Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :24650283
Publication Date : //

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.


Shotgun proteomics of hereditary amyloid deposits generates all the information necessary to identify pathogenic mutant peptides and proteins. However, these mutant peptides are invisible to traditional database search strategies. We developed a two-pronged informatics workflow for detecting both known and novel amyloidogenic mutations from clinical proteomics data sets. We implemented the workflow in a CAP/CLIA certified clinical laboratory dedicated for proteomic subtyping of amyloid deposits extracted from formalin-fixed paraffin-embedded specimens. Performance of the workflow was characterized on a validation cohort of 49 hereditary amyloid samples, with confirmed mutations, and 85 controls. The sensitivity, specificity, positive predictive value, and negative predictive value of the known mutation detection workflow were determined to be 92%, 100%, 100%, and 96%, respectively. For novel mutation detection workflow, these performance parameters were 82%, 99%, 99%, and 90%, respectively. Validated workflow was applied to detect amyloidogenic mutations from a clinical cohort of 150 amyloid samples. The known mutation detection workflow detected rare frame shift mutations in apolipoprotein A1 and fibrinogen alpha amyloid deposits. The novel mutation detection workflow uncovered unanticipated mutations (W22G and C71Y) of the serum amyloid A4 protein present in patient amyloid deposits. In summary, clinical amyloid proteomics data sets contain mutant peptides of clinical significance that are recoverable with improved bioinformatics.

Authors : Dasari Surendra , Theis Jason D , Vrana Julie A , Zenka Roman M , Zimmermann Michael T , Kocher Jean-Pierre A , Highsmith W Edward , Kurtin Paul J , Dogan Ahmet ,

Related products :

Catalog number Product name Quantity
25-797 Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progr 0.05 mg
29-639 Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progr 0.1 mg
29-791 Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progr 0.1 mg
B831 Yeast Phosphate Agar USE: For isolation of dimorphic pathogenic fungi from clinical specimens. 5x500gm
B831 Yeast Phosphate Agar USE For isolation of dimorphic pathogenic fungi from clinical specimens. Qty per Litre of Medium: 21,5
B996 *Columbia C.N.A Agar USE For selective isolation of pathogenic gram_positive cocci from clinical and nonclinical specimens. Qty per Litre of Medium: 44
B997 *Columbia C.N.A Agar USE For selective isolation of pathogenic gram_positive cocci from clinical and nonclinical specimens. Qty per Litre of Medium: 39
B996 Columbia C.N.A Agar USE : For selective isolation of pathogenic gram-positive cocci from clinical and nonclinical specimens. 5x500gm
B997 Columbia C.N.A Agar USE : For selective isolation of pathogenic gram-positive cocci from clinical and nonclinical specimens. 5x500gm
28-226 Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as 0.1 mg
28-714 Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as 0.1 mg
B475 Crystal Violet Lactose Agar USE For differentiation of pure cultures of pathogenic and non pathogenic Staphylococci. Qty per Litre of Medium: 33
B475 Crystal Violet Lactose Agar USE : For differentiation of pure cultures of pathogenic and non pathogenic Staphylococci. 5x500gm
PR-727 PC4_mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10 µg
PR-727 PC4_mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10µg
PR-727 Proteins: PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivatorhuman, recombinant, E. coli 10
PR-727 PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10
PR-727 PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivatorhuman, recombinant, E. coli 10
FR 077 Realtime Fluhunter swine flu H1N1 of recent outbreak. FR077 detects only swine flu H1N1 strain of recent outbreak, not does not detect the strains of seasonal H1N1 strain, this also detects H1N2. Th 100 reactions
FR 077 Realtime Fluhunter swine flu H1N1 of recent outbreak. FR077 detects only swine flu H1N1 strain of recent outbreak, not does not detect the strains of seasonal H1N1 strain, this also detects H1N2. Th 100 reactions
CSB-RP1858Ba Recombinant Lactobacillus casei (strain ATCC 334) [Complete proteome] [HAMAP] Pyruvate kinase 500ug
CSB-RP1858Ba Recombinant Lactobacillus casei (strain ATCC 334) [Complete proteome] [HAMAP] Pyruvate kinase Source: E.coli 1mg
FR077 Realtime Fluhunter swine flu H1N1 of recent outbreak. FR077 detects only swine flu H1N1 strain of recent outbreak, not does not detect the strains of seasonal H1N1 strain, this also detects H1N2. Th 100
FR077 Realtime Fluhunter: swine flu H1N1 of recent outbreak. FR077 detects only swine flu H1N1 strain of recent outbreak, does not detect the strains of seasonal H1N1 strain, this also detects H1N2. This i 100 REACTIONS
TM 074 COLUMBIA C.N.A. AGAR BASE (Store below 8º C) (for selective isolation of gram positive cocci from clinical and non clinical samples.) 500 gm


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur | Gentaur





GENTAUR Ltd.
Unicorn House, Station Cl
Hertfordshire, Potters Bar EN6 1TL
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017
RIB 30004 00187 00010092253 10
BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG
IBAN FR76 3000 4001 8700 0100 9225 310
france@gentaur.com | Gentaur | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: +49 0241 40 08 90 86, +49 0241 95 78 94 78, +49 0241 40 08 90 86
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur | Gentaur