Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm

Human Genetics

Volumn 127, Issue 3, 2010, Pages 325-336

  Lopezjimenez, Nelson ^a   Gerber, Simon ^b   Popovici, Vlad ^c   Mirza, Sonia ^d   Copren, Kirsten ^d   Ta, Linda ^e   Shaw, Gary M ^f   Trueb, Beat ^b   Slavotinek, Anne M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e GLADSTONE INSTITUTES   (United States)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; FIBROBLAST GROWTH FACTOR RECEPTOR 5; GLUTAMINE; HEPHAESTIN; HEPHAESTIN LIKE 1 PROTEIN; LEUCINE; LEUCINE RICH REPEAT AND TRANSMEMBRANE DOMAIN CONTAINING PROTEIN 1; MEMBRANE PROTEIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 4; MYOSIN HEAVY CHAIN 7; MYOSIN LIGHT CHAIN; MYOSIN LIGHT CHAIN 2; MYOSIN LIGHT CHAIN 3; PROLINE; PROTEIN CDC42; RAC PROTEIN; SLIT PROTEIN; SLIT3 PROTEIN; TROPOMYOSIN; TROPOMYOSIN 3; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL FUSION; CELL MIGRATION; CELL MOTILITY; CHROMOSOME 4P; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER PROGRAM; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INHIBITION KINETICS; MOUSE; MYOBLAST; NERVE FIBER GROWTH; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SARCOMERE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 4; DIAPHRAGM; DOWN-REGULATION; EMBRYO, MAMMALIAN; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HERNIA, DIAPHRAGMATIC; HUMANS; MICE; MICE, KNOCKOUT; PERITONEAL DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 5; SARCOMERES; TROPOMYOSIN;

MUS;

EID: 77949264162     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0777-8     Document Type: Article

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