TTN ELISA Kit for Human(Homo sapiens) | EIAab.comTTN ELISA Kit for Human(Homo sapiens)

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

TTN (Gene name),

Titin (Protein name ), TITIN_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

TTN;

Protein name:

Titin;

Alternative:

Rhabdomyosarcoma antigen MU-RMS-40.14;Connectin;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with MYOM1, MYOM2, tropomyosin and myosin. Interacts with actin, primarily via the PEVK domains and with MYPN (By similarity). Interacts with FHL2, NEB, CRYAB, LMNA/lamin-A and LMNB/lamin-B. Interacts with TCAP/telethonin and/or ANK1 isoform Mu17/ank1.5, via the first two N-terminal immunoglobulin domains. Interacts with TRIM63 and TRIM55, through several domains including immunoglobulin domains 141 and 142. Interacts with ANKRD1, ANKRD2 and ANKRD23, via the region between immunoglobulin domains 77 and 78 and interacts with CAPN3, via immunoglobulin domain 79. Interacts with NBR1 through the protein kinase domain. Interacts with CALM/calmodulin. Isoform 8 interacts with OBSCN isoform 3.

Function:

Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase.

Subcellular Location:

Cytoplasm Nucleus

Protein Attributes:

Sequence length:

34350

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3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.134602

MIM:

188840

KEGG:

hsa:7273

Pfam:

PF00041

Uniprot:

Q8WZ42

FOR

ELISA Kit for Human Titin

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E1667h

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ELISA Kit for Human Titin

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E1667m

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Manual:

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CLIA Kit for Human Titin

Cat.:

U1667m

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96T

CLIA Kit for Human Titin

Cat.:

U1667h

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MSDS:

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Polyclonal Antibody for Human Titin

Cat.:

P1667Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Titin

Cat.:

P1667Rb-m

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Titin

Protein for Human Titin

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

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Linearity

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References

1.

"Titins, giant proteins in charge of muscle ultrastructure and elasticity."
Labeit S. , Kolmerer B.
Science270:293-296(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 3);NUCLEOTIDE SEQUENCE [MRNA] OF 3336-12202 (ISOFORM 4);VARIANTS ILE-498; GLU-1201; MET-3261; ASN-3419; SER-3491; GLU-12679; ILE-19762; ILE-20718; ASN-23807; MET-24980 AND THR-27755
tissue: Skeletal muscle.
2.

"Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity."
Freiburg A. , Trombitas K. , Hell W. , Cazorla O. , Fougerousse F. , Centner T. , Kolmerer B. , Witt C. , Beckmann J.S. , Gregorio C.C. , Granzier H. , Labeit S.
Circ. Res.86:1114-1121(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA];ALTERNATIVE SPLICING;VARIANTS LEU-1295; GLN-1572; ILE-2610; ASN-2831; SER-3491; PRO-4215; PHE-4283 AND ARG-12383
3.

"The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system."
Bang M.-L. , Centner T. , Fornoff F. , Geach A.J. , Gotthardt M. , McNabb M. , Witt C.C. , Labeit D. , Gregorio C.C. , Granzier H. , Labeit S.
Circ. Res.89:1065-1072(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA];ALTERNATIVE SPLICING;TISSUE SPECIFICITY;INTERACTION WITH OBSCN;VARIANTS LEU-1295; GLN-1572; ILE-2610; ASN-2831; SER-3491; PRO-4215 AND PHE-4283
4.

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
Nature434:724-731(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-626 AND 34071-34350 (ISOFORM 3)
tissue: Muscle.
tissue: Skeletal muscle.
6.

"The central Z-disk region of titin is assembled from a novel repeat in variable copy numbers."
Gautel M. , Goulding D. , Bullard B. , Weber K. , Furst D.O.
J. Cell Sci.109:2747-2754(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: NUCLEOTIDE SEQUENCE [MRNA] OF 405-709 (ISOFORMS 1 AND 2)
tissue: Heart muscle.
7.

"Dissecting titin into its structural motifs: identification of an alpha helix near the N-terminus."
Musco G. , Tziatzos C. , Schuck P. , Pastore A.
Biochemistry34:553-561(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] OF 2023-2060;TISSUE SPECIFICITY
tissue: Heart muscle.
8.

"Familial dilated cardiomyopathy locus maps to chromosome 2q31."
Siu B.L. , Niimura H. , Osborne J.A. , Fatkin D. , MacRae C. , Solomon S. , Benson D.W. , Seidman J.G. , Seidman C.E.
Circulation99:1022-1026(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 3455-4473;VARIANTS PRO-4215 AND PHE-4283
9.

"Species variations in cDNA sequence and exon splicing patterns in the extensible I-band region of cardiac titin: relation to passive tension."
Greaser M.L. , Berri M. , Warren C.M. , Mozdziak P.E.
J. Muscle Res. Cell Motil.23:473-482(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: NUCLEOTIDE SEQUENCE [MRNA] OF 9806-12017 (ISOFORM 5)
tissue: Heart ventricle.
10.

Lubec G. , Chen W.-Q. , Sun Y.
Submitted (2008-12) to the UniProtKB

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 11773-11783; 17908-17931; 18656-18669; 26545-26553; 28758-28774 AND 32920-32928;IDENTIFICATION BY MASS SPECTROMETRY
tissue: Fetal brain cortex.
11.

"Serological identification of rhabdomyosarcoma antigens."
Behrends U. , Gotz C. , Mautner J.
Submitted (2005-10) 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 [MRNA] OF 12947-13797
tissue: Embryonic rhabdomyosarcoma.
12.

"Titin antibodies in myasthenia gravis: identification of a major immunogenic region of titin."
Gautel M. , Lakey A. , Barlow D.P. , Holmes Z. , Scales S. , Leonard K. , Labeit S. , Mygland A. , Gilhus N.E. , Aarli J.A.
Neurology43:1581-1585(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 OF 14257-14543
13.

"Towards a molecular understanding of titin."
Labeit S. , Gautel M. , Lakey A. , Trinick J.
EMBO J.11:1711-1716(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] OF 21021-22120;NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 23754-24284
14.

"Phosphorylation of KSF motifs in the C-terminal region of titin in differentiating myoblasts."
Gautel M. , Leonard K. , Labeit S.
EMBO J.12:3827-3834(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 29701-34350;PHOSPHORYLATION
15.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 33119-34350
tissue: Skeletal muscle.
16.

"Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin."
Mues A. , van der Ven P.F.M. , Young P. , Furst D.O. , Gautel M.
FEBS Lett.428:111-114(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: INTERACTION WITH TCAP
17.

"Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin."
Ma K. , Wang K.
FEBS Lett.532:273-278(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: INTERACTION WITH NEB
18.

"Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2."
Lange S. , Auerbach D. , McLoughlin P. , Perriard E. , Schafer B.W. , Perriard J.-C. , Ehler E.
J. Cell Sci.115:4925-4936(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: INTERACTION WITH FHL2
19.

"The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin."
Kontrogianni-Konstantopoulos A. , Bloch R.J.
J. Biol. Chem.278:3985-3991(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: INTERACTION WITH ANK1
20.

"The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules."
Miller M.K. , Bang M.-L. , Witt C.C. , Labeit D. , Trombitas C. , Watanabe K. , Granzier H. , McElhinny A.S. , Gregorio C.C. , Labeit S.
J. Mol. Biol.333:951-964(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: INTERACTION WITH ANKRD1; ANKRD2; ANKRD23 AND CAPN3
21.

"Association of the chaperone alphaB-crystallin with titin in heart muscle."
Bullard B. , Ferguson C. , Minajeva A. , Leake M.C. , Gautel M. , Labeit D. , Ding L. , Labeit S. , Horwitz J. , Leonard K.R. , Linke W.A.
J. Biol. Chem.279:7917-7924(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: INTERACTION WITH CRYAB
22.

"MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination."
Witt S.H. , Granzier H. , Witt C.C. , Labeit S.
J. Mol. Biol.350:713-722(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: INTERACTION WITH TRIM63 AND TRIM55
23.

"Nuclear titin interacts with A- and B-type lamins in vitro and in vivo."
Zastrow M.S. , Flaherty D.B. , Benian G.M. , Wilson K.L.
J. Cell Sci.119:239-249(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: INTERACTION WITH LAMIN;SUBCELLULAR LOCATION
24.

"Mechanical stress-strain sensors embedded in cardiac cytoskeleton: Z disk, titin, and associated structures."
Hoshijima M.
Am. J. Physiol.290:H1313-H1325(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: REVIEW
25.

"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]
26.

"Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies."
Sarparanta J. , Blandin G. , Charton K. , Vihola A. , Marchand S. , Milic A. , Hackman P. , Ehler E. , Richard I. , Udd B.
J. Biol. Chem.285:30304-30315(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: INTERACTION WITH CMYA5
27.

"Tertiary structure of an immunoglobulin-like domain from the giant muscle protein titin: a new member of the I set."
Pfuhl M. , Pastore A.
Structure3:391-401(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: STRUCTURE BY NMR OF 33483-33579
28.

"Structural basis for activation of the titin kinase domain during myofibrillogenesis."
Mayans O. , van der Ven P.F.M. , Wilm M. , Mues A. , Young P. , Furst D.O. , Wilmanns M. , Gautel M.
Nature395:863-869(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 (2.0 ANGSTROMS) OF 32172-32489;FUNCTION;ENZYME REGULATION;INTERACTION WITH CALM;PHOSPHORYLATION AT TYR-32341;MUTAGENESIS OF LYS-32207 AND TYR-32341
29.

"The three-dimensional structure of a type I module from titin: a prototype of intracellular fibronectin type III domains."
Goll C.M. , Pastore A. , Nilges M.
Structure6:1291-1302(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: STRUCTURE BY NMR OF 22283-22385
30.

"Structural evidence for a possible role of reversible disulphide bridge formation in the elasticity of the muscle protein titin."
Mayans O. , Wuerges J. , Canela S. , Gautel M. , Wilmanns M.
Structure9:331-340(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: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 2073-2171;DISULFIDE BOND
31.

"Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk."
Zou P. , Pinotsis N. , Lange S. , Song Y.-H. , Popov A. , Mavridis I. , Mayans O.M. , Gautel M. , Wilmanns M.
Nature439:229-233(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 (2.44 ANGSTROMS) OF 1-196 IN COMPLEX WITH TCAP
32.

"Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene."
Satoh M. , Takahashi M. , Sakamoto T. , Hiroe M. , Marumo F. , Kimura A.
Biochem. Biophys. Res. Commun.262:411-417(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 CMH9 LEU-740
33.

"Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin."
Hackman P. , Vihola A. , Haravuori H. , Marchand S. , Sarparanta J. , De Seze J. , Labeit S. , Witt C. , Peltonen L. , Richard I. , Udd B.
Am. J. Hum. Genet.71:492-500(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: INVOLVEMENT IN LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J;VARIANT TMD PRO-34315
34.

"Titin mutations as the molecular basis for dilated cardiomyopathy."
Itoh-Satoh M. , Hayashi T. , Nishi H. , Koga Y. , Arimura T. , Koyanagi T. , Takahashi M. , Hohda S. , Ueda K. , Nouchi T. , Hiroe M. , Marumo F. , Imaizumi T. , Yasunami M. , Kimura A.
Biochem. Biophys. Res. Commun.291:385-393(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 CMD1G MET-54; VAL-743; TYR-3799 AND ASN-4465;VARIANTS CYS-328; GLN-4084 AND PRO-4215;CHARACTERIZATION OF VARIANTS CMD1G MET-54 AND VAL-743
35.

"Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy."
Gerull B. , Gramlich M. , Atherton J. , McNabb M. , Trombitas K. , Sasse-Klaassen S. , Seidman J.G. , Seidman C. , Granzier H. , Labeit S. , Frenneaux M. , Thierfelder L.
Nat. Genet.30:201-204(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: VARIANT CMD1G ARG-976
36.

"Tibial muscular dystrophy in a Belgian family."
Van den Bergh P.Y.K. , Bouquiaux O. , Verellen C. , Marchand S. , Richard I. , Hackman P. , Udd B.
Ann. Neurol.54:248-251(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 TMD ASN-34306
37.

"Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy."
Matsumoto Y. , Hayashi T. , Inagaki N. , Takahashi M. , Hiroi S. , Nakamura T. , Arimura T. , Nakamura K. , Ashizawa N. , Yasunami M. , Ohe T. , Yano K. , Kimura A.
J. Muscle Res. Cell Motil.26:367-374(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 CMD1G GLN-32996
38.

"The kinase domain of titin controls muscle gene expression and protein turnover."
Lange S. , Xiang F. , Yakovenko A. , Vihola A. , Hackman P. , Rostkova E. , Kristensen J. , Brandmeier B. , Franzen G. , Hedberg B. , Gunnarsson L.G. , Hughes S.M. , Marchand S. , Sejersen T. , Richard I. , Edstroem L. , Ehler E. , Udd B. , more...
Science308:1599-1603(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 HMERF TRP-279;CHARACTERIZATION OF VARIANT HMERF TRP-279;INTERACTION WITH NBR1
39.

"C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy."
Carmignac V. , Salih M.A.M. , Quijano-Roy S. , Marchand S. , Al Rayess M.M. , Mukhtar M.M. , Urtizberea J.A. , Labeit S. , Guicheney P. , Leturcq F. , Gautel M. , Fardeau M. , Campbell K.P. , Richard I. , Estournet B. , Ferreiro A.
Ann. Neurol.61:340-351(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: INVOLVEMENT IN EOMFC
40.

"Patterns of somatic mutation in human cancer genomes."
Greenman C. , Stephens P. , Smith R. , Dalgliesh G.L. , Hunter C. , Bignell G. , Davies H. , Teague J. , Butler A. , Stevens C. , Edkins S. , O'Meara S. , Vastrik I. , Schmidt E.E. , Avis T. , Barthorpe S. , Bhamra G. , Buck G. , more...
Nature446:153-158(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: VARIANTS [LARGE SCALE ANALYSIS] TYR-60; MET-115; CYS-328; THR-360; ILE-498; MET-799; ILE-811; HIS-922; ASP-937; THR-1081; ARG-1137; GLU-1201; ALA-1202; LEU-1295; ASP-1345; THR-1347; HIS-1350; LEU-1353; VAL-1393; CYS-1416; PRO-1441; VAL-1544; GLN-1572; GLY-1658; GLN-1664; ASP-1692; LEU-1744; GLY-1772; ILE-1907; HIS-1998; LEU-2107; THR-2118; THR-2164; TYR-2240; SER-2392; PHE-2432; ILE-2610; MET-2771; PHE-2823; ASN-2831; ILE-2930; ARG-3154; GLU-3191; LEU-3238; GLY-3250; MET-3261; GLN-3367; LYS-3482; LYS-3570; VAL-3590; VAL-3762; PHE-3877; LEU-3965; PRO-4215; TRP-4238; PHE-4283; THR-4291; ASP-4303; GLU-4427; GLU-12310; ALA-12469; CYS-12642; LYS-12657; GLU-12679; PHE-12720; CYS-12798; GLY-13049; LYS-13083; LEU-13096; ARG-13099; ALA-13297; MET-13399; THR-13418; VAL-13428; THR-13430; LYS-13434; ASN-13469; ASN-13495; SER-13785; HIS-13870; ILE-14109; GLN-14131; THR-14208; VAL-14728; THR-14999; THR-15021; VAL-15520; ILE-15555; GLN-15620; ILE-15629; CYS-15635; GLN-15700; PRO-15705; MET-15837; HIS-16058; ILE-16067; THR-16090; HIS-16195; CYS-16409; PRO-16424; MET-16629; ARG-16877; ASP-17060; VAL-17637; HIS-17838; ASN-17866; GLU-17906; ALA-18094; SER-18109; THR-18164; LEU-18221; THR-18222; GLN-18726; ALA-18835; LYS-18881; SER-18939; GLN-19000; GLN-19060; LYS-19091; SER-19224; ILE-19367; LYS-19392; SER-19480; GLY-19495; HIS-19665; ILE-19762; ARG-19947; MET-19956; GLN-19992; CYS-20057; LEU-20075; LYS-20179; THR-20198; VAL-20198; HIS-20331; THR-20408; LYS-20564; ILE-20718; PRO-20726; ASN-20892; ARG-20894; GLU-21125; SER-21403; CYS-21730; GLN-21747; ARG-21851; ARG-21851; ARG-21925; HIS-21995; VAL-22045; HIS-22149; ILE-22160; THR-22261; ASN-22306; HIS-22357; PRO-22408; HIS-22537; LEU-22584; PRO-22646; ALA-22670; ASP-22770; THR-22801; TRP-22823; GLN-22968; LEU-23074; PHE-23079; ASN-23282; TYR-23303; CYS-23306; SER-23515; GLN-23551; ASN-23807; ASN-23872; ALA-23891; HIS-23933; MET-23939; LEU-23952; GLY-24098; SER-24119; ILE-24133; ALA-24159; ALA-24239; LYS-24265; THR-24584; THR-24781; HIS-24799; HIS-24954; MET-24980; HIS-25659; THR-25679; ALA-25720; LYS-25821; LYS-25859; LYS-25879; VAL-25923; ILE-26045; GLU-26059; VAL-26134; CYS-26477; TYR-26843; ARG-27346; CYS-27652; VAL-27728; LEU-27754; THR-27755; VAL-27929; LEU-28132; GLN-28168; HIS-28538; THR-28572; THR-28948; VAL-28986; GLU-28993; VAL-28998; MET-29070; VAL-29090; CYS-29419; PRO-29479; LEU-29880; GLU-29976; GLY-30042; CYS-30107; PHE-30125; PRO-30211; THR-30412; SER-30617; ILE-30674; ILE-30809; ILE-30818; LYS-30825; THR-30856; ASP-30887; SER-30887; HIS-30897; HIS-30907; HIS-30946; PHE-31081; CYS-31107; GLY-31124; SER-31156; THR-31246; HIS-31330; ARG-31690; GLN-31724; ILE-31725; SER-31732; ILE-31886; CYS-32097; ASN-32171; ILE-32248; HIS-32281; HIS-32323; TRP-32411; VAL-32558; VAL-32610; VAL-32637; ALA-32922; ARG-32943; HIS-32953; LEU-33213; CYS-33242; MET-33387; ASP-33419; MET-33536; GLN-33568; LYS-33616; LEU-33620; VAL-33886; THR-33899; PRO-33904; ILE-33955 AND ALA-34115
41.

"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J. , Willemsen M.H. , van Bon B.W. , Kleefstra T. , Yntema H.G. , Kroes T. , Vulto-van Silfhout A.T. , Koolen D.A. , de Vries P. , Gilissen C. , del Rosario M. , Hoischen A. , Scheffer H. , de Vries B.B. , Brunner H.G. , Veltman J.A. , Vissers L.E.
N. Engl. J. Med.367:1921-1929(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 VAL-16046 AND GLN-32742

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