
MESH: Child, Preschool
MESH: Female
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
[SDV.BC]Life Sciences [q-bio]/Cellular Biology
[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology
[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]
[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]
[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM]
Źródło :
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Tytuł :
A recessive form of Hyper IgE Syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
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, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
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
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
Pokaż więcej
Temat :
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/metabolism
MESH: Male
MESH: Gene Expression Regulation/immunology
MESH: RNA, Messenger/metabolism
MESH: Transcription Factors/immunology
[SDV.IMM]Life Sciences [q-bio]/Immunology
MESH: Transcription Factors/metabolism
MESH: Homozygote
MESH: Th2 Cells/metabolism
MESH: Lymphocyte Count
MESH: STAT3 Transcription Factor/immunology
MESH: Transcription Factors/genetics
MESH: Transcription, Genetic/immunology
MESH: Cytokines/metabolism
MESH: Young Adult
MESH: Th17 Cells/immunology
MESH: Cell Nucleus/metabolism
MESH: Female
MESH: Adult
MESH: Cell Differentiation/genetics
MESH: Genes, Recessive/immunology
MESH: Whole Exome Sequencing
MESH: STAT3 Transcription Factor/metabolism
MESH: Adolescent
MESH: Pedigree
MESH: Job Syndrome/blood
MESH: Th2 Cells/immunology
MESH: Consanguinity
MESH: Exons/genetics
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: STAT3 Transcription Factor/genetics
MESH: Cytokines/immunology
Article
MESH: Loss of Function Mutation
MESH: Middle Aged
MESH: Genes, Recessive/genetics
MESH: Promoter Regions, Genetic/genetics
MESH: Zinc Fingers/genetics
MESH: Job Syndrome/immunology
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/genetics
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Tytuł :
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
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, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
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
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
Pokaż więcej
Temat :
MESH: Adolescent
MESH: Adult
MESH: Job Syndrome/genetics
MESH: Job Syndrome/immunology
MESH: Cell Differentiation/genetics
MESH: Loss of Function Mutation
MESH: Lymphocyte Count
MESH: Male
MESH: Middle Aged
MESH: Pedigree
MESH: Promoter Regions, Genetic/genetics
MESH: RNA, Messenger/metabolism
MESH: Gene Expression Regulation/immunology
MESH: STAT3 Transcription Factor/genetics
MESH: STAT3 Transcription Factor/immunology
MESH: STAT3 Transcription Factor/metabolism
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/immunology
MESH: Th17 Cells/metabolism
MESH: Th2 Cells/immunology
MESH: Th2 Cells/metabolism
MESH: Transcription Factors/genetics
MESH: Transcription Factors/immunology
MESH: Genes, Recessive/genetics
MESH: Transcription Factors/metabolism
MESH: Transcription, Genetic/immunology
MESH: Whole Exome Sequencing
MESH: Young Adult
MESH: Cell Nucleus/metabolism
MESH: Zinc Fingers/genetics
MESH: Consanguinity
MESH: Cytokines/immunology
MESH: Cytokines/metabolism
MESH: Exons/genetics
MESH: Genes, Recessive/immunology
MESH: Female
MESH: Homozygote
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/blood
[SDV.IMM]Life Sciences [q-bio]/Immunology
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Tytuł :
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
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, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
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
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
Pokaż więcej
Temat :
MESH: Adolescent
MESH: Adult
MESH: Job Syndrome/genetics
MESH: Job Syndrome/immunology
MESH: Cell Differentiation/genetics
MESH: Loss of Function Mutation
MESH: Lymphocyte Count
MESH: Male
MESH: Middle Aged
MESH: Pedigree
MESH: Promoter Regions, Genetic/genetics
MESH: RNA, Messenger/metabolism
MESH: Gene Expression Regulation/immunology
MESH: STAT3 Transcription Factor/genetics
MESH: STAT3 Transcription Factor/immunology
MESH: STAT3 Transcription Factor/metabolism
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/immunology
MESH: Th17 Cells/metabolism
MESH: Th2 Cells/immunology
MESH: Th2 Cells/metabolism
MESH: Transcription Factors/genetics
MESH: Transcription Factors/immunology
MESH: Genes, Recessive/genetics
MESH: Transcription Factors/metabolism
MESH: Transcription, Genetic/immunology
MESH: Whole Exome Sequencing
MESH: Young Adult
MESH: Cell Nucleus/metabolism
MESH: Zinc Fingers/genetics
MESH: Consanguinity
MESH: Cytokines/immunology
MESH: Cytokines/metabolism
MESH: Exons/genetics
MESH: Genes, Recessive/immunology
MESH: Female
MESH: Homozygote
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/blood
[SDV.IMM]Life Sciences [q-bio]/Immunology
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Tytuł :
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
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, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
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
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
Pokaż więcej
Temat :
MESH: Adolescent
MESH: Adult
MESH: Job Syndrome/genetics
MESH: Job Syndrome/immunology
MESH: Cell Differentiation/genetics
MESH: Loss of Function Mutation
MESH: Lymphocyte Count
MESH: Male
MESH: Middle Aged
MESH: Pedigree
MESH: Promoter Regions, Genetic/genetics
MESH: RNA, Messenger/metabolism
MESH: Gene Expression Regulation/immunology
MESH: STAT3 Transcription Factor/genetics
MESH: STAT3 Transcription Factor/immunology
MESH: STAT3 Transcription Factor/metabolism
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/immunology
MESH: Th17 Cells/metabolism
MESH: Th2 Cells/immunology
MESH: Th2 Cells/metabolism
MESH: Transcription Factors/genetics
MESH: Transcription Factors/immunology
MESH: Genes, Recessive/genetics
MESH: Transcription Factors/metabolism
MESH: Transcription, Genetic/immunology
MESH: Whole Exome Sequencing
MESH: Young Adult
MESH: Cell Nucleus/metabolism
MESH: Zinc Fingers/genetics
MESH: Consanguinity
MESH: Cytokines/immunology
MESH: Cytokines/metabolism
MESH: Exons/genetics
MESH: Genes, Recessive/immunology
MESH: Female
MESH: Homozygote
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/blood
[SDV.IMM]Life Sciences [q-bio]/Immunology
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Tytuł :
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
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, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
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
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
Pokaż więcej
Temat :
MESH: Adolescent
MESH: Adult
MESH: Job Syndrome/genetics
MESH: Job Syndrome/immunology
MESH: Cell Differentiation/genetics
MESH: Loss of Function Mutation
MESH: Lymphocyte Count
MESH: Male
MESH: Middle Aged
MESH: Pedigree
MESH: Promoter Regions, Genetic/genetics
MESH: RNA, Messenger/metabolism
MESH: Gene Expression Regulation/immunology
MESH: STAT3 Transcription Factor/genetics
MESH: STAT3 Transcription Factor/immunology
MESH: STAT3 Transcription Factor/metabolism
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/immunology
MESH: Th17 Cells/metabolism
MESH: Th2 Cells/immunology
MESH: Th2 Cells/metabolism
MESH: Transcription Factors/genetics
MESH: Transcription Factors/immunology
MESH: Genes, Recessive/genetics
MESH: Transcription Factors/metabolism
MESH: Transcription, Genetic/immunology
MESH: Whole Exome Sequencing
MESH: Young Adult
MESH: Cell Nucleus/metabolism
MESH: Zinc Fingers/genetics
MESH: Consanguinity
MESH: Cytokines/immunology
MESH: Cytokines/metabolism
MESH: Exons/genetics
MESH: Genes, Recessive/immunology
MESH: Female
MESH: Homozygote
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/blood
[SDV.IMM]Life Sciences [q-bio]/Immunology
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩

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