NF1 ELISA Kit for Human(Homo sapiens) | EIAab.comNF1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > NF1(Gene name) > Human

NF1 (Gene name),

Neurofibromin (Protein name ), NF1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

NF1;

Protein name:

Neurofibromin;

Alternative:

Neurofibromatosis-related protein NF-1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Subcellular Location:

N/A

Protein Attributes:

Sequence length:

2839

Sequence:

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2800:

2839:

LSPTTGHCNS | GRTRHGSASQ | VQKQRSAGSF | KRNSIKKIV

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

Pfam:

PF00616

Pfam:

PF13716

UniGene:

Hs.113577

KEGG:

hsa:4763

String:

P21359

MIM:

114500

STRING:

9606.ENSP00000351015

SMR:

P21359

Uniprot:

P21359

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ELISA Kit for Human Neurofibromin

Cat.:

E8710h

Price:

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Manual:

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MSDS:

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Packing:

96T

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ELISA Kit for Human Neurofibromin

MSDS:

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ELISA Kit for Human Neurofibromin

Cat.:

E8710m

Price:

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MSDS:

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Packing:

96T

ELISA Kit for Human Neurofibromin

Cat.:

E8710r

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MSDS:

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Packing:

96T

CLIA Kit for Human Neurofibromin

Cat.:

U8710m

Price:

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MSDS:

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Packing:

96T

CLIA Kit for Human Neurofibromin

MSDS:

Please sign in first.

CLIA Kit for Human Neurofibromin

Cat.:

U8710h

Price:

Please sign in first.

Manual:

Looking for manual.

MSDS:

Please sign in first.

Packing:

96T

Range:

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CLIA Kit for Human Neurofibromin

Cat.:

U8710r

Price:

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MSDS:

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Packing:

96T

Polyclonal Antibody for Human Neurofibromin

Cat.:

P8710Rb-h

Price:

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Neurofibromin

Cat.:

P8710Rb-m

Price:

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Neurofibromin

Protein for Human Neurofibromin

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

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References

1.

"Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing."
Messiaen L.M. , Callens T. , Roux K.J. , Mortier G.R. , De Paepe A. , Abramowicz M. , Pericak-Vance M.A. , Vance J.M. , Wallace M.R.
Genet. Med.1:248-253(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 PRO-508
2.

"Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line."
Bernards A. , Haase V.H. , Murthy A.E. , Menon A. , Hannigan G.E. , Gusella J.F.
DNA Cell Biol.11:727-734(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2)
3.

"Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients."
Wallace M.R. , Marchuk D.A. , Andersen L.B. , Letcher R. , Odeh H.M. , Saulino A.M. , Fountain J.W. , Brereton A. , Nicholson J. , Mitchell A.L. , Brownstein B.H. , Collins F.S.
Science249:181-186(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
4.

Wallace M.R. , Marchuk D.A. , Andersen L.B. , Letcher R. , Odeh H.M. , Saulino A.M. , Fountain J.W. , Brereton A. , Nicholson J. , Mitchell A.L. , Brownstein B.H. , Collins F.S.
Science250:1749-1749(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
5.

"cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product."
Marchuk D.A. , Saulino A.M. , Tavakkol R. , Swaroop M. , Wallace M.R. , Andersen L.B. , Mitchell A.L. , Gutmann D.H. , Boguski M.S. , Collins F.S.
Genomics11:931-940(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
6.

"Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein."
Suzuki H. , Takahashi K. , Kubota Y. , Shibahara S.
Biochem. Biophys. Res. Commun.187:984-990(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3);ALTERNATIVE SPLICING
tissue: Placenta.
7.

"Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1."
Suzuki H. , Takahashi K. , Shibahara S.
Tohoku J. Exp. Med.175:225-233(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5)
tissue: Kidney.
8.

NIEHS SNPs program
Submitted (2004-11) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS CYS-80; LEU-678; HIS-1422 AND LEU-2511
9.

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C. , Garber M. , Adams D.J. , Sharpe T. , Harrow J. , Lupski J.R. , Nicholson C. , Searle S.M. , Wilming L. , Young S.K. , Abouelleil A. , Allen N.R. , Bi W. , Bloom T. , Borowsky M.L. , Bugalter B.E. , Butler J. , Chang J.L. , more...
Nature440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
10.

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
11.

"A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations."
Cawthon R.M. , Weiss R. , Xu G. , Viskochil D. , Culver M. , Stevens J. , Robertson M. , Dunn D. , Gesteland R. , O'Connell P. , White R.
Cell62:193-201(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 335-2839 (ISOFORM 1);VARIANT NF1 PRO-1953
12.

"The neurofibromatosis type 1 gene encodes a protein related to GAP."
Xu G. , O'Connell P. , Viskochil D. , Cawthon R.M. , Robertson M. , Culver M. , Dunn D. , Stevens J. , Gesteland R. , White R. , Weiss R.
Cell62:599-608(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 335-2839 (ISOFORMS 1 AND 6)
13.

"Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition."
Regnier V. , Meddeb M. , Lecointre G. , Richard F. , Duverger A. , Nguyen V.C. , Dutrillaux B. , Bernheim A. , Danglot G.
Hum. Mol. Genet.6:9-16(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 707-782
14.

"Genomic organization of the neurofibromatosis 1 gene (NF1)."
Li Y. , O'Connell P. , Breidenbach H.H. , Cawthon R.M. , Stevens J. , Xu G. , Neil S. , Robertson M. , White R. , Viskochil D.
Genomics25:9-18(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 751-1611 (ISOFORMS 1 AND 2)
15.

"The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21."
Martin G.A. , Viskochil D. , Bollag G. , McCabe P.C. , Crosier W.J. , Haubruck H. , Conroy L. , Clark R. , O'Connell P. , Cawthon R.M. , Innis M. , McCormick F.
Cell63:843-849(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1090-1598 (ISOFORM 4)
16.

"Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation."
Nishi T. , Lee P.S. , Oka K. , Levin V.A. , Tanase S. , Morino Y. , Saya H.
Oncogene6:1555-1559(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1168-1566 (ISOFORMS 1 AND 2)
17.

"A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity."
Andersen L.B. , Ballester R. , Marchuk D.A. , Chang E. , Gutmann D.H. , Saulino A.M. , Camonis J. , Wigler M. , Collins F.S.
Mol. Cell. Biol.13:487-495(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1371-1391 (ISOFORM 2);FUNCTION;TISSUE SPECIFICITY
18.

"Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain."
Suzuki Y. , Suzuki H. , Kayama T. , Yoshimoto T. , Shibahara S.
Biochem. Biophys. Res. Commun.181:955-961(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1371-1391 (ISOFORM 2)
19.

"The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins."
Ballester R. , Marchuk D.A. , Boguski M.S. , Saulino A.M. , Letcher R. , Wigler M. , Collins F.S.
Cell63:851-859(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
20.

"The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing."
Skuse G.R. , Cappione A.J. , Sowden M. , Metheny L.J. , Smith H.C.
Nucleic Acids Res.24:478-485(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: RNA EDITING
21.

"C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme."
Mukhopadhyay D. , Anant S. , Lee R.M. , Kennedy S. , Viskochil D. , Davidson N.O.
Am. J. Hum. Genet.70:38-50(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: RNA EDITING
22.

"Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene."
Upadhyaya M. , Shaw D.J. , Harper P.S.
Hum. Mutat.4:83-101(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
23.

"Molecular genetics of neurofibromatosis type 1 (NF1)."
Shen M.H. , Harper P.S. , Upadhyaya M.
J. Med. Genet.33:2-17(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
24.

"Neurofibromin is actively transported to the nucleus."
Vandenbroucke I. , Van Oostveldt P. , Coene E. , De Paepe A. , Messiaen L.
FEBS Lett.560:98-102(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;NUCLEAR LOCALIZATION SIGNAL
25.

"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T. , Yi W. , Lu B. , Park S.K. , Xu T. , Lee J.-D. , Yates J.R. III
J. Proteome Res.7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
26.

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
Mol. Cell31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
27.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864; SER-2188; SER-2515; SER-2521 AND SER-2543;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
28.

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
29.

"Large-scale proteomics analysis of the human kinome."
Oppermann F.S. , Gnad F. , Olsen J.V. , Hornberger R. , Greff Z. , Keri G. , Mann M. , Daub H.
Mol. Cell. Proteomics8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
30.

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
Sci. Signal.2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864; SER-876 AND SER-2515;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Leukemic T-cell.
31.

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864 AND SER-2817;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
32.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
33.

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2543 AND SER-2817;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
34.

"5-HT(6) receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia."
Meffre J. , Chaumont-Dubel S. , Mannoury la Cour C. , Loiseau F. , Watson D.J. , Dekeyne A. , Seveno M. , Rivet J.M. , Gaven F. , Deleris P. , Herve D. , Fone K.C. , Bockaert J. , Millan M.J. , Marin P.
EMBO Mol. Med.4:1043-1056(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH HTR6
35.

"Structural analysis of the GAP-related domain from neurofibromin and its implications."
Scheffzek K. , Ahmadian M.R. , Wiesmuller L. , Kabsch W. , Stege P. , Schmitz F. , Wittinghofer A.
EMBO J.17:4313-4327(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 1198-1551
36.

"A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein."
D'Angelo I. , Welti S. , Bonneau F. , Scheffzek K.
EMBO Rep.7:174-179(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 1581-1837;LIPID-BINDING;DOMAIN;MUTAGENESIS OF LYS-1691; ARG-1695; ARG-1769 AND LYS-1771
37.

"The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex."
Welti S. , Fraterman S. , D'Angelo I. , Wilm M. , Scheffzek K.
J. Mol. Biol.366:551-562(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 1566-1837 IN COMPLEX WITH PHOSPHOLIPID;LIPID-BINDING;DOMAIN
38.

"Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin."
Welti S. , Kuhn S. , D'Angelo I. , Brugger B. , Kaufmann D. , Scheffzek K.
Hum. Mutat.32:191-197(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.19 ANGSTROMS) OF 1581-1837 OF VARIANT NF1 VAL-1605 AND MUTANT LYS-1771 DEL IN COMPLEX WITH LIPID;CHARACTERIZATION OF VARIANT NF1 VAL-1605;MUTAGENESIS OF LYS-1771;LIPID-BINDING;DOMAIN
39.

"Somatic mutations in the neurofibromatosis 1 gene in human tumors."
Li Y. , Bollag G. , Clark R. , Stevens J. , Conroy L. , Fults D. , Ward K. , Friedman E. , Samowitz W. , Robertson M. , Bradley P. , McCormick F. , White R. , Cawthon R.M.
Cell69:275-281(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLU-1444
40.

"Analysis of mutations at the neurofibromatosis 1 (NF1) locus."
Upadhyaya M. , Shen M.H. , Cherryson A. , Farnham J. , Maynard J. , Huson S.M. , Harper P.S.
Hum. Mol. Genet.1:735-740(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 MET-2164 AND ASN-2192
41.

"Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome."
Tassabehji M. , Strachan T. , Sharland M. , Colley A. , Donnai D. , Harris R. , Thakker N.
Am. J. Hum. Genet.53:90-95(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLY-HIS-GLU-GLN-GLN-LYS-LEU-PRO-ALA-ALA-THR-LEU-ALA-LEU-1733 INS
42.

"Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels."
Shen M.H. , Harper P.S. , Upadhyaya M.
Hum. Mol. Genet.2:1861-1864(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MET-991 DEL
43.

"Characterisation of inherited and sporadic mutations in neurofibromatosis type-1."
Purandare S.M. , Lanyon W.G. , Connor J.M.
Hum. Mol. Genet.3:1109-1115(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 ASP-1166 AND ARG-1440
44.

"Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene."
Abernathy C.R. , Colman S.D. , Kousseff B.G. , Wallace M.R.
Hum. Mutat.3:347-352(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 2387-ASN-PHE-2388 DEL
45.

"Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene."
Upadhyaya M. , Maynard J. , Osborn M.J. , Huson S.M. , Ponder M. , Ponder B.A.J. , Harper P.S.
J. Med. Genet.32:706-710(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 ALA-2631
46.

"Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms."
Gasparini P. , D'Agruma L. , de Cillis G.P. , Balestrazzi P. , Mingarelli R. , Zelante L.
Hum. Genet.97:492-495(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 ARG-629
47.

"Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome."
Wu R. , Legius E. , Robberecht W. , Dumoulin M. , Cassiman J.-J. , Fryns J.-P.
Hum. Mutat.8:51-56(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 ARG-1035
48.

"Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene."
Upadhyaya M. , Osborn M.J. , Maynard J. , Kim M.R. , Tamanoi F. , Cooper D.N.
Hum. Genet.99:88-92(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 SER-1412; GLN-1440; GLU-1444 AND GLY-1489
49.

"Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene."
Maynard J. , Krawczak M. , Upadhyaya M.
Hum. Genet.99:674-676(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 ARG-844 AND PRO-898
50.

"Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene."
Hudson J. , Wu C.L. , Tassabehji M. , Summers E.M. , Simon S. , Super M. , Donnai D. , Thakker N.
Hum. Mutat.9:366-367(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 ARG-1952
51.

"Six novel mutations in the neurofibromatosis type 1 (NF1) gene."
Upadhyaya M. , Maynard J. , Osborn M.J. , Harper P.S.
Hum. Mutat.10:248-250(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 GLY-338 AND TRP-1611
52.

"Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)."
Klose A. , Ahmadian M.R. , Schuelke M. , Scheffzek K. , Hoffmeyer S. , Gewies A. , Schmitz F. , Kaufmann D. , Peters H. , Wittinghofer A. , Nuernberg P.
Hum. Mol. Genet.7:1261-1268(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 PRO-1276
53.

"Analysis of CpG C-to-T mutations in neurofibromatosis type 1."
Krkljus S. , Abernathy C.R. , Johnson J.S. , Williams C.A. , Driscoll D.J. , Zori R. , Stalker H.J. , Rasmussen S.A. , Collins F.S. , Kousseff B.G. , Baumbach L. , Wallace M.R.
Hum. Mutat.11:411-411(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 GLY-1204;VARIANT HIS-765
54.

"A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE)."
Peters H. , Hess D. , Fahsold R. , Schuelke M.
Hum. Mutat.13:337-337(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 PRO-1446
55.

"Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain."
Fahsold R. , Hoffmeyer S. , Mischung C. , Gille C. , Ehlers C. , Kuecuekceylan N. , Abdel-Nour M. , Gewies A. , Peters H. , Kaufmann D. , Buske A. , Tinschert S. , Nuernberg P.
Am. J. Hum. Genet.66:790-818(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 PRO-216; PRO-357; CYS-491; PRO-549; THR-581; ARG-583; PHE-665; PRO-695; PRO-763; SER-777; LYS-780; PRO-781; PRO-847; SER-1156; PRO-1250; GLN-1276; PRO-1276; PRO-1446; VAL-1605 AND ILE-2507;VARIANT GLU-176
56.

"Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1."
Ars E. , Serra E. , Garcia J. , Kruyer H. , Gaona A. , Lazaro C. , Estivill X.
Hum. Mol. Genet.9:237-247(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 SER-117; TRP-1204; PRO-1446 AND 2387-ASN-PHE-2388 DEL
57.

Ars E. , Serra E. , Garcia J. , Kruyer H. , Gaona A. , Lazaro C. , Estivill X.
Hum. Mol. Genet.9:659-659(2000)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
58.

"NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1."
Boulandet E.G. , Pantel J. , Cazeneuve C. , Van Gijn M. , Vidaud D. , Lemay S. , Martin J. , Zeller J. , Revuz J. , Goossens M. , Amselem S. , Wolkenstein P.
Hum. Mutat.16:274-275(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 PHE-844
59.

"Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene."
Kaufmann D. , Mueller R. , Bartelt B. , Wolf M. , Kunzi-Rapp K. , Hanemann C.O. , Fahsold R. , Hein C. , Vogel W. , Assum G.
Am. J. Hum. Genet.69:1395-1400(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SPINAL FSNF PRO-2088
60.

"Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene."
Han S.S. , Cooper D.N. , Upadhyaya M.N.
Hum. Genet.109:487-497(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 LYS-780; CYS-784; PRO-1147; CYS-1193; ARG-1444; SER-1785; ASN-2012 AND LYS-2357
61.

"NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas."
Kluwe L. , Friedrich R.E. , Korf B. , Fahsold R. , Mautner V.-F.
Hum. Mutat.19:309-309(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 PHE-82; ARG-784 AND GLU-1444
62.

"Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS)."
Baralle D. , Mattocks C. , Kalidas K. , Elmslie F. , Whittaker J. , Lees M. , Ragge N. , Patton M.A. , Winter R.M. , ffrench-Constant C.
Am. J. Med. Genet. A119:1-8(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NFNS GLU-1459 DEL
63.

"Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type."
Wang Q. , Montmain G. , Ruano E. , Upadhyaya M. , Dudley S. , Liskay R.M. , Thibodeau S.N. , Puisieux A.
Hum. Genet.112:117-123(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 TYR-93; VAL-604; ARG-844 AND PRO-898;VARIANTS ASP-74; GLU-176; ARG-712 AND GLN-1276
64.

"NF1 gene analysis based on DHPLC."
De Luca A. , Buccino A. , Gianni D. , Mangino M. , Giustini S. , Richetta A. , Divona L. , Calvieri S. , Mingarelli R. , Dallapiccola B.
Hum. Mutat.21:171-172(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 LYS-780; PRO-847; GLU-848 AND ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001
65.

"NF1 mutations and clinical spectrum in patients with spinal neurofibromas."
Kluwe L. , Tatagiba M. , Fuensterer C. , Mautner V.F.
J. Med. Genet.40:368-371(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 ARG-578; PRO-920 AND ALA-2221
66.

"Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1."
Zatkova A. , Messiaen L. , Vandenbroucke I. , Wieser R. , Fonatsch C. , Krainer A.R. , Wimmer K.
Hum. Mutat.24:491-501(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 VAL-186;CHARACTERIZATION OF VARIANT NF1 VAL-186
67.

"Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1."
De Luca A. , Schirinzi A. , Buccino A. , Bottillo I. , Sinibaldi L. , Torrente I. , Ciavarella A. , Dottorini T. , Porciello R. , Giustini S. , Calvieri S. , Dallapiccola B.
Hum. Mutat.23:629-629(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 ASN-157; ARG-629; SER-777; LYS-780; ARG-784; PRO-847; GLU-848; ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001;VARIANT GLU-176
68.

"Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain."
Mattocks C. , Baralle D. , Tarpey P. , ffrench-Constant C. , Bobrow M. , Whittaker J.
J. Med. Genet.41:E48-E48(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 ARG-31; PRO-145; ARG-324; VAL-337; CYS-489; PRO-532; ARG-574; ARG-629; PHE-665; PHE-844; PRO-844; MET-991 DEL; VAL-1073; ARG-1196; GLY-1276; GLN-1276; GLU-1430; GLU-1459 DEL AND GLY-1489;VARIANTS GLU-176 AND CYS-873
69.

"Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)."
Ferner R.E. , Hughes R.A.C. , Hall S.M. , Upadhyaya M. , Johnson M.R.
J. Med. Genet.41:837-841(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 PRO-1243
70.

"Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient."
Bertola D.R. , Pereira A.C. , Passetti F. , de Oliveira P.S.L. , Messiaen L. , Gelb B.D. , Kim C.A. , Krieger J.E.
Am. J. Med. Genet. A136:242-245(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 ARG-844
71.

"NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome."
De Luca A. , Bottillo I. , Sarkozy A. , Carta C. , Neri C. , Bellacchio E. , Schirinzi A. , Conti E. , Zampino G. , Battaglia A. , Majore S. , Rinaldi M.M. , Carella M. , Marino B. , Pizzuti A. , Digilio M.C. , Tartaglia M. , Dallapiccola B.
Am. J. Hum. Genet.77:1092-1101(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NFNS ARG-194; GLU-1444; THR-1451; LEU-1453 AND GLU-1459 DEL
72.

"The consensus coding sequences of human breast and colorectal cancers."
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. , more...
Science314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-1187; LEU-1951 AND ARG-2745
73.

"Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1."
Nystrom A.M. , Ekvall S. , Allanson J. , Edeby C. , Elinder M. , Holmstrom G. , Bondeson M.L. , Anneren G.
Clin. Genet.76:524-534(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NFNS PHE-1411
74.

"Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas."
Ponti G. , Losi L. , Martorana D. , Priola M. , Boni E. , Pollio A. , Neri T.M. , Seidenari S.
Hered. Cancer Clin. Pract.9:6-6(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 THR-160
75.

"Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas."
Thomas L. , Spurlock G. , Eudall C. , Thomas N.S. , Mort M. , Hamby S.E. , Chuzhanova N. , Brems H. , Legius E. , Cooper D.N. , Upadhyaya M.
Eur. J. Hum. Genet.20:411-419(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GLU-176; THR-330; ASP-393; LEU-393; PRO-519; THR-776 AND PHE-1484
76.

"Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients."
Nemethova M. , Bolcekova A. , Ilencikova D. , Durovcikova D. , Hlinkova K. , Hlavata A. , Kovacs L. , Kadasi L. , Zatkova A.
Ann. Hum. Genet.77:364-379(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NF1 TRP-93; ARG-1048; ARG-1189; ARG-1661 (ISOFORM 1) AND THR-1918 (ISOFORM 1)
77.

"The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE."
Ben-Salem S. , Al-Shamsi A.M. , Ali B.R. , Al-Gazali L.
Childs Nerv. Syst.30:1183-1189(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NF1 PRO-2125

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