[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Brain;
DOI=10.1007/s004390050589; PubMed=9385373 [NCBI, ExPASy, EBI, Israel, Japan]
Campbell H.D.,
Webb G.C.,
Young I.G.;
"A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.";
Hum. Genet. 101:69-74(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Cerebellum, and Kidney;
DOI=10.1038/7777; PubMed=10192398 [NCBI, ExPASy, EBI, Israel, Japan]
Gogos J.A.,
Santha M.,
Takacs Z.,
Beck K.D.,
Luine V.,
Lucas L.R.,
Nadler J.V.,
Karayiorgou M.;
"The gene encoding proline dehydrogenase modulates sensorimotor gating in mice.";
Nat. Genet. 21:434-439(1999).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), ENZYME ACTIVITY, COFACTOR, VARIANTS VAL-83 AND ARG-437, AND CHARACTERIZATION OF VARIANTS VAL-83; TRP-101; GLN-101; MET-205; LEU-322; ASN-342; MET-343; HIS-347; PRO-357; CYS-369; SER-371; MET-382; THR-388; ARG-437 AND GLU-437.
TISSUE=Kidney;
DOI=10.1086/428142; PubMed=15662599 [NCBI, ExPASy, EBI, Israel, Japan]
Bender H.-U.,
Almashanu S.,
Steel G.,
Hu C.-A.,
Lin W.-W.,
Willis A.,
Pulver A.,
Valle D.;
"Functional consequences of PRODH missense mutations.";
Am. J. Hum. Genet. 76:409-420(2005).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
TISSUE=Brain;
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.,
Ohara O.,
Nagase T.,
Kikuno R.F.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/990031; PubMed=10591208 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham I.,
Hunt A.R.,
Collins J.E.,
Bruskiewich R.,
Beare D.M.,
Clamp M.,
Smink L.J.,
Ainscough R.,
Almeida J.P.,
Babbage A.K.,
Bagguley C.,
Bailey J.,
Barlow K.F.,
Bates K.N.,
Beasley O.P.,
Bird C.P.,
Blakey S.E.,
Bridgeman A.M.,
Buck D.,
Burgess J.,
Burrill W.D.,
Burton J.,
Carder C.,
Carter N.P.,
Chen Y.,
Clark G.,
Clegg S.M.,
Cobley V.E.,
Cole C.G.,
Collier R.E.,
Connor R.,
Conroy D.,
Corby N.R.,
Coville G.J.,
Cox A.V.,
Davis J.,
Dawson E.,
Dhami P.D.,
Dockree C.,
Dodsworth S.J.,
Durbin R.M.,
Ellington A.G.,
Evans K.L.,
Fey J.M.,
Fleming K.,
French L.,
Garner A.A.,
Gilbert J.G.R.,
Goward M.E.,
Grafham D.V.,
Griffiths M.N.D.,
Hall C.,
Hall R.E.,
Hall-Tamlyn G.,
Heathcott R.W.,
Ho S.,
Holmes S.,
Hunt S.E.,
Jones M.C.,
Kershaw J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.F.,
Leversha M.A.,
Lloyd C.,
Lloyd D.M.,
Martyn I.D.,
Mashreghi-Mohammadi M.,
Matthews L.H.,
Mccann O.T.,
Mcclay J.,
Mclaren S.,
McMurray A.A.,
Milne S.A.,
Mortimore B.J.,
Odell C.N.,
Pavitt R.,
Pearce A.V.,
Pearson D.,
Phillimore B.J.C.T.,
Phillips S.H.,
Plumb R.W.,
Ramsay H.,
Ramsey Y.,
Rogers L.,
Ross M.T.,
Scott C.E.,
Sehra H.K.,
Skuce C.D.,
Smalley S.,
Smith M.L.,
Soderlund C.,
Spragon L.,
Steward C.A.,
Sulston J.E.,
Swann R.M.,
Vaudin M.,
Wall M.,
Wallis J.M.,
Whiteley M.N.,
Willey D.L.,
Williams L.,
Williams S.A.,
Williamson H.,
Wilmer T.E.,
Wilming L.,
Wright C.L.,
Hubbard T.,
Bentley D.R.,
Beck S.,
Rogers J.,
Shimizu N.,
Minoshima S.,
Kawasaki K.,
Sasaki T.,
Asakawa S.,
Kudoh J.,
Shintani A.,
Shibuya K.,
Yoshizaki Y.,
Aoki N.,
Mitsuyama S.,
Roe B.A.,
Chen F.,
Chu L.,
Crabtree J.,
Deschamps S.,
Do A.,
Do T.,
Dorman A.,
Fang F.,
Fu Y.,
Hu P.,
Hua A.,
Kenton S.,
Lai H.,
Lao H.I.,
Lewis J.,
Lewis S.,
Lin S.-P.,
Loh P.,
Malaj E.,
Nguyen T.,
Pan H.,
Phan S.,
Qi S.,
Qian Y.,
Ray L.,
Ren Q.,
Shaull S.,
Sloan D.,
Song L.,
Wang Q.,
Wang Y.,
Wang Z.,
White J.,
Willingham D.,
Wu H.,
Yao Z.,
Zhan M.,
Zhang G.,
Chissoe S.,
Murray J.,
Miller N.,
Minx P.,
Fulton R.,
Johnson D.,
Bemis G.,
Bentley D.,
Bradshaw H.,
Bourne S.,
Cordes M.,
Du Z.,
Fulton L.,
Goela D.,
Graves T.,
Hawkins J.,
Hinds K.,
Kemp K.,
Latreille P.,
Layman D.,
Ozersky P.,
Rohlfing T.,
Scheet P.,
Walker C.,
Wamsley A.,
Wohldmann P.,
Pepin K.,
Nelson J.,
Korf I.,
Bedell J.A.,
Hillier L.W.,
Mardis E.,
Waterston R.,
Wilson R.,
Emanuel B.S.,
Shaikh T.,
Kurahashi H.,
Saitta S.,
Budarf M.L.,
McDermid H.E.,
Johnson A.,
Wong A.C.C.,
Morrow B.E.,
Edelmann L.,
Kim U.J.,
Shizuya H.,
Simon M.I.,
Dumanski J.P.,
Peyrard M.,
Kedra D.,
Seroussi E.,
Fransson I.,
Tapia I.,
Bruder C.E.,
O'Brien K.P.,
Wilkinson P.,
Bodenteich A.,
Hartman K.,
Hu X.,
Khan A.S.,
Lane L.,
Tilahun Y.,
Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT ARG-437.
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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NUCLEOTIDE SEQUENCE [MRNA] OF 360-455, AND INDUCTION BY TP53.
DOI=10.1038/38525; PubMed=9305847 [NCBI, ExPASy, EBI, Israel, Japan]
Polyak K.,
Xia Y.,
Zweier J.L.,
Kinzler K.W.,
Vogelstein B.;
"A model for p53-induced apoptosis.";
Nature 389:300-306(1997).
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[8]
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VARIANTS MET-205; HIS-347; PRO-357; CYS-369; SER-371; THR-388 AND ARG-437, AND INVOLVEMENT IN SCHIZOPHRENIA-LINKED HYPERPROLINEMIA TYPE 1.
DOI=10.1093/hmg/11.19.2243; PubMed=12217952 [NCBI, ExPASy, EBI, Israel, Japan]
Jacquet H.,
Raux G.,
Thibaut F.,
Hecketsweiler B.,
Houy E.,
Demilly C.,
Haouzir S.,
Allio G.,
Fouldrin G.,
Drouin V.,
Bou J.,
Petit M.,
Campion D.,
Frebourg T.;
"PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.";
Hum. Mol. Genet. 11:2243-2249(2002).
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[9]
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VARIANTS LEU-322; MET-343; PRO-357; CYS-369; MET-382; THR-388 AND ARG-437, AND INVOLVEMENT IN SCZD4.
DOI=10.1073/pnas.042700699; PubMed=11891283 [NCBI, ExPASy, EBI, Israel, Japan]
Liu H.,
Heath S.C.,
Sobin C.,
Roos J.L.,
Galke B.L.,
Blundell M.L.,
Lenane M.,
Robertson B.,
Wijsman E.M.,
Rapoport J.L.,
Gogos J.A.,
Karayiorgou M.;
"Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.";
Proc. Natl. Acad. Sci. U.S.A. 99:3717-3722(2002).
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[10]
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VARIANT [LARGE SCALE ANALYSIS] SER-404.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F.,
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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[11]
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VARIANTS ASN-191; HIS-347 AND ASP-360.
DOI=10.1093/hmg/ddl443; PubMed=17135275 [NCBI, ExPASy, EBI, Israel, Japan]
Raux G.,
Bumsel E.,
Hecketsweiler B.,
van Amelsvoort T.,
Zinkstok J.,
Manouvrier-Hanu S.,
Fantini C.,
Breviere G.-M.M.,
Di Rosa G.,
Pustorino G.,
Vogels A.,
Swillen A.,
Legallic S.,
Bou J.,
Opolczynski G.,
Drouin-Garraud V.,
Lemarchand M.,
Philip N.,
Gerard-Desplanches A.,
Carlier M.,
Philippe A.,
Nolen M.C.,
Heron D.,
Sarda P.,
Lacombe D.,
Coizet C.,
Alembik Y.,
Layet V.,
Afenjar A.,
Hannequin D.,
Demily C.,
Petit M.,
Thibaut F.,
Frebourg T.,
Campion D.;
"Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.";
Hum. Mol. Genet. 16:83-91(2007).
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