Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations

Human Molecular Genetics

Volumn 26, Issue 9, 2017, Pages 1716-1731

  Kosfeld, Anne ^a   Brand, Frank ^a   Weiss, Anna Carina ^a   Kreuzer, Martin ^a   Goerk, Michaela ^b   Martens, Helge ^a   Schubert, Stephanie ^a   Schäfer, Anne Kathrin ^a   Riehmer, Vera ^a   Hennies, Imke ^a   Bräsen, Jan Hinrich ^a   Pape, Lars ^a   Amann, Kerstin ^b   Krogvold, Lars ^c   Bjerre, Anna ^c   Daniel, Christoph ^b   Kispert, Andreas ^a   Haffner, Dieter ^a   Weber, Ruthild G ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 6; LEUKEMIA INHIBITORY FACTOR RECEPTOR; MESSENGER RNA; STAT3 PROTEIN; LEUKEMIA INHIBITORY FACTOR; LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA; LIF PROTEIN, HUMAN; LIFR PROTEIN, HUMAN; LIFR PROTEIN, MOUSE;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL MEMBRANE; CHILD; CONTROLLED STUDY; CRYPTORCHISM; ECTOPIC URETER; EMBRYO; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; HALF LIFE TIME; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; HYDROURETER; KIDNEY; KIDNEY TRANSPLANTATION; KNOCKOUT MOUSE; MAJOR CLINICAL STUDY; MALE; MOUSE; MUSCLE HYPERTROPHY; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; URETER; URINARY TRACT MALFORMATION; WHOLE EXOME SEQUENCING; YOUNG ADULT; ABNORMALITIES; ADOLESCENT; ANIMAL; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; EXOME; GENETICS; INFANT; METABOLISM; MUTATION; PATHOLOGY; URINARY TRACT; UROGENITAL TRACT MALFORMATION;

ADOLESCENT; ADULT; ANIMALS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT; KIDNEY; LEUKEMIA INHIBITORY FACTOR; LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA SUBUNIT; MALE; MICE; MICE, KNOCKOUT; MUTATION; RECEPTORS, OSM-LIF; SEQUENCE ANALYSIS, DNA; URETER; URINARY TRACT; UROGENITAL ABNORMALITIES;

EID: 85019124877     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx086     Document Type: Article

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