Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Source :

• Human Mutation [ 1059-7794 ] ; 2013-06.

Descripteurs français

• Wicri :
  • topic : Génétique, Oxyde.

English descriptors

• KwdEn :
  • Activation domain, Alveolar capillary dysplasia, Amino, Amino acids, Atresia, Autopsy, Baylor college, Biopsy, Carlsson, Caucasian, Clinical information, Cliniques universitaires universite catholique, Codon, Czech republic, Deleterious, Deleteriousc, Deletion, Dobutamine, Dopamine, Dysplasia, Epinephrine, Epoprostenol, Exon, Familial cases, Forkhead, Forkhead family, Foxf1, Frameshift, Genet, Genetics, Genitourinary systems, Human lungs, Human mutation, Hypertension, Inframe deletion, Intestine, Kalinichenko, Langston, Mahlapuu, Malrotation, Masaryk university, Medical genetics, Milrinone, Misalignment, Missense, Missense mutations, Mutation, Nitric, Nitric oxide, Norepinephrine nitric oxide, Oxide, Pediatr, Pediatrics, Physiol lung cell, Pulmonary hypertension, Pulmonary veins, Reading frame, Second exon, Stankiewicz, Szafranski, Transcription, Transcription factor, Western australia.
• Teeft :
  • Activation domain, Alveolar capillary dysplasia, Amino, Amino acids, Atresia, Autopsy, Baylor college, Biopsy, Carlsson, Caucasian, Clinical information, Cliniques universitaires universite catholique, Codon, Czech republic, Deleterious, Deleteriousc, Deletion, Dobutamine, Dopamine, Dysplasia, Epinephrine, Epoprostenol, Exon, Familial cases, Forkhead, Forkhead family, Foxf1, Frameshift, Genet, Genetics, Genitourinary systems, Human lungs, Human mutation, Hypertension, Inframe deletion, Intestine, Kalinichenko, Langston, Mahlapuu, Malrotation, Masaryk university, Medical genetics, Milrinone, Misalignment, Missense, Missense mutations, Mutation, Nitric, Nitric oxide, Norepinephrine nitric oxide, Oxide, Pediatr, Pediatrics, Physiol lung cell, Pulmonary hypertension, Pulmonary veins, Reading frame, Second exon, Stankiewicz, Szafranski, Transcription, Transcription factor, Western australia.

Abstract

• https://api.istex.fr/document/E58CBEBF6D6AB64F5BDEFAB3D2FBE025D539A672/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886

Affiliations:

• Allemagne, Australie, Belgique, Espagne, France, Pays-Bas, Portugal, Royaume-Uni, République populaire de Chine, République tchèque, Suisse, Suède, États-Unis
• Californie, Canton de Vaud, Catalogne, District de Münster, Guangdong, Hollande-Méridionale, Massachusetts, Midi-Pyrénées, Missouri (État), Moravie, Nouvelle-Galles du Sud, Occitanie (région administrative), Pennsylvanie, Rhénanie-du-Nord-Westphalie, Région de Bruxelles-Capitale, Texas, Washington (État)
• Barcelone, Boston, Brno, Bruxelles, Dallas, Houston, Lausanne, Los Angeles, Münster, Philadelphie, Pittsburgh, Rotterdam, Saint-Louis (Missouri), Seattle, Shenzhen, Sydney, Toulouse
• Université de Washington, École de médecine (Université Washington de Saint-Louis)

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

• to stream Istex, to step Corpus: 002B22
• to stream Istex, to step Curation: 002B22
• to stream Istex, to step Checkpoint: 000318
• to stream Pmc, to step Corpus: 002116
• to stream Pmc, to step Curation: 001F70
• to stream Pmc, to step Checkpoint: 001978
• to stream Ncbi, to step Merge: 001172
• to stream Ncbi, to step Curation: 001172
• to stream Ncbi, to step Checkpoint: 001172
• to stream Main, to step Merge: 004B32
• to stream Main, to step Curation: 004A08

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