[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT). PubMed=3515319
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Persico
M.G., Viglietto
G., Martini
G., Toniolo
D., Paonessa
G., Moscatelli
C., Dono
R., Vulliamy
T.J., Luzzatto
L., D'Urso
M.; "Isolation of human glucose-6-phosphate dehydrogenase
(G6PD) cDNA clones: primary structure of the protein and unusual 5'
non-coding region."; Nucleic
Acids Res. 14:2511-2522(1986).
|
[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM
SHORT). PubMed=2428611 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Martini
G., Toniolo
D., Vulliamy
T., Luzzatto
L., Dono
R., Viglietto
G., Paonessa
G., D'Urso
M., Persico
M.G.; "Structural analysis of the X-linked gene encoding
human glucose 6-phosphate dehydrogenase."; EMBO J.
5:1849-1855(1986).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM
SHORT). PubMed=1889820 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Chen
E.Y., Cheng
A., Lee
A., Kuang
W., Hillier
L., Green
P., Schlessinger
D., Ciccodicola
A., D'Urso
M.; "Sequence of human glucose-6-phosphate dehydrogenase
cloned in plasmids and a yeast artificial chromosome."; Genomics
10:792-800(1991).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT). DOI=10.1093/hmg/5.5.659;
PubMed=8733135 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Chen
E.Y., Zollo
M., Mazzarella
R.A., Ciccodicola
A., Chen
C.-N., Zuo
L., Heiner
C., Burough
F.W., Ripetto
M., Schlessinger
D., D'Urso
M.; "Long-range sequence analysis in Xq28: thirteen known and
six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP
and G6PD loci."; Hum.
Mol. Genet. 5:659-668(1996).
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[5]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT). Galgoczy
P., Platzer
M.; Submitted (MAR-2003) to the EMBL/GenBank/DDBJ
databases.
|
[6]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM
SHORT). TISSUE=Lung; DOI=10.1073/pnas.242603899;
PubMed=12477932 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Strausberg
R.L., Feingold
E.A., Grouse
L.H., Derge
J.G., Klausner
R.D., Collins
F.S., Wagner
L., Shenmen
C.M., Schuler
G.D., Altschul
S.F., Zeeberg
B., Buetow
K.H., Schaefer
C.F., Bhat
N.K., Hopkins
R.F., Jordan
H., Moore
T., Max
S.I., Wang
J., Hsieh
F., Diatchenko
L., Marusina
K., Farmer
A.A., Rubin
G.M., Hong
L., Stapleton
M., Soares
M.B., Bonaldo
M.F., Casavant
T.L., Scheetz
T.E., Brownstein
M.J., Usdin
T.B., Toshiyuki
S., Carninci
P., Prange
C., Raha
S.S., Loquellano
N.A., Peters
G.J., Abramson
R.D., Mullahy
S.J., Bosak
S.A., McEwan
P.J., McKernan
K.J., Malek
J.A., Gunaratne
P.H., Richards
S., Worley
K.C., Hale
S., Garcia
A.M., Gay
L.J., Hulyk
S.W., Villalon
D.K., Muzny
D.M., Sodergren
E.J., Lu
X., Gibbs
R.A., Fahey
J., Helton
E., Ketteman
M., Madan
A., Rodrigues
S., Sanchez
A., Whiting
M., Madan
A., Young
A.C., Shevchenko
Y., Bouffard
G.G., Blakesley
R.W., Touchman
J.W., Green
E.D., Dickson
M.C., Rodriguez
A.C., Grimwood
J., Schmutz
J., Myers
R.M., Butterfield
Y.S.N., Krzywinski
M.I., Skalska
U., Smailus
D.E., Schnerch
A., Schein
J.E., Jones
S.J.M.
, Marra
M.A.; "Generation and initial analysis of more than 15,000
full-length human and mouse cDNA sequences."; Proc.
Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
|
[7]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 1-70. DOI=10.1016/0092-8674(89)90440-6;
PubMed=2758468 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Kanno
H., Huang
I.Y., Kan
Y.W., Yoshida
A.; "Two structural genes on different chromosomes are
required for encoding the major subunit of human red cell
glucose-6-phosphate dehydrogenase."; Cell
58:595-606(1989).
|
[8]
|
NUCLEOTIDE SEQUENCE OF 1-70. PubMed=8466644
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Kanno
H., Kondoh
T., Yoshida
A.; "5' structure and expression of human glucose-6-phosphate
dehydrogenase mRNA."; DNA Cell Biol. 12:209-215(1993).
|
[9]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-40. DOI=10.1016/0378-1119(91)90078-P;
PubMed=1874446 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Toniolo
D., Filippi
M., Dono
R., Lettieri
T., Martini
G.; "The CpG island in the 5' region of the G6PD gene of man
and mouse."; Gene 102:197-203(1991).
|
[10]
|
PROTEIN SEQUENCE OF 1-8. TISSUE=Platelet; DOI=10.1038/nbt810;
PubMed=12665801 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Gevaert
K., Goethals
M., Martens
L., Van
Damme J., Staes
A., Thomas
G.R., Vandekerckhove
J.; "Exploring proteomes and analyzing protein processing by
mass spectrometric identification of sorted N-terminal
peptides."; Nat. Biotechnol. 21:566-569(2003).
|
[11]
|
NUCLEOTIDE SEQUENCE OF 40-514
(ISOFORM SHORT), AND VARIANTS MET-67 AND ASP-125. PubMed=12524354
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Saunders
M.A., Hammer
M.F., Nachman
M.W.; "Nucleotide variability at G6pd and the signature of
malarial selection in humans."; Genetics
162:1849-1861(2002).
|
[12]
|
NUCLEOTIDE SEQUENCE OF 153-514
(ISOFORM SHORT). PubMed=3012556 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Takizawa
T., Huang
I.-Y., Ikuta
T., Yoshida
A.; "Human glucose-6-phosphate dehydrogenase: primary
structure and cDNA cloning."; Proc.
Natl. Acad. Sci. U.S.A. 83:4157-4161(1986).
|
[13]
|
PROTEIN SEQUENCE OF 198-214. PubMed=3126064
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Camardella
L., Caruso
C., Rutigliano
B., Romano
M., di
Prisco G., Descalzi-Cancedda
F.; "Human erythrocyte glucose-6-phosphate dehydrogenase.
Identification of a reactive lysyl residue labelled with pyridoxal
5'-phosphate."; Eur. J. Biochem. 171:485-489(1988).
|
[14]
|
PROTEIN SEQUENCE OF 508-514. PubMed=6696761
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Descalzi-Cancedda
F., Caruso
C., Romano
M., di
Prisco G., Camardella
L.; "Amino acid sequence of the carboxy-terminal end of human
erythrocyte glucose-6-phosphate dehydrogenase."; Biochem.
Biophys. Res. Commun. 118:332-338(1984).
|
[15]
|
ALTERNATIVE SPLICING. PubMed=2910917 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Hirono
A., Beutler
E.; "Alternative splicing of human glucose-6-phosphate
dehydrogenase messenger RNA in different tissues."; J. Clin.
Invest. 83:343-346(1989).
|
[16]
|
ACETYLATION SITE ALA-1, AND MASS SPECTROMETRY. PubMed=7857286
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Camardella
L., Damonte
G., Carratore
V., Benatti
U., Tonetti
M., Moneti
G.; "Glucose 6-phosphate dehydrogenase from human
erythrocytes: identification of N-acetyl-alanine at the N-terminus
of the mature protein."; Biochem.
Biophys. Res. Commun. 207:331-338(1995).
|
[17]
|
REVIEW ON VARIANTS. PubMed=8364584 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Vulliamy
T., Beutler
E., Luzzatto
L.; "Variants of glucose-6-phosphate dehydrogenase are due to
missense mutations spread throughout the coding region of the
gene."; Hum. Mutat. 2:159-167(1993).
|
[18]
|
PHOSPHORYLATION SITE TYR-400, AND MASS SPECTROMETRY. DOI=10.1038/nbt1046;
PubMed=15592455 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Rush
J., Moritz
A., Lee
K.A., Guo
A., Goss
V.L., Spek
E.J., Zhang
H., Zha
X.-M., Polakiewicz
R.D., Comb
M.J.; "Immunoaffinity profiling of tyrosine phosphorylation
in cancer cells."; Nat. Biotechnol. 23:94-101(2005).
|
[19]
|
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF VARIANT CANTON IN
COMPLEX WITH NADP, AND HOMOTETRAMERIZATION. DOI=10.1016/S0969-2126(00)00104-0;
PubMed=10745013 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Au
S.W., Gover
S., Lam
V.M., Adams
M.J.; "Human glucose-6-phosphate dehydrogenase: the crystal
structure reveals a structural NADP(+) molecule and provides
insights into enzyme deficiency."; Structure
8:293-303(2000).
|
[20]
|
REVIEW ON VARIANTS. DOI=10.1002/humu.10036;
PubMed=11857737 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Kwok
C.J., Martin
A.C., Au
S.W., Lam
V.M.; "G6PDdb, an integrated database of glucose-6-phosphate
dehydrogenase (G6PD) mutations."; Hum. Mutat.
19:217-224(2002).
|
[21]
|
VARIANT A(+) ASP-125. PubMed=3446582 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Takizawa
T., Yoneyama
Y., Miwa
S., Yoshida
A.; "A single nucleotide base transition is the basis of the
common human glucose-6-phosphate dehydrogenase variant A
(+)."; Genomics 1:228-231(1987).
|
[22]
|
VARIANT A(-) MET-67. PubMed=2836867 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Hirono
A., Beutler
E.; "Molecular cloning and nucleotide sequence of cDNA for
human glucose-6-phosphate dehydrogenase variant A(-)."; Proc.
Natl. Acad. Sci. U.S.A. 85:3951-3954(1988).
|
[23]
|
VARIANTS. PubMed=3393536 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Vulliamy
T.J., D'Urso
M., Battistuzzi
G., Estrada
M., Foulkes
N.S., Martini
G., Calabro
V., Poggi
V., Giordano
R., Town
M., Luzzatto
L., Persico
M.G.; "Diverse point mutations in the human
glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and
mild or severe hemolytic anemia."; Proc.
Natl. Acad. Sci. U.S.A. 85:5171-5175(1988).
|
[24]
|
VARIANTS GLN-226 AND SER-352, AND VARIANTS CNSHA CYS-386;
LEU-393; ASP-409 AND PRO-438. PubMed=1611091 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Beutler
E., Westwood
B., Prchal
J.T., Vaca
C.S., Bartsocas
C.S., Baronciani
L.; "New glucose-6-phosphate dehydrogenase mutations from
various ethnic groups."; Blood
80:255-256(1992).
|
[25]
|
VARIANTS SASSARI/CAGLIARI PHE-187 AND SEATTLE
HIS-281. PubMed=2912069 [NCBI,
ExPASy,
EBI,
Israel,
Japan] de
Vita G., Alcalay
M., Sampietro
M., Cappelini
M.D., Fiorelli
G., Toniolo
D.; "Two point mutations are responsible for G6PD
polymorphism in Sardinia."; Am. J. Hum. Genet.
44:233-240(1989).
|
[26]
|
VARIANT CSNA ARG-31. PubMed=1945893 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Chao
L.T., Du
C.S., Louie
E., Zuo
L., Chen
E., Lubin
B., Chiu
D.T.; "A to G substitution identified in exon 2 of the G6PD
gene among G6PD deficient Chinese."; Nucleic
Acids Res. 19:6056-6056(1991).
|
[27]
|
VARIANT NASHVILLE/ANAHEIM HIS-392. PubMed=1536798 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Filosa
S., Calabro
V., Vallone
D., Poggi
V., Mason
P., Pagnini
D., Alfinito
F., Rotoli
B., Martini
G., Luzzatto
L., Battistuzzi
G.; "Molecular basis of chronic non-spherocytic haemolytic
anaemia: a new G6PD variant (393arg-to-his) with abnormal K(m) G6P
and marked in vivo instability."; Br. J. Haematol.
80:111-116(1992).
|
[28]
|
VARIANT CHINESE-2/MAEWO CYS-453. PubMed=1303180 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Perng
L.-I., Chiou
S.-S., Liu
T.-C., Chang
J.-G.; "A novel C to T substitution at nucleotide 1360 of
cDNA which abolishes a natural Hha I site accounts for a new G6PD
deficiency gene in Chinese."; Hum.
Mol. Genet. 1:205-205(1992).
|
[29]
|
VARIANT KALYAN/KERALA LYS-316. PubMed=1303182 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Ahluwalia
A., Corcoran
C.M., Vulliamy
T.J., Ishwad
C.S., Naidu
J.M., Stevens
D.J., Mason
P.J., Luzzatto
L.; "G6PD Kalyan and G6PD Kerala; two deficient variants in
India caused by the same 317 Glu-->Lys mutation."; Hum.
Mol. Genet. 1:209-210(1992).
|
[30]
|
VARIANT AURES THR-47. PubMed=8490627 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Nafa
K., Reghis
A., Osmani
N., Baghli
L., Benabadji
M., Kaplan
J.-C., Vulliamy
T.J., Luzzatto
L.; "G6PD Aures: a new mutation (48 Ile-->Thr) causing
mild G6PD deficiency is associated with favism."; Hum.
Mol. Genet. 2:81-82(1993).
|
[31]
|
VARIANT SHINSHU GLY-175. PubMed=8193373 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Hirono
A., Miwa
S., Fujii
H., Ishida
F., Yamada
K., Kubota
K.; "Molecular study of eight Japanese cases of
glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic
single-strand conformation polymorphism analysis."; Blood
83:3363-3368(1994).
|
[32]
|
VARIANT BARI LEU-395. DOI=10.1007/BF00211027;
PubMed=7959695 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Filosa
S., Cai
W., Galanello
R., Cao
A., de
Mattia D., Schettini
F., Martini
G.; "A novel single-base mutation in the glucose 6-phosphate
dehydrogenase gene is associated with chronic non-spherocytic
haemolytic anaemia."; Hum. Genet. 94:560-562(1994).
|
[33]
|
VARIANTS NAMORU; VANUA LAVA; NAONE AND UNION. PubMed=7825590
[NCBI,
ExPASy,
EBI,
Israel,
Japan] Ganczakowski
M., Town
M., Bowden
D.K., Vulliamy
T.J., Kaneko
A., Clegg
J.B., Weatherall
D.J., Luzzatto
L.; "Multiple glucose 6-phosphate dehydrogenase-deficient
variants correlate with malaria endemicity in the Vanuatu
archipelago (southwestern Pacific)."; Am. J. Hum. Genet.
56:294-301(1995).
|
[34]
|
VARIANT ORISSA GLY-43. PubMed=8533762 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Kaeda
J.S., Chhotray
G.P., Ranjit
M.R., Bautista
J.M., Reddy
P.H., Stevens
D., Naidu
J.M., Britt
R.P., Vulliamy
T.J., Luzzatto
L., Mason
P.J.; "A new glucose-6-phosphate dehydrogenase variant, G6PD
Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal
populations in India."; Am. J. Hum. Genet.
57:1335-1341(1995).
|
[35]
|
VARIANTS SWANSEA PRO-74; PLYMOUTH ASP-162; CORUM LYS-273 AND
WEXHAM PHE-277. PubMed=7858267 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Mason
P.J., Sonati
M.F., Macdonald
D., Lanza
C., Busutil
D., Town
M., Corcoran
C.M., Kaeda
J.S., Stevens
D.J., Al-Ismail
S., Altay
C., Hatton
C., Lewis
D.S., McMullin
M.F., Meloni
T., Paul
B., Pippard
M., Prentice
A.G., Vulliamy
T.J., Luzzatto
L.; "New glucose-6-phosphate dehydrogenase mutations
associated with chronic anemia."; Blood
85:1377-1380(1995).
|
[36]
|
VARIANTS MOUNT SINAI ASP-125 AND CYS-386. PubMed=9452072 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Vlachos
A., Westwood
B., Lipton
J.M., Beutler
E.; "G6PD Mount Sinai: a new severe hemolytic variant
characterized by dual mutations at nucleotides 376G and 1159T
(N126D)."; Hum. Mutat. Suppl. 1:S154-S155(1998).
|
[37]
|
VARIANT SINNAI LEU-11. DOI=10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.3.CO;2-K;
PubMed=10627140 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Galanello
R., Loi
D., Sollaino
C., Dessi
S., Cao
A., Melis
M.A.; "A new glucose 6 phosphate dehydrogenase variant, G6PD
Sinnai (34 G->T)."; Hum. Mutat. 12:72-73(1998).
|
[38]
|
VARIANT REHOVOT HIS-321. DOI=10.1006/bcmd.2000.0334;
PubMed=11112389 [NCBI,
ExPASy,
EBI,
Israel,
Japan] Iancovici-Kidon
M., Sthoeger
D., Abrahamov
A., Volach
B., Beutler
E., Gelbart
T., Barak
Y.; "A new exon 9 glucose-6-phosphate dehydrogenase mutation
(G6PD 'Rehovot') in a Jewish Ethiopian family with variable
phenotypes."; Blood
Cells Mol. Dis. 26:567-571(2000).
| |