A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism

Journal of Biological Chemistry

Volumn 288, Issue 47, 2013, Pages 33571-33584

  Arsenault, Patrick R ^a   Pei, Fei ^a   Lee, Rebecca ^a   Kerestes, Heddy ^a   Percy, Melanie J ^e   Keith, Brian ^b,c   Celeste Simon, M ^b,c,d   Lappin, Terence R J ^f   Khurana, Tejvir S ^b   Lee, Frank S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOLOGY; GENES;

ERYTHROPOIETIN (EPO); HYPOXIA-INDUCIBLE FACTORS; KNOCK OUTS; MOUSE MODELS; POINT MUTATIONS; PROLYL HYDROXYLASE DOMAINS; RED CELLS; TRANSGENE;

MAMMALS;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CRE GENE; ERYTHROCYTOSIS; FEMALE; GENE; GENE LOCUS; HAPLOINSUFFICIENCY; HEMATOPOIETIC STEM CELL; HETEROZYGOTE; HIF2A GENE; HOMOZYGOTE; HUMAN; KIDNEY CELL; KIDNEY INTERSTITIUM; KNOCKOUT MOUSE; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PAX3 GENE; PHD2 GENE; POINT MUTATION; PRIORITY JOURNAL; TRANSGENE; VAV1 GENE;

MUS;

EID: 84888338062     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M113.482364     Document Type: Article

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