NSD2

Summary

Gene Symbol: NSD2
Description: nuclear receptor binding SET domain protein 2
Alias: KMT3F, KMT3G, MMSET, REIIBP, TRX5, WHS, WHSC1, histone-lysine N-methyltransferase NSD2, IL5 promoter REII region-binding protein, Wolf-Hirschhorn syndrome candidate 1, multiple myeloma SET domain containing protein type III, nuclear SET domain-containing protein 2, trithorax/ash1-related protein 5
Species: human
Products:     NSD2

Top Publications

  1. Kang H, Choi Y, Lee J, Choi K, Kim H, Yoo J, et al. The histone methyltransferase, NSD2, enhances androgen receptor-mediated transcription. FEBS Lett. 2009;583:1880-6 pubmed publisher
    In this study, we discovered that NSD2 specifically interacts with the DNA-binding domain of androgen receptor (AR) via its HMG domain, and the nuclear translocation of both NSD2 and AR is enhanced in the presence of ligand...
  2. Brito J, Walker B, Jenner M, Dickens N, Brown N, Ross F, et al. MMSET deregulation affects cell cycle progression and adhesion regulons in t(4;14) myeloma plasma cells. Haematologica. 2009;94:78-86 pubmed publisher
    ..The t(4;14) up-regulates fibroblast growth factor receptor 3 (FGFR3) and multiple myeloma SET domain (MMSET) genes...
  3. Ezponda T, Popovic R, Shah M, Martinez Garcia E, Zheng Y, Min D, et al. The histone methyltransferase MMSET/WHSC1 activates TWIST1 to promote an epithelial-mesenchymal transition and invasive properties of prostate cancer. Oncogene. 2013;32:2882-90 pubmed publisher
    ..The histone methyltransferase MMSET/WHSC1 (Multiple Myeloma SET domain) is overexpressed in a number of metastatic tumors, but its mechanism of action ..
  4. Toyokawa G, Cho H, Masuda K, Yamane Y, Yoshimatsu M, Hayami S, et al. Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway. Neoplasia. 2011;13:887-98 pubmed
    ..Here, we demonstrate that Wolf-Hirschhorn syndrome candidate 1 (WHSC1) plays important roles in human carcinogenesis...
  5. Pei H, Zhang L, Luo K, Qin Y, Chesi M, Fei F, et al. MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites. Nature. 2011;470:124-8 pubmed publisher
    ..and that methylation of H4K20 at DSBs is mediated by the histone methyltransferase MMSET (also known as NSD2 or WHSC1) in mammals...
  6. Martinez Garcia E, Popovic R, Min D, Sweet S, Thomas P, Zamdborg L, et al. The MMSET histone methyl transferase switches global histone methylation and alters gene expression in t(4;14) multiple myeloma cells. Blood. 2011;117:211-20 pubmed publisher
    The multiple myeloma SET domain (MMSET) protein is overexpressed in multiple myeloma (MM) patients with the translocation t(4;14)...
  7. Kim J, Kee H, Choe N, Kim S, Eom G, Baek H, et al. Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity. Mol Cell Biol. 2008;28:2023-34 pubmed publisher
    ..These data illustrate the important regulatory role of RE-IIBP in transcriptional regulation, thereby pointing to the important role of HMTase activity in carcinogenesis. ..
  8. Chu L, Su M, Maggi L, Lu L, Mullins C, Crosby S, et al. Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress. J Clin Invest. 2012;122:2793-806 pubmed publisher
    The histone methyltransferase WHSC1 (also known as MMSET) is overexpressed in multiple myeloma (MM) as a result of the t(4;14) chromosomal translocation and in a broad variety of other cancers by unclear mechanisms...
  9. Lauring J, Abukhdeir A, Konishi H, Garay J, Gustin J, Wang Q, et al. The multiple myeloma associated MMSET gene contributes to cellular adhesion, clonogenic growth, and tumorigenicity. Blood. 2008;111:856-64 pubmed
    ..it involves 2 potential target genes: fibroblast growth factor receptor 3 (FGFR3) and multiple myeloma SET domain (MMSET). MMSET is universally overexpressed in t(4;14) MM, whereas FGFR3 expression is lost in one-third of cases...

More Information

Publications95

  1. Asangani I, Ateeq B, Cao Q, Dodson L, Pandhi M, Kunju L, et al. Characterization of the EZH2-MMSET histone methyltransferase regulatory axis in cancer. Mol Cell. 2013;49:80-93 pubmed publisher
    ..Here, we molecularly order two HMTases, EZH2 and MMSET, that have established genetic links to oncogenesis...
  2. Todoerti K, Ronchetti D, Agnelli L, Castellani S, Marelli S, Deliliers G, et al. Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma. Br J Haematol. 2005;131:214-8 pubmed
    The WHSC1/MMSET gene, involved in t(4;14)(p16.3;q32) in multiple myeloma, encodes putative isoforms (MMSET I, MMSET II and RE-IIBP) which are thought to be involved in transcription regulation...
  3. Bergemann A, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005;21:188-95 pubmed
    ..Only one gene, WHSC1, is deleted in every case...
  4. Keats J, Maxwell C, Taylor B, Hendzel M, Chesi M, Bergsagel P, et al. Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. Blood. 2005;105:4060-9 pubmed
    ..on a panel of myeloma cell lines and purified plasma cells showed that only transcripts originating from the WHSC1/MMSET/NSD2 gene are uniformly dysregulated in all t(4;14)POS patients...
  5. Santra M, Zhan F, Tian E, Barlogie B, Shaughnessy J. A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. Blood. 2003;101:2374-6 pubmed
    ..characterized by a reciprocal t(4;14)(p16;q32) translocation that activates expression of FGFR3 and creates an IGH/MMSET fusion transcript...
  6. Stec I, Wright T, van Ommen G, de Boer P, van Haeringen A, Moorman A, et al. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet. 1998;7:1071-82 pubmed
    ..We have identified and studied a 90 kb gene, designated as WHSC1 , mapping to the 165 kb WHS critical region...
  7. Chesi M, Nardini E, Lim R, Smith K, Kuehl W, Bergsagel P. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood. 1998;92:3025-34 pubmed
    ..We now report that the 4p16 breakpoints occur telomeric to and within the 5' introns of a novel gene, MMSET (Multiple Myeloma SET domain)...
  8. Garlisi C, Uss A, Xiao H, Tian F, Sheridan K, Wang L, et al. A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. Am J Respir Cell Mol Biol. 2001;24:90-98 pubmed
    ..comparisons to existing ESTs, and found to be identical to the 3' half of Wolf-Hirschhorn syndrome candidate 1, (WHSC1; also known as Multiple Myeloma SET domain [MMSET])...
  9. He C, Li F, Zhang J, Wu J, Shi Y. The methyltransferase NSD3 has chromatin-binding motifs, PHD5-C5HCH, that are distinct from other NSD (nuclear receptor SET domain) family members in their histone H3 recognition. J Biol Chem. 2013;288:4692-703 pubmed publisher
    The NSD (nuclear receptor SET domain-containing) family members, consisting of NSD1, NSD2 (MMSET/WHSC1), and NSD3 (WHSC1L1), are SET domain-containing methyltransferases and aberrant expression of each member has been implicated in ..
  10. Kuo A, Cheung P, Chen K, Zee B, Kioi M, Lauring J, et al. NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming. Mol Cell. 2011;44:609-20 pubmed publisher
    The histone lysine methyltransferase NSD2 (MMSET/WHSC1) is implicated in diverse diseases and commonly overexpressed in multiple myeloma due to a recurrent t(4;14) chromosomal translocation...
  11. Hudlebusch H, Skotte J, Santoni Rugiu E, Zimling Z, Lees M, Simon R, et al. MMSET is highly expressed and associated with aggressiveness in neuroblastoma. Cancer Res. 2011;71:4226-35 pubmed publisher
    b>MMSET (WHSC1/NSD2) is a SET domain-containing histone lysine methyltransferase the expression of which is deregulated in a subgroup of multiple myelomas with the t(4;14)(p16;q32) translocation associated with poor prognosis...
  12. Hudlebusch H, Santoni Rugiu E, Simon R, Ralfkiær E, Rossing H, Johansen J, et al. The histone methyltransferase and putative oncoprotein MMSET is overexpressed in a large variety of human tumors. Clin Cancer Res. 2011;17:2919-33 pubmed publisher
    Multiple myeloma SET (Suppressor of variegation, Enhancer of zeste, and Trithorax) domain (MMSET) is a histone lysine methyltransferase deregulated in a subgroup of multiple myelomas with the t(4;14)(p16;q32) translocation and poor ..
  13. Yang P, Guo L, Duan Z, Tepper C, Xue L, Chen X, et al. Histone methyltransferase NSD2/MMSET mediates constitutive NF-?B signaling for cancer cell proliferation, survival, and tumor growth via a feed-forward loop. Mol Cell Biol. 2012;32:3121-31 pubmed publisher
    ..We report here that histone methyltransferase NSD2 (also known as MMSET or WHSC1), a target of bromodomain protein ANCCA/ATAD2, acts as a strong coactivator of NF-?B by directly ..
  14. Kassambara A, Klein B, Moreaux J. MMSET is overexpressed in cancers: link with tumor aggressiveness. Biochem Biophys Res Commun. 2009;379:840-5 pubmed publisher
    b>MMSET is expressed ubiquitously in early development and its deletion is associated with the malformation syndrome called Wolf-Hirschhorn syndrome...
  15. Li J, Yin C, Okamoto H, Mushlin H, Balgley B, Lee C, et al. Identification of a novel proliferation-related protein, WHSC1 4a, in human gliomas. Neuro Oncol. 2008;10:45-51 pubmed publisher
    ..Wolf-Hirschhorn syndrome candidate 1 (WHSC1), along with 103 other proteins, was found only in the GBM proteomes...
  16. Marango J, Shimoyama M, Nishio H, Meyer J, Min D, Sirulnik A, et al. The MMSET protein is a histone methyltransferase with characteristics of a transcriptional corepressor. Blood. 2008;111:3145-54 pubmed
    b>MMSET, identified by its fusion to the IgH locus in t(4;14)-associated multiple myeloma, possesses domains found within chromatin regulators, including the SET domain...
  17. Bolomsky A, Hose D, Schreder M, Seckinger A, Lipp S, Klein B, et al. Insulin like growth factor binding protein 7 (IGFBP7) expression is linked to poor prognosis but may protect from bone disease in multiple myeloma. J Hematol Oncol. 2015;8:10 pubmed publisher
    ..IGFBP7 is associated with prognostically adverse chromosomal aberrations (t(4;14) and gain of 1q21), MMSET expression, and higher myeloma cell proliferation...
  18. Chen C, Chen C, Chern S, Wu P, Chen S, Lai S, et al. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones. Taiwan J Obstet Gynecol. 2017;56:821-826 pubmed publisher
    ..pregnancy was subsequently terminated, and a malformed fetus was delivered with typical Wolf-Hirschhorn syndrome (WHS) facial appearance and bilateral cleft lip and palate...
  19. Albert M, Durazo E, Slopen N, Zaslavsky A, Buring J, Silva T, et al. Cumulative psychological stress and cardiovascular disease risk in middle aged and older women: Rationale, design, and baseline characteristics. Am Heart J. 2017;192:1-12 pubmed publisher
    ..Disease Risk in Middle Aged and Older Women" study is embedded within the landmark Women's Health Study (WHS) follow-up cohort and seeks to evaluate the individual and joint effects of stressors (cumulative stress) on ..
  20. Fellous A, Earley R, Silvestre F. The Kdm/Kmt gene families in the self-fertilizing mangrove rivulus fish, Kryptolebias marmoratus, suggest involvement of histone methylation machinery in development and reproduction. Gene. 2019;687:173-187 pubmed publisher
    ..Kdm6a, Kdm6b, Kdm7a, Kdm8, Kdm9, UTY, Phf2 and Phf8) and forty-eight Kmt orthologues (Ezh1, Ezh2, Setd2, Nsd1, Nsd2, Nsd3, Ash1l, Kmt2e, Setd5, Prdm1, Prdm2, Prdm4, Prdm5, Prdm6, Prdm8, Prdm9, Prdm10, Prdm11, Prdm12, Prdm13, Prdm14,..
  21. Furukawa Y, Kikuchi J. Epigenetic mechanisms of cell adhesion-mediated drug resistance in multiple myeloma. Int J Hematol. 2016;104:281-92 pubmed publisher
    ..In addition, another histone methyltransferase MMSET was shown to confer drug resistance to myeloma cells by facilitating DNA repair...
  22. Zhang L, Ren M, Song G, Liu X, Zhang J, Zhang X. [Prenatal diagnosis of a case with 46,XX,del(4),dup(21)]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:50-52 pubmed publisher
    ..In addition, there was also an 8.43 Mb deletion in the 4p16.1p16.3 region, which involved FGFR3, LETM1, WHSC1 and WHSC2 and other 64 OMIM genes and spanned the Wolf-Hirschhorn syndrome region...
  23. Agarwal R, Denning D, Chakrabarti A. Estimation of the burden of chronic and allergic pulmonary aspergillosis in India. PLoS ONE. 2014;9:e114745 pubmed publisher
    ..using three different methods (Global Initiative against Asthma [GINA] report statement, World Health Survey [WHS] estimates, Indian study on the epidemiology of asthma and chronic bronchitis [INSEARCH])...
  24. Stubbs B, Koyanagi A, Thompson T, Veronese N, Carvalho A, Solomi M, et al. The epidemiology of back pain and its relationship with depression, psychosis, anxiety, sleep disturbances, and stress sensitivity: Data from 43 low- and middle-income countries. Gen Hosp Psychiatry. 2016;43:63-70 pubmed publisher
    ..Data on 190,593 community-dwelling adults aged ≥18 years from the World Health Survey (WHS) 2002-2004 were analyzed...
  25. Zuo Y, Wang H, Xu Y, Huang J, Wu S, Wu Y, et al. CRISPR/Cas9 mediated G4946E substitution in the ryanodine receptor of Spodoptera exigua confers high levels of resistance to diamide insecticides. Insect Biochem Mol Biol. 2017;89:79-85 pubmed publisher
    ..to chlorantraniliprole, cyantraniliprole and flubendiamide, respectively when compared to the wild type strain (WHS) of S. exigua...
  26. Ogihara K, Suzuki K, Madarame H. Primary Histiocytic Sarcoma of the Brain in an African Hedgehog (Atelerix albiventris). J Comp Pathol. 2017;157:241-245 pubmed publisher
    ..signs of progressive paresis/paralysis for approximately 6 months was diagnosed with 'wobbly hedgehog syndrome' (WHS)...
  27. Rice M, Rist P, Winter A, Kurth T, Tworoger S. Migraine and invasive epithelial ovarian cancer risk in the Nurses' Health Study II and the Women's Health Study. Int J Cancer. 2018;142:534-539 pubmed publisher
    ..ovarian cancer risk in two prospective cohorts, the Nurses' Health Study II (NHSII) and the Women's Health Study (WHS)...
  28. Kim S, Kee H, Eom G, Choe N, Kim J, Kim Y, et al. Characterization of a novel WHSC1-associated SET domain protein with H3K4 and H3K27 methyltransferase activity. Biochem Biophys Res Commun. 2006;345:318-23 pubmed
    ..Overexpression of WHISTLE repressed transcription of the SV40 promoter. Our results suggest that WHISTLE is a novel SET domain containing a protein with specific H3K4 and H3K27 HMTase activity. ..
  29. Jiao Y, Huang B, Chen Y, Hong G, Xu J, Hu C, et al. Integrated Analyses Reveal Overexpressed Notch1 Promoting Porcine Satellite Cells' Proliferation through Regulating the Cell Cycle. Int J Mol Sci. 2018;19: pubmed publisher
    ..hub genes are marker of proliferation Ki-67 (MKI67) and nuclear receptor binding SET domain protein 2 (WHSC1)...
  30. Koyanagi A, Stickley A. The association between psychosis and severe pain in community-dwelling adults: Findings from 44 low- and middle-income countries. J Psychiatr Res. 2015;69:19-26 pubmed publisher
    ..Data on 235,370 adults aged ≥18 years from the World Health Survey (WHS) 2002-2004 were analyzed...
  31. Grol Prokopczyk H, Verdes Tennant E, McEniry M, Ispány M. Promises and Pitfalls of Anchoring Vignettes in Health Survey Research. Demography. 2015;52:1703-28 pubmed publisher
    ..in the World Health Organization (WHO) Study on Global AGEing and Adult Health (SAGE) and World Health Survey (WHS) (representing 10 countries; n = 52,388), as well as similar vignettes in the Health and Retirement Study (HRS) (n =..
  32. Mahajan N, Wu H, Bennett R, Troche C, Licht J, Weber J, et al. Sabotaging of the oxidative stress response by an oncogenic noncoding RNA. FASEB J. 2017;31:482-490 pubmed publisher
    Overexpression of the multiple myeloma set domain (MMSET) Wolf-Hirschhorn syndrome candidate 1 gene, which contains an orphan box H/ACA class small nucleolar RNA, ACA11, in an intron, is associated with several cancer types, including ..
  33. García Carpizo V, Sarmentero J, Han B, Grana O, Ruiz Llorente S, Pisano D, et al. NSD2 contributes to oncogenic RAS-driven transcription in lung cancer cells through long-range epigenetic activation. Sci Rep. 2016;6:32952 pubmed publisher
    The histone methyltransferase NSD2/WHSC1/MMSET is overexpressed in a number of solid tumors but its contribution to the biology of these tumors is not well understood...
  34. Evans D, Zhang H, Ham H, Pei H, Lee S, Kim J, et al. MMSET is dynamically regulated during cell-cycle progression and promotes normal DNA replication. Cell Cycle. 2016;15:95-105 pubmed publisher
    ..Multiple myeloma SET domain-containing protein (MMSET, a.k.a. WHSC1, NSD2) is a histone methyltransferase that is frequently overexpressed in aggressive cancers and is essential for ..
  35. Oyer J, Huang X, Zheng Y, Shim J, Ezponda T, Carpenter Z, et al. Point mutation E1099K in MMSET/NSD2 enhances its methyltranferase activity and leads to altered global chromatin methylation in lymphoid malignancies. Leukemia. 2014;28:198-201 pubmed publisher
  36. Anel López L, García Álvarez O, Maroto Morales A, Iniesta Cuerda M, Ramón M, Soler A, et al. Reduced glutathione addition improves both the kinematics and physiological quality of post-thawed red deer sperm. Anim Reprod Sci. 2015;162:73-9 pubmed publisher
    ..Use of TRX at both concentrations (1 and 5mM; TRX1 and TRX5) resulted in lesser percentages of apoptotic sperm (12.4±1.1% and 11.7±0.9%) than GSH1, GSH5 (15...
  37. Vina E, Ran D, Ashbeck E, Ratzlaff C, Kwoh C. Race, sex, and risk factors in radiographic worsening of knee osteoarthritis. Semin Arthritis Rheum. 2018;47:464-471 pubmed publisher
    ..Whites (WHs) (694 males and 929 females) and African-Americans (AAs) (92 males and 167 females) at risk for radiographic KOA ..
  38. Gu C, Feng L, Peng H, Yang H, Feng Z, Yang Y. MTDH is an oncogene in multiple myeloma, which is suppressed by Bortezomib treatment. Oncotarget. 2016;7:4559-69 pubmed publisher
    ..Moreover, MTDH expression significantly increased in MMSET translocation (MS) subgroup, one of the high-risk subgroups in MM, and was significantly correlated with MM ..
  39. Nguyen H, Dong J, Panchakshari R, Kumar V, Alt F, Bories J. Histone methyltransferase MMSET promotes AID-mediated DNA breaks at the donor switch region during class switch recombination. Proc Natl Acad Sci U S A. 2017;114:E10560-E10567 pubmed publisher
    ..Here, we used gene targeted inactivation of histone methyltransferase (HMT) multiple myeloma SET domain (MMSET) in mouse B cells and the CH12F3 cell line to explore its role in CSR...
  40. Richelda R, Ronchetti D, Baldini L, Cro L, Viggiano L, Marzella R, et al. A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. Blood. 1997;90:4062-70 pubmed
    ..These findings indicate that the t(4; 14)(p16.3; q32) represents a novel, recurrent chromosomal translocation in MM, and suggest that the FGFR3 gene may be the target of this abnormality and thus contribute to tumorigenesis in MM. ..
  41. Yıldırım Buharalıoğlu G, Bond M, Sala Newby G, Hindmarch C, Newby A. Regulation of Epigenetic Modifiers, Including KDM6B, by Interferon-? and Interleukin-4 in Human Macrophages. Front Immunol. 2017;8:92 pubmed publisher
    ..However, either cytokine decreased AURKB, ESCO2, SETD6, SUV39H1, and WHSC1, whereas IFN-? alone decreased KAT2A, PRMT7, and SMYD3 mRNAs only after 18?h, which coincided with decreased cell ..
  42. Araki Y, Aizaki Y, Sato K, Oda H, Kurokawa R, Mimura T. Altered gene expression profiles of histone lysine methyltransferases and demethylases in rheumatoid arthritis synovial fibroblasts. Clin Exp Rheumatol. 2018;36:314-316 pubmed
    ..The gene expression of the 12 HKMTs, including MLL1, MLL3, SUV39H1, SUV39H2, PRDM2, EZH2, SETD2, NSD2, NSD3, SMYD4, DOT1, and PR-set7, that catalyse the methylation of H3K4, H3K9, H3K27, H3K36, H3K79, or H4K20 was ..
  43. Rameezdeen R, Elmualim A. The Impact of Heat Waves on Occurrence and Severity of Construction Accidents. Int J Environ Res Public Health. 2017;14: pubmed publisher
    ..It is recommended that the implementation of adequate preventative measures in small-sized companies and civil engineering sites, targeting mainly old age workers could be a priority for Work, Health and Safety (WHS) policies.
  44. Ruitenburg M, Plat M, Frings Dresen M, Sluiter J. Feasibility and acceptability of a workers' health surveillance program for hospital physicians. Int J Occup Med Environ Health. 2015;28:731-9 pubmed publisher
    A Workers' Health Surveillance (WHS) program is an occupational health strategy used to detect and address the health of individual workers to improve their ability to work...
  45. Zhuang X, Bai W, Song J, Zhan S, Qian X, Shi W, et al. Multiatlas whole heart segmentation of CT data using conditional entropy for atlas ranking and selection. Med Phys. 2015;42:3822-33 pubmed publisher
    ..Whole heart segmentation (WHS) plays a vital role in developing new clinical applications of cardiac CT...
  46. Poulin M, Schneck J, Matico R, McDevitt P, Huddleston M, Hou W, et al. Transition state for the NSD2-catalyzed methylation of histone H3 lysine 36. Proc Natl Acad Sci U S A. 2016;113:1197-201 pubmed publisher
    Nuclear receptor SET domain containing protein 2 (NSD2) catalyzes the methylation of histone H3 lysine 36 (H3K36). It is a determinant in Wolf-Hirschhorn syndrome and is overexpressed in human multiple myeloma...
  47. Ho K, Markham L, Twede H, Lortz A, Olson L, Sheng X, et al. A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. Epilepsy Behav. 2018;81:55-61 pubmed publisher
    Seizures are present in over 90% of infants and children with Wolf-Hirschhorn syndrome (WHS). When present, they significantly affect quality of life...
  48. Malgeri U, Baldini L, Perfetti V, Fabris S, Vignarelli M, Colombo G, et al. Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts. Cancer Res. 2000;60:4058-61 pubmed
    ..3; q32) translocation in multiple myeloma (MM) that leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes...
  49. Prince L, Andrews J, Basu S, Goldhaber Fiebert J. Risk of self-reported symptoms or diagnosis of active tuberculosis in relationship to low body mass index, diabetes and their co-occurrence. Trop Med Int Health. 2016;21:1272-1281 pubmed publisher
    ..Using India's National Family Health Survey (NFHS), wave 3 and World Health Survey (WHS) data, we examined their relationships to support projection of future trends and targeted control efforts...
  50. Allan J, Kormos C, Jaeger T, Venter O, Bertzky B, Shi Y, et al. Gaps and opportunities for the World Heritage Convention to contribute to global wilderness conservation. Conserv Biol. 2017;: pubmed publisher
    ..One-quarter of natural and mixed (i.e., sites of both natural and cultural value) World Heritage Sites (WHS) contained wilderness (total of 545,307 km2 ), which is approximately 1...
  51. Peri S, Izumchenko E, Schubert A, Slifker M, Ruth K, Serebriiskii I, et al. NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis. Nat Commun. 2017;8:1772 pubmed publisher
    ..both subclasses, better prognosis is strongly associated with damaging mutations of the methyltransferases NSD1 and NSD2, with findings confirmed in an independent validation cohort consisting of 63 laryngeal cancer patients...
  52. van Holland B, Brouwer S, de Boer M, Reneman M, Soer R. Process Evaluation of a Workers' Health Surveillance Program for Meat Processing Workers. J Occup Rehabil. 2017;27:307-318 pubmed publisher
    Objective To evaluate the implementation process of a workers' health surveillance (WHS) program in a Dutch meat processing company. Methods Workers from five plants were eligible to participate in the WHS program...
  53. Tosi P, Terragna C, Testoni N, Zamagni E, Renzulli M, Tacchetti P, et al. Evaluation of bone disease in multiple myeloma patients carrying the t(4;14) chromosomal translocation. Eur J Haematol. 2008;80:31-6 pubmed
    ..The presence of IgH/MMSET fusion gene as a surrogate marker for t(4;14), was detected in 11 patients (20...
  54. van Capelleveen J, Bochem A, Boekholdt S, Mora S, Hoogeveen R, Ballantyne C, et al. Association of High-Density Lipoprotein-Cholesterol Versus Apolipoprotein A-I With Risk of Coronary Heart Disease: The European Prospective Investigation Into Cancer-Norfolk Prospective Population Study, the Atherosclerosis Risk in Communities Study,. J Am Heart Assoc. 2017;6: pubmed publisher
    ..Results were validated using data from the ARIC (Atherosclerosis Risk in Communities) and WHS (Women's Health Study) cohorts, comprising 15 494 and 27 552 individuals, respectively...
  55. Tamburini P, Mazzoli D, Stagni R. Towards an objective assessment of motor function in sub-acute stroke patients: Relationship between clinical rating scales and instrumental gait stability indexes. Gait Posture. 2018;59:58-64 pubmed publisher
    ..All were assessed with 6 rating scales (MI, TCT, MRI, FAC, WHS, CIRS) and 2 functional tests (2MWT and TUG)...
  56. Gutmajster E, Rokicka A. [Genetic determination of Wolf-Hirschhorn syndrome ]. Wiad Lek. 2002;55:706-10 pubmed
    ..between the syndrome phenotype and cytogenetic abnormalities, through gradual shortening of the length of the critical region WHSCR (finally up to 165 kb), and sequencing it, at least 2 genes (WHSC1 and WHSC2) were identified.
  57. Kim S, Kee H, Choe N, Kim J, Kook H, Kook H, et al. The histone methyltransferase activity of WHISTLE is important for the induction of apoptosis and HDAC1-mediated transcriptional repression. Exp Cell Res. 2007;313:975-83 pubmed
    ..Our results suggest that HMTase WHISTLE induces apoptosis in an HMTase activity-dependent manner and represses transcription of target genes through HDAC1 recruitment. ..
  58. Alvarez F, El Sayed A. National income inequality and ineffective health insurance in 35 low- and middle-income countries. Health Policy Plan. 2017;32:487-492 pubmed publisher
    ..used Standardized World Income Inequality Database (SWIID) Gini coefficients for 35 LMICs and World Health Survey (WHS) data about insurance from 2002 to 2004 to fit multivariable regression models of the prevalence of ineffective ..
  59. Hajdu I, Ciccia A, Lewis S, Elledge S. Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. Proc Natl Acad Sci U S A. 2011;108:13130-4 pubmed publisher
    ..The WHSC1 gene is located in this region, and its loss is believed to be responsible for a number of WHS characteristics...
  60. Shah M, Martinez Garcia E, Phillip J, Chambliss A, Popovic R, Ezponda T, et al. MMSET/WHSC1 enhances DNA damage repair leading to an increase in resistance to chemotherapeutic agents. Oncogene. 2016;35:5905-5915 pubmed publisher
    b>MMSET/WHSC1 is a histone methyltransferase (HMT) overexpressed in t(4;14)+ multiple myeloma (MM) patients, believed to be the driving factor in the pathogenesis of this MM subtype...
  61. Sankaran S, Wilkinson A, Elias J, Gozani O. A PWWP Domain of Histone-Lysine N-Methyltransferase NSD2 Binds to Dimethylated Lys-36 of Histone H3 and Regulates NSD2 Function at Chromatin. J Biol Chem. 2016;291:8465-74 pubmed publisher
    ..Here we identify a PWWP domain within the histone lysine methyltransferase and oncoprotein NSD2 that preferentially binds to nucleosomes containing H3K36me2...
  62. Lee I, Shiroma E, Evenson K, Kamada M, LaCroix A, Buring J. Accelerometer-Measured Physical Activity and Sedentary Behavior in Relation to All-Cause Mortality: The Women's Health Study. Circulation. 2017;: pubmed publisher
    ..Here, we present data from the WHS (Women's Health Study)...
  63. Hudlebusch H, Theilgaard Monch K, Lodahl M, Johnsen H, Rasmussen T. Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. Br J Haematol. 2005;130:700-8 pubmed
    ..in multiple myeloma (MM) results in a dysregulation of two potential oncogenes: multiple myeloma SET domain (MMSET) and fibroblast growth factor receptor 3 (FGFR3)...
  64. Deeb A. Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome. Case Rep Endocrinol. 2017;2017:3892467 pubmed publisher
    Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4...
  65. Andersen E, Carey J, Earl D, Corzo D, Suttie M, Hammond P, et al. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. Eur J Hum Genet. 2014;22:464-70 pubmed publisher
    ..Within this region, haploinsufficiency of the genes WHSC1 and LETM1 is thought to be a major contributor to the pathogenesis of WHS...
  66. Yuan G, Ma B, Yuan W, Zhang Z, Chen P, Ding X, et al. Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases. J Biol Chem. 2013;288:30832-42 pubmed publisher
    ..Notably, all of the H3K36-specific methyltransferases, including ASH1L, HYPB, NSD1, and NSD2 were inhibited by ubH2A, whereas the other histone methyltransferases, including PRC2, G9a, and Pr-Set7 were not ..
  67. Zheng Y, Fornelli L, Compton P, Sharma S, Canterbury J, Mullen C, et al. Unabridged Analysis of Human Histone H3 by Differential Top-Down Mass Spectrometry Reveals Hypermethylated Proteoforms from MMSET/NSD2 Overexpression. Mol Cell Proteomics. 2016;15:776-90 pubmed publisher
    ..from human cell lines derived from multiple myeloma patients with overexpression of the histone methyltransferase MMSET as the result of a t(4;14) chromosomal translocation...
  68. Mirabella F, Murison A, Aronson L, Wardell C, Thompson A, Hanrahan S, et al. A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complex. PLoS ONE. 2014;9:e99493 pubmed publisher
    ..MMSET encodes two major protein isoforms. We have characterized the role of the shorter isoform (REIIBP) in myeloma cells and identified a clear and novel interaction of REIIBP with members of the SMN (survival of ..
  69. Assis M, Gomes V, Balista W, Freitas R. Use of performance indicators to assess the solid waste management of health services. An Acad Bras Cienc. 2017;89:2445-2460 pubmed publisher
    ..Method to prioritize such indicators as the potential improvement in health services waste management process - WHS and thus environmental analysis was performed with the use of a template for SWOT analysis...
  70. White Al Habeeb N, Garcia J, Fleshner N, Bapat B. Metformin Elicits Antitumor Effects and Downregulates the Histone Methyltransferase Multiple Myeloma SET Domain (MMSET) in Prostate Cancer Cells. Prostate. 2016;76:1507-1518 pubmed publisher
    ..The effects of the top ranked gene, MMSET, on the proliferative and invasive capabilities of PCa cells were investigated via siRNA knockdown alone and also ..
  71. Anderson Reeves T, Goodman J, BRAGG B, Leruth C. House Parties: An Innovative Model for Outreach and Community-Based Health Education. Matern Child Health J. 2017;21:75-80 pubmed publisher
    ..model, as a community-based workshop approach to health education developed by the Westside Healthy Start program (WHS) in Chicago, Illinois...
  72. Rauch A, Schellmoser S, Kraus C, Dorr H, Trautmann U, Altherr M, et al. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet. 2001;99:338-42 pubmed
    ..A breakpoint-spanning PCR assay defined the distal breakpoint as disrupting the WHSC1 gene within intron 5, exactly after an AluJb repeat...
  73. Stratton C, Poulin M, Schramm V. Binding Isotope Effects for Interrogating Enzyme-Substrate Interactions. Methods Enzymol. 2017;596:1-21 pubmed publisher
    ..approach is described in the context of our recent studies on the substrate bonding environment for the human protein lysine N-methyltransferase NSD2. A summary of BIE effects provides context for the range of experimental values.
  74. Li J, Li T, Lu Y, Shen G, Guo H, Wu J, et al. MiR-2392 suppresses metastasis and epithelial-mesenchymal transition by targeting MAML3 and WHSC1 in gastric cancer. FASEB J. 2017;31:3774-3786 pubmed publisher
    ..inhibited GC invasion and metastasis in vitro and in vivo We identified MAML3 and WHSC1 as novel targets of miR-2392, and knockdown of MAML3 and WHSC1 had the same antimetastatic effect as that of ..
  75. Perfetti V, Coluccia A, Intini D, Malgeri U, Vignarelli M, Casarini S, et al. Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. Am J Pathol. 2001;158:1599-603 pubmed
    ..fibroblast growth-factor receptor 3 (FGFR3), and the putative transcription factor multiple myeloma SET domain (MMSET), and to the generation of IGH/MMSET hybrid transcripts...
  76. Wu S, Pfeiffer R, Ahn I, Mailankody S, Sonneveld P, van Duin M, et al. Impact of Genes Highly Correlated with MMSET Myeloma on the Survival of Non-MMSET Myeloma Patients. Clin Cancer Res. 2016;22:4039-44 pubmed publisher
    ..prognosis of multiple myeloma with t(4;14) is driven by the fusion of genes encoding multiple myeloma SET domain (MMSET) and immunoglobulin heavy chain...
  77. Vougiouklakis T, Hamamoto R, Nakamura Y, Saloura V. The NSD family of protein methyltransferases in human cancer. Epigenomics. 2015;7:863-74 pubmed publisher
    The NSD family of protein lysine methyltransferases consists of NSD1, NSD2/WHSC1/MMSET and NSD3/WHSC1L1. NSD2 haploinsufficiency causes Wolf-Hirschhorn syndrome, while NSD1 mutations lead to the Sotos syndrome...
  78. Intini D, Fabris S, Storlazzi T, Otsuki T, Ciceri G, Verdelli D, et al. Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. Br J Haematol. 2004;126:437-9 pubmed
  79. Morishita M, Mevius D, di Luccio E. In vitro histone lysine methylation by NSD1, NSD2/MMSET/WHSC1 and NSD3/WHSC1L. BMC Struct Biol. 2014;14:25 pubmed publisher
    ..The NSD family of HMTases comprised of three members (NSD1, NSD2/MMSET/WHSC1, and NSD3/WHSC1L) are oncogenes aberrantly expressed in several cancers, suggesting their potential to serve as ..
  80. Chesi M, Nardini E, Brents L, Schrock E, Ried T, Kuehl W, et al. Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nat Genet. 1997;16:260-4 pubmed
    ..We propose that after the t(4;14) translocation, somatic mutation during tumour progression frequently generates in FGFR3 protein that is active in the absence of ligand. ..
  81. Yang S, Zhang Y, Meng F, Liu Y, Xia B, Xiao M, et al. Overexpression of multiple myeloma SET domain (MMSET) is associated with advanced tumor aggressiveness and poor prognosis in serous ovarian carcinoma. Biomarkers. 2013;18:257-63 pubmed publisher
    Multiple myeloma SET domain (MMSET) has been shown to be overexpressed in many different cancer tissues...
  82. Pei H, Wu X, Liu T, Yu K, Jelinek D, Lou Z. The histone methyltransferase MMSET regulates class switch recombination. J Immunol. 2013;190:756-63 pubmed publisher
    ..Of interest, loss of the MMSET gene (also known as WHSC1) is considered to be responsible for the core phenotypes of this disease...
  83. Zhou P, Wu L, Wu K, Jiang W, Li J, Zhou L, et al. Overexpression of MMSET is correlation with poor prognosis in hepatocellular carcinoma. Pathol Oncol Res. 2013;19:303-9 pubmed publisher
    The multiple myeloma SET domain (MMSET) involved in the t(4;14)(p16;q32) chromosomal translocation encodes a histone lysine methyltransferase...
  84. Min D, Ezponda T, Kim M, Will C, Martinez Garcia E, Popovic R, et al. MMSET stimulates myeloma cell growth through microRNA-mediated modulation of c-MYC. Leukemia. 2013;27:686-94 pubmed publisher
    ..Overexpression of the histone methyltransferase MMSET (WHSC1/NSD2), due to t(4;14) chromosomal translocation, promotes the proliferation of MM cells along with global changes ..
  85. Wu H, Zeng H, Lam R, Tempel W, Amaya M, Xu C, et al. Structural and histone binding ability characterizations of human PWWP domains. PLoS ONE. 2011;6:e18919 pubmed publisher
    The PWWP domain was first identified as a structural motif of 100-130 amino acids in the WHSC1 protein and predicted to be a protein-protein interaction domain...