Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

Human Genetics

Volumn 134, Issue 8, 2015, Pages 905-916

  Hwang, Daw Yang ^a,l   Kohl, Stefan ^a   Fan, Xueping ^b   Vivante, Asaf ^a   Chan, Stefanie ^b   Dworschak, Gabriel C ^a,d   Schulz, Julian ^a   van Eerde, Albertien M ^c   Hilger, Alina C ^d   Gee, Heon Yung ^a   Pennimpede, Tracie ^e   Herrmann, Bernhard G ^e   van de Hoek, Glenn ^c   Renkema, Kirsten Y ^c   Schell, Christoph ^f,m   Huber, Tobias B ^f,m   Reutter, Heiko M ^d   Soliman, Neveen A ^g,n   Stajic, Natasa ^h,o   Bogdanovic, Radovan ^h,o   Kehinde, Elijah O ⁱ   Lifton, Richard P ^j,p   Tasic, Velibor ^k   Lu, Weining ^b   Hildebrandt, Friedhelm ^a,p   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BOSTON UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF BONN   (Germany)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f UNIVERSITY OF FREIBURG   (Germany)

^g CAIRO UNIVERSITY   (Egypt)

^h UNIVERSITY OF BELGRADE   (Serbia)

ⁱ KUWAIT UNIVERSITY   (Kuwait)

^j YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k University Children Hospital   (Macedonia)

^l KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^m UNIVERSITY OF FREIBURG   (Germany)

ⁿ Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

^o Institute of Mother and Child Healthcare of Serbia   (Serbia)

^p HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; PROTEIN CDC42; RAC1 PROTEIN; ROBO2 PROTEIN; ROUNDABOUT RECEPTOR; SLIT2 PROTEIN; SRGAP1 PROTEIN; UNCLASSIFIED DRUG; IMMUNOGLOBULIN RECEPTOR; NERVE PROTEIN; ROBO2 PROTEIN, HUMAN; ROBO2 PROTEIN, MOUSE; ROBO2 PROTEIN, RAT; SIGNAL PEPTIDE; SLIT HOMOLOG 2 PROTEIN; SRGAP1 PROTEIN, HUMAN; SRGAP1 PROTEIN, RAT;

AMINO ACID SUBSTITUTION; ANIMAL TISSUE; ARTICLE; ASYMPTOMATIC DISEASE; CELL MIGRATION; CHILD; COHORT ANALYSIS; CONGENITAL ANOMALY OF THE KIDNEY AND URINARY TRACT; CONGENITAL MALFORMATION; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; ENZYME INHIBITION; EXOME; FEMALE; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC RISK; GENETIC TRANSFECTION; GENETIC VARIABILITY; GROWTH INHIBITION; HETEROZYGOSITY; HUMAN; HUMAN CELL; KIDNEY AGENESIS; KIDNEY DEVELOPMENT; KIDNEY DUPLICATION; KIDNEY MALFORMATION; MALE; MISSENSE MUTATION; MOUSE; MULTICYSTIC DYSPLASTIC KIDNEY; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RAT; SIGNAL TRANSDUCTION; SOLITARY KIDNEY; URINARY TRACT MALFORMATION; ANIMAL; BIOSYNTHESIS; CLINICAL TRIAL; EMBRYOLOGY; GENETICS; HEK293 CELL LINE; MESODERM; METABOLISM; MULTICENTER STUDY; MUTATION; RISK FACTOR; UROGENITAL TRACT MALFORMATION; VESICOURETERAL REFLUX;

RATTUS;

ANIMALS; EXOME; GTPASE-ACTIVATING PROTEINS; HEK293 CELLS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MESODERM; MICE; MUTATION; NERVE TISSUE PROTEINS; RATS; RECEPTORS, IMMUNOLOGIC; RISK FACTORS; SIGNAL TRANSDUCTION; UROGENITAL ABNORMALITIES; VESICO-URETERAL REFLUX;

EID: 84937518706     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1570-5     Document Type: Article

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