Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to hirschsprung disease liability

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 581-596

  Jiang, Qian ^a,b   Arnold, Stacey ^a   Heanue, Tiffany ^c   Kilambi, Krishna Praneeth ^d   Doan, Betty ^a   Kapoor, Ashish ^a   Ling, Albee Yun ^a   Sosa, Maria X ^a   Guy, Moltu ^a   Jiang, Qingguang ^a   Burzynski, Grzegorz ^a   West, Kristen ^a   Bessling, Seneca ^a   Griseri, Paola ^e   Amiel, Jeanne ^f,g   Fernandez, Raquel M ^h,i   Verheij, Joke B G M ^j   Hofstra, Robert M W ^k,l   Borrego, Salud ^h,i   Lyonnet, Stanislas ^f,g   Ceccherini, Isabella ^e   Gray, Jeffrey J ^d   Pachnis, Vassilis ^c   McCallion, Andrew S ^a   Chakravarti, Aravinda ^a   more..

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CAPITAL INSTITUTE OF PEDIATRICS   (China)

^c NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^d Whiting School of Engineering   (United States)

^e G GASLINI INSTITUTE   (Italy)

^f INSERM   (France)

^g PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^h HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

ⁱ CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^j UNIVERSITY OF GRONINGEN   (Netherlands)

^k ERASMUS MEDICAL CENTER   (Netherlands)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOTACTIC FACTOR; NEUROPILIN 1; NEUROPILIN 2; SEMAPHORIN 3A; SEMAPHORIN 3C; SEMAPHORIN 3D; UNCLASSIFIED DRUG; PROTEIN RET; RET PROTEIN, MOUSE; SEMA 3D PROTEIN, MOUSE; SEMAPHORIN; SEMAPHORIN 3C PROTEIN, MOUSE;

ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHROMOSOME 10Q; CHROMOSOME 7; CHROMOSOME 7Q; CONTROLLED STUDY; DIMERIZATION; EMBRYO; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE INTERACTION; GENE LOSS; GENE REPLICATION; GENETIC ASSOCIATION; HAPLOTYPE MAP; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; INTESTINE INNERVATION; MALE; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; ONCOGENE RET; PLEXIN A2 GENE; PLEXIN A4 GENE; PLEXINA1 GENE; PLEXINA3 GENE; PLEXIND1 GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEMA3C GENE; SEMA3D GENE; SEX DIFFERENCE; ZEBRA FISH; ANIMAL; DEFICIENCY; DNA SEQUENCE; EPISTASIS; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

DANIO RERIO; MUS;

ANIMALS; BASE SEQUENCE; EPISTASIS, GENETIC; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HIRSCHSPRUNG DISEASE; MICE; MOLECULAR SEQUENCE DATA; PROTO-ONCOGENE PROTEINS C-RET; SEMAPHORINS; SEQUENCE ANALYSIS, DNA;

EID: 84926162155     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.014     Document Type: Article

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