Protein name:
Myosin-9 ;
Alternative:
Myosin heavy chain 9 ;Cellular myosin heavy chain, type A ;Non-muscle myosin heavy chain A (NMMHC-A) ;Myosin heavy chain, non-muscle IIa ;Non-muscle myosin heavy chain IIa (NMMHC II-a;NMMHC-IIA) ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Interacts with PDLIM2 (By similarity). Interacts with SLC6A4 (By similarity). Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with SVIL.
Function:
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
Subcellular Location:
N/A
Protein Attributes:
50:
MAQQAADKYL | YVDKNFINNP | LAQADWAAKK | LVWVPSDKSG | FEPASLKEEV |
100:
GEEAIVELVE | NGKKVKVNKD | DIQKMNPPKF | SKVEDMAELT | CLNEASVLHN |
150:
LKERYYSGLI | YTYSGLFCVV | INPYKNLPIY | SEEIVEMYKG | KKRHEMPPHI |
200:
YAITDTAYRS | MMQDREDQSI | LCTGESGAGK | TENTKKVIQY | LAYVASSHKS |
250:
KKDQGELERQ | LLQANPILEA | FGNAKTVKND | NSSRFGKFIR | INFDVNGYIV |
300:
GANIETYLLE | KSRAIRQAKE | ERTFHIFYYL | LSGAGEHLKT | DLLLEPYNKY |
350:
RFLSNGHVTI | PGQQDKDMFQ | ETMEAMRIMG | IPEEEQMGLL | RVISGVLQLG |
400:
NIVFKKERNT | DQASMPDNTA | AQKVSHLLGI | NVTDFTRGIL | TPRIKVGRDY |
450:
VQKAQTKEQA | DFAIEALAKA | TYERMFRWLV | LRINKALDKT | KRQGASFIGI |
500:
LDIAGFEIFD | LNSFEQLCIN | YTNEKLQQLF | NHTMFILEQE | EYQREGIEWN |
550:
FIDFGLDLQP | CIDLIEKPAG | PPGILALLDE | ECWFPKATDK | SFVEKVMQEQ |
600:
GTHPKFQKPK | QLKDKADFCI | IHYAGKVDYK | ADEWLMKNMD | PLNDNIATLL |
650:
HQSSDKFVSE | LWKDVDRIIG | LDQVAGMSET | ALPGAFKTRK | GMFRTVGQLY |
700:
KEQLAKLMAT | LRNTNPNFVR | CIIPNHEKKA | GKLDPHLVLD | QLRCNGVLEG |
750:
IRICRQGFPN | RVVFQEFRQR | YEILTPNSIP | KGFMDGKQAC | VLMIKALELD |
800:
SNLYRIGQSK | VFFRAGVLAH | LEEERDLKIT | DVIIGFQACC | RGYLARKAFA |
850:
KRQQQLTAMK | VLQRNCAAYL | KLRNWQWWRL | FTKVKPLLQV | SRQEEEMMAK |
900:
EEELVKVREK | QLAAENRLTE | METLQSQLMA | EKLQLQEQLQ | AETELCAEAE |
950:
ELRARLTAKK | QELEEICHDL | EARVEEEEER | CQHLQAEKKK | MQQNIQELEE |
1000:
QLEEEESARQ | KLQLEKVTTE | AKLKKLEEEQ | IILEDQNCKL | AKEKKLLEDR |
1050:
IAEFTTNLTE | EEEKSKSLAK | LKNKHEAMIT | DLEERLRREE | KQRQELEKTR |
1100:
RKLEGDSTDL | SDQIAELQAQ | IAELKMQLAK | KEEELQAALA | RVEEEAAQKN |
1150:
MALKKIRELE | SQISELQEDL | ESERASRNKA | EKQKRDLGEE | LEALKTELED |
1200:
TLDSTAAQQE | LRSKREQEVN | ILKKTLEEEA | KTHEAQIQEM | RQKHSQAVEE |
1250:
LAEQLEQTKR | VKANLEKAKQ | TLENERGELA | NEVKVLLQGK | GDSEHKRKKV |
1300:
EAQLQELQVK | FNEGERVRTE | LADKVTKLQV | ELDNVTGLLS | QSDSKSSKLT |
1350:
KDFSALESQL | QDTQELLQEE | NRQKLSLSTK | LKQVEDEKNS | FREQLEEEEE |
1400:
AKHNLEKQIA | TLHAQVADMK | KKMEDSVGCL | ETAEEVKRKL | QKDLEGLSQR |
1450:
HEEKVAAYDK | LEKTKTRLQQ | ELDDLLVDLD | HQRQSACNLE | KKQKKFDQLL |
1500:
AEEKTISAKY | AEERDRAEAE | AREKETKALS | LARALEEAME | QKAELERLNK |
1550:
QFRTEMEDLM | SSKDDVGKSV | HELEKSKRAL | EQQVEEMKTQ | LEELEDELQA |
1600:
TEDAKLRLEV | NLQAMKAQFE | RDLQGRDEQS | EEKKKQLVRQ | VREMEAELED |
1650:
ERKQRSMAVA | ARKKLEMDLK | DLEAHIDSAN | KNRDEAIKQL | RKLQAQMKDC |
1700:
MRELDDTRAS | REEILAQAKE | NEKKLKSMEA | EMIQLQEELA | AAERAKRQAQ |
1750:
QERDELADEI | ANSSGKGALA | LEEKRRLEAR | IAQLEEELEE | EQGNTELIND |
1800:
RLKKANLQID | QINTDLNLER | SHAQKNENAR | QQLERQNKEL | KVKLQEMEGT |
1850:
VKSKYKASIT | ALEAKIAQLE | EQLDNETKER | QAACKQVRRT | EKKLKDVLLQ |
1900:
VDDERRNAEQ | YKDQADKAST | RLKQLKRQLE | EAEEEAQRAN | ASRRKLQREL |
1950:
EDATETADAM | NREVSSLKNK | LRRGDLPFVV | PRRMARKGAG | DGSDEEVDGK |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Dog
Mouse
Chicken
Rat
ELISA Kit for Human Myosin-9
ELISA Kit for Human Myosin-9
ELISA Kit for Human Myosin-9
ELISA Kit for Human Myosin-9
ELISA Kit for Human Myosin-9
CLIA Kit for Human Myosin-9
CLIA Kit for Human Myosin-9
CLIA Kit for Human Myosin-9
CLIA Kit for Human Myosin-9
CLIA Kit for Human Myosin-9
Polyclonal Antibody for Human Myosin-9
Polyclonal Antibody for Human Myosin-9
Polyclonal Antibody for Human Myosin-9
Polyclonal Antibody for Human Myosin-9
Polyclonal Antibody for Human Myosin-9
Monoclonal Antibody for Human Myosin-9
Monoclonal Antibody for Human Myosin-9
Monoclonal Antibody for Human Myosin-9
Monoclonal Antibody for Human Myosin-9
Monoclonal Antibody for Human Myosin-9
Protein for Human Myosin-9
Protein for Human Myosin-9
Protein for Human Myosin-9
Protein for Human Myosin-9
Protein for Human Myosin-9
R&D Technical Data
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Precision
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Recovery
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Linearity
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
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,
Shue B.C.
,
Zheng X.H.
,
Zhong F.
,
Delcher A.L.
,
Huson D.H.
,
Kravitz S.A.
,
Mouchard L.
,
Reinert K.
,
Remington K.A.
,
Clark A.G.
,
Waterman M.S.
,
Eichler E.E.
,
Adams M.D.
,
Hunkapiller M.W.
,
Myers E.W.
,
Venter J.C.
more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.
"Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation."
Toothaker L.E.
,
Gonzalez D.A.
,
Tung N.
,
Lemons R.S.
,
le Beau M.M.
,
Arnaout M.A.
,
Clayton L.K.
,
Tenen D.G.
Blood78:1826-1833(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 1-1337;TISSUE SPECIFICITY
8.
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T.
,
Suzuki Y.
,
Nishikawa T.
,
Otsuki T.
,
Sugiyama T.
,
Irie R.
,
Wakamatsu A.
,
Hayashi K.
,
Sato H.
,
Nagai K.
,
Kimura K.
,
Makita H.
,
Sekine M.
,
Obayashi M.
,
Nishi T.
,
Shibahara T.
,
Tanaka T.
,
Ishii S.
,
Yamamoto J.
,
Saito K.
,
Kawai Y.
,
Isono Y.
,
Nakamura Y.
,
Nagahari K.
,
Murakami K.
,
Yasuda T.
,
Iwayanagi T.
,
Wagatsuma M.
,
Shiratori A.
,
Sudo H.
,
Hosoiri T.
,
Kaku Y.
,
Kodaira H.
,
Kondo H.
,
Sugawara M.
,
Takahashi M.
,
Kanda K.
,
Yokoi T.
,
Furuya T.
,
Kikkawa E.
,
Omura Y.
,
Abe K.
,
Kamihara K.
,
Katsuta N.
,
Sato K.
,
Tanikawa M.
,
Yamazaki M.
,
Ninomiya K.
,
Ishibashi T.
,
Yamashita H.
,
Murakawa K.
,
Fujimori K.
,
Tanai H.
,
Kimata M.
,
Watanabe M.
,
Hiraoka S.
,
Chiba Y.
,
Ishida S.
,
Ono Y.
,
Takiguchi S.
,
Watanabe S.
,
Yosida M.
,
Hotuta T.
,
Kusano J.
,
Kanehori K.
,
Takahashi-Fujii A.
,
Hara H.
,
Tanase T.-O.
,
Nomura Y.
,
Togiya S.
,
Komai F.
,
Hara R.
,
Takeuchi K.
,
Arita M.
,
Imose N.
,
Musashino K.
,
Yuuki H.
,
Oshima A.
,
Sasaki N.
,
Aotsuka S.
,
Yoshikawa Y.
,
Matsunawa H.
,
Ichihara T.
,
Shiohata N.
,
Sano S.
,
Moriya S.
,
Momiyama H.
,
Satoh N.
,
Takami S.
,
Terashima Y.
,
Suzuki O.
,
Nakagawa S.
,
Senoh A.
,
Mizoguchi H.
,
Goto Y.
,
Shimizu F.
,
Wakebe H.
,
Hishigaki H.
,
Watanabe T.
,
Sugiyama A.
,
Takemoto M.
,
Kawakami B.
,
Yamazaki M.
,
Watanabe K.
,
Kumagai A.
,
Itakura S.
,
Fukuzumi Y.
,
Fujimori Y.
,
Komiyama M.
,
Tashiro H.
,
Tanigami A.
,
Fujiwara T.
,
Ono T.
,
Yamada K.
,
Fujii Y.
,
Ozaki K.
,
Hirao M.
,
Ohmori Y.
,
Kawabata A.
,
Hikiji T.
,
Kobatake N.
,
Inagaki H.
,
Ikema Y.
,
Okamoto S.
,
Okitani R.
,
Kawakami T.
,
Noguchi S.
,
Itoh T.
,
Shigeta K.
,
Senba T.
,
Matsumura K.
,
Nakajima Y.
,
Mizuno T.
,
Morinaga M.
,
Sasaki M.
,
Togashi T.
,
Oyama M.
,
Hata H.
,
Watanabe M.
,
Komatsu T.
,
Mizushima-Sugano J.
,
Satoh T.
,
Shirai Y.
,
Takahashi Y.
,
Nakagawa K.
,
Okumura K.
,
Nagase T.
,
Nomura N.
,
Kikuchi H.
,
Masuho Y.
,
Yamashita R.
,
Nakai K.
,
Yada T.
,
Nakamura Y.
,
Ohara O.
,
Isogai T.
,
Sugano S.
more...
Nat. Genet.36:40-45(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1009
tissue :
Placenta .
9.
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Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 1-715
10.
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Cited for : PROTEIN SEQUENCE OF 2-47; 67-74; 126-139; 187-199; 203-225; 241-261; 290-299; 328-355; 359-387; 408-419; 476-494; 546-555; 581-613; 618-637; 645-651; 657-670; 683-693; 712-718; 721-731; 746-755; 765-775; 802-810; 824-829; 834-842; 861-867; 924-930; 995-1014; 1042-1048; 1052-1075; 1081-1099; 1136-1162; 1166-1191; 1261-1266; 1278-1295; 1302-1322; 1393-1400; 1405-1413; 1418-1433; 1484-1492; 1504-1513; 1519-1525; 1529-1555; 1558-1566; 1606-1612; 1614-1638; 1642-1648; 1662-1669; 1704-1724; 1794-1802; 1807-1828; 1857-1867; 1899-1912; 1923-1932 AND 1951-1960;CLEAVAGE OF INITIATOR METHIONINE;ACETYLATION AT ALA-2;IDENTIFICATION BY MASS SPECTROMETRY
tissue :
Platelet .
11.
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Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 714-1960
12.
[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 SVIL
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ISGYLATION
14.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
15.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
16.
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Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Prostate cancer .
17.
[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 SVIL
18.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
T-cell .
19.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Platelet .
20.
"MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis."
Kopp J.B.
,
Smith M.W.
,
Nelson G.W.
,
Johnson R.C.
,
Freedman B.I.
,
Bowden D.W.
,
Oleksyk T.
,
McKenzie L.M.
,
Kajiyama H.
,
Ahuja T.S.
,
Berns J.S.
,
Briggs W.
,
Cho M.E.
,
Dart R.A.
,
Kimmel P.L.
,
Korbet S.M.
,
Michel D.M.
,
Mokrzycki M.H.
,
Schelling J.R.
,
Simon E.
,
Trachtman H.
,
Vlahov D.
,
Winkler C.A.
more...
Nat. Genet.40:1175-1184(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 : ASSOCIATION WITH END STAGE RENAL DISEASE
21.
"MYH9 is associated with nondiabetic end-stage renal disease in African Americans."
Kao W.H.
,
Klag M.J.
,
Meoni L.A.
,
Reich D.
,
Berthier-Schaad Y.
,
Li M.
,
Coresh J.
,
Patterson N.
,
Tandon A.
,
Powe N.R.
,
Fink N.E.
,
Sadler J.H.
,
Weir M.R.
,
Abboud H.E.
,
Adler S.G.
,
Divers J.
,
Iyengar S.K.
,
Freedman B.I.
,
Kimmel P.L.
,
Knowler W.C.
,
Kohn O.F.
,
Kramp K.
,
Leehey D.J.
,
Nicholas S.B.
,
Pahl M.V.
,
Schelling J.R.
,
Sedor J.R.
,
Thornley-Brown D.
,
Winkler C.A.
,
Smith M.W.
,
Parekh R.S.
more...
Nat. Genet.40:1185-1192(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 : ASSOCIATION WITH END STAGE RENAL DISEASE
22.
[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 .
23.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Liver .
24.
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Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
25.
"Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans."
Freedman B.I.
,
Hicks P.J.
,
Bostrom M.A.
,
Cunningham M.E.
,
Liu Y.
,
Divers J.
,
Kopp J.B.
,
Winkler C.A.
,
Nelson G.W.
,
Langefeld C.D.
,
Bowden D.W.
Kidney Int.75:736-745(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 : ASSOCIATION WITH END STAGE RENAL DISEASE
26.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
27.
[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 TYR-11 AND SER-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Leukemic T-cell .
28.
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Cited for : ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2; LYS-8; LYS-102; LYS-299; LYS-1024; LYS-1357; LYS-1392; LYS-1404; LYS-1410; LYS-1459 AND LYS-1638;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
29.
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Cited for : FUNCTION;SUBCELLULAR LOCATION
30.
"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-1714 AND SER-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
31.
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Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
32.
[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-1943;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
33.
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Cited for : INTERACTION WITH HTRA3
34.
"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P.
,
Lasa M.
,
Polevoda B.
,
Gazquez C.
,
Elosegui-Artola A.
,
Kim D.S.
,
De Juan-Pardo E.
,
Demeyer K.
,
Hole K.
,
Larrea E.
,
Timmerman E.
,
Prieto J.
,
Arnesen T.
,
Sherman F.
,
Gevaert K.
,
Aldabe R.
Proc. Natl. Acad. Sci. U.S.A.109:12449-12454(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 : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
35.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT DFNA17 HIS-705
36.
"Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes."
Seri M.
,
Cusano M.
,
Gangarossa S.
,
Caridi G.
,
Bordo D.
,
Lo Nigro C.
,
Ghiggeri G.M.
,
Ravazzolo R.
,
Savino M.
,
Del Vecchio M.
,
d'Apolito M.
,
Iolascon A.
,
Zelante L.L.
,
Savoia A.
,
Balduini C.L.
,
Noris P.
,
Magrini U.
,
Belletti S.
,
Heath K.E.
,
Babcock M.
,
Glucksman M.J.
,
Aliprandis E.
,
Bizzaro N.
,
Desnick R.J.
,
Martignetti J.A.
more...
Nat. Genet.26:103-105(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 MHA/FTNS/SBS LYS-93; CYS-702; CYS-1165; HIS-1424 AND LYS-1841
37.
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Cited for : VARIANTS MHA ILE-1155 AND LYS-1841
38.
"Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes."
Heath K.E.
,
Campos-Barros A.
,
Toren A.
,
Rozenfeld-Granot G.
,
Carlsson L.E.
,
Savige J.
,
Denison J.C.
,
Gregory M.C.
,
White J.G.
,
Barker D.F.
,
Greinacher A.
,
Epstein C.J.
,
Glucksman M.J.
,
Martignetti J.A.
Am. J. Hum. Genet.69:1033-1045(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 MHA/SBS/FTNS/EPS/APSM ASN-373; CYS-702; HIS-702; PRO-1114; ASN-1424; HIS-1424 AND LYS-1841
39.
"Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions."
Kunishima S.
,
Matsushita T.
,
Kojima T.
,
Amemiya N.
,
Choi Y.M.
,
Hosaka N.
,
Inoue M.
,
Jung Y.
,
Mamiya S.
,
Matsumoto K.
,
Miyajima Y.
,
Zhang G.
,
Ruan C.
,
Saito K.
,
Song K.S.
,
Yoon H.-J.
,
Kamiya T.
,
Saito H.
J. Hum. Genet.46:722-729(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 MHA/FTNS/SBS THR-95; CYS-1165; LEU-1165; 1205-LEU--GLN-1207 DEL; HIS-1424; ASN-1424; TYR-1424 AND LYS-1841;VARIANT VAL-1626
40.
"Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene."
Seri M.
,
Savino M.
,
Bordo D.
,
Cusano R.
,
Rocca B.
,
Meloni I.
,
Di Bari F.
,
Koivisto P.A.
,
Bolognesi M.
,
Ghiggeri G.M.
,
Landolfi R.
,
Balduini C.L.
,
Zelante L.
,
Ravazzolo R.
,
Renieri A.
,
Savoia A.
Hum. Genet.110:182-186(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 EPS HIS-702
41.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FTNS/EPS LEU-96; LEU-1165; ASN-1424 AND LYS-1841;VARIANT TRP-1400;TISSUE SPECIFICITY
42.
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Cited for : CHARACTERIZATION OF VARIANT ASN-1424
43.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FTNS/SBS CYS-1165;VARIANTS SBS LEU-1165 AND 1205-LEU--GLN-1207 DEL;VARIANTS MHA HIS-1424; ASN-1424; TYR-1424 AND LYS-1841;VARIANT EPS VAL-1816;VARIANT FTNS/MHA LYS-1841
44.
"MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness."
Seri M.
,
Pecci A.
,
Di Bari F.
,
Cusano R.
,
Savino M.
,
Panza E.
,
Nigro A.
,
Noris P.
,
Gangarossa S.
,
Rocca B.
,
Gresele P.
,
Bizzaro N.
,
Malatesta P.
,
Koivisto P.A.
,
Longo I.
,
Musso R.
,
Pecoraro C.
,
Iolascon A.
,
Magrini U.
,
Rodriguez Soriano J.
,
Renieri A.
,
Ghiggeri G.M.
,
Ravazzolo R.
,
Balduini C.L.
,
Savoia A.
more...
Medicine (Baltimore)82:203-215(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 EPS HIS-702;VARIANTS FTNS GLN-910; ILE-1155 AND HIS-1424;VARIANTS MHA/SBS 1066-GLU--ALA-1072 DEL AND ASN-1424;VARIANT EPS/FTNS/MHA/SBS CYS-702
45.
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Cited for : VARIANT MPSD ASN-1424
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Cited for : VARIANT EPS LEU-96
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"The consensus coding sequences of human breast and colorectal cancers."
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Cited for : VARIANT [LARGE SCALE ANALYSIS] ASN-810
48.
"Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease."
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Cited for : POSITION OF MUTATIONS IN MYH9-RELATED DISEASE