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Year Number of Results
1986 1
2001 1
2004 2
2006 1
2007 1
2010 1
2011 1
2012 2
2013 1
2015 3
2016 2
2017 1
2018 2
2021 1
2022 2
2023 1
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19 results

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Page 1
In situ localization of human fibronectin (FN) genes to chromosome regions 2p14----p16, 2q34----q36, and 11q12.1----q13.5 in germ line cells, but to chromosome 2 sites only in somatic cells.
Jhanwar SC, Jensen JT, Kaelbling M, Chaganti RS, Klinger HP. Jhanwar SC, et al. Cytogenet Cell Genet. 1986;41(1):47-53. doi: 10.1159/000132195. Cytogenet Cell Genet. 1986. PMID: 3943369
Two regions of hybridization on pachytene and somatic chromosome 2 (p14----p16 and q34----q36) were found, but not in all individuals. A third region of hybridization was found at 11q12.1----q13.5 in meiotic, but not with significant frequency in somatic chromosomes …
Two regions of hybridization on pachytene and somatic chromosome 2 (p14----p16 and q34----q36) were found, but not in all individuals. A thi …
Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype.
Inzaghi E, Deodati A, Loddo S, Mucciolo M, Verdecchia F, Sallicandro E, Catino G, Cappa M, Novelli A, Cianfarani S. Inzaghi E, et al. J Endocrinol Invest. 2022 Jan;45(1):79-87. doi: 10.1007/s40618-021-01617-1. Epub 2021 Jul 13. J Endocrinol Invest. 2022. PMID: 34255311
In two different patients, two microduplications involving 10q21.3 and Xp11.3 region were observed. A further female patient showed both an 11q12.1 and an Xq27.1 microduplication, inherited from her mother and from her father, respectively. ...
In two different patients, two microduplications involving 10q21.3 and Xp11.3 region were observed. A further female patient showed both an …
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. Kenny EE, et al. PLoS Genet. 2012;8(3):e1002559. doi: 10.1371/journal.pgen.1002559. Epub 2012 Mar 8. PLoS Genet. 2012. PMID: 22412388 Free PMC article.
Novel signals detected among AJs were mapped to chromosomes 5q21.1 (rs7705924, combined p = 210-8; combined odds ratio OR = 1.48), 2p15 (rs6545946, p = 710-9; OR = 1.16), 8q21.11 (rs12677663, p = 210-8; OR = 1.15), 10q26.3 (rs10734105, p = 310-8; OR = 1.27), and 11q12.1 …
Novel signals detected among AJs were mapped to chromosomes 5q21.1 (rs7705924, combined p = 210-8; combined odds ratio OR = 1.48), 2p15 (rs6 …
Phosphoproteome Characterization of Human Colorectal Cancer SW620 Cell-Derived Exosomes and New Phosphosite Discovery for C-HPP.
Guo J, Cui Y, Yan Z, Luo Y, Zhang W, Deng S, Tang S, Zhang G, He QY, Wang T. Guo J, et al. J Proteome Res. 2016 Nov 4;15(11):4060-4072. doi: 10.1021/acs.jproteome.6b00391. Epub 2016 Aug 11. J Proteome Res. 2016. PMID: 27470641
With stringent data quality control, 313 phosphoproteins with 1091 phosphosites were confidently identified from the SW620 exosome, from which 202 new phosphosites were detected. Exosomal phosphoproteins were significantly enriched in the 11q12.1-13.5 region of chro …
With stringent data quality control, 313 phosphoproteins with 1091 phosphosites were confidently identified from the SW620 exosome, from whi …
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.
Vijai J, Kirchhoff T, Schrader KA, Brown J, Dutra-Clarke AV, Manschreck C, Hansen N, Rau-Murthy R, Sarrel K, Przybylo J, Shah S, Cheguri S, Stadler Z, Zhang L, Paltiel O, Ben-Yehuda D, Viale A, Portlock C, Straus D, Lipkin SM, Lacher M, Robson M, Klein RJ, Zelenetz A, Offit K. Vijai J, et al. PLoS Genet. 2013;9(1):e1003220. doi: 10.1371/journal.pgen.1003220. Epub 2013 Jan 17. PLoS Genet. 2013. PMID: 23349640 Free PMC article.
Using a two-stage GWAS, we tested 530,583 SNPs in 944 cases of lymphoma, including 282 familial cases, and 4,044 public shared controls, followed by genotyping of 50 SNPs in 1,245 cases and 2,596 controls. A novel region on 11q12.1 showed association with combined l …
Using a two-stage GWAS, we tested 530,583 SNPs in 944 cases of lymphoma, including 282 familial cases, and 4,044 public shared controls, fol …
Identification of novel susceptibility loci associated with hepatitis B surface antigen seroclearance in chronic hepatitis B.
Kim TH, Lee EJ, Choi JH, Yim SY, Lee S, Kang J, Lee YR, Lee HA, Choi HS, Kim ES, Keum B, Seo YS, Yim HJ, Jeen YT, Chun HJ, Lee HS, Kim CD, Woo HG, Um SH. Kim TH, et al. PLoS One. 2018 Jul 5;13(7):e0199094. doi: 10.1371/journal.pone.0199094. eCollection 2018. PLoS One. 2018. PMID: 29975729 Free PMC article.
RESULTS: We identified three single nucleotide polymorphisms, rs7944135 (P = 4.17 10-6, odds ratio [OR] = 4.16, 95% confidence interval [CI] = 2.27-7.63) at 11q12.1, rs171941 (P = 3.5210-6, OR = 3.69, 95% CI = 2.13-6.42) at 5q14.1, and rs6462008 (P = 3.4010-6, OR = …
RESULTS: We identified three single nucleotide polymorphisms, rs7944135 (P = 4.17 10-6, odds ratio [OR] = 4.16, 95% confidence interval [CI] …
Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations.
Yang TL, Guo Y, Zhang JG, Xu C, Tian Q, Deng HW. Yang TL, et al. J Bone Miner Res. 2015 Nov;30(11):2119-26. doi: 10.1002/jbmr.2558. Epub 2015 Jun 16. J Bone Miner Res. 2015. PMID: 25983029 Free PMC article.
Among these, we detected genome-wide significant associations between BMD and 6 ROHs, including ROH1q31.3, 1p31.1, 3q26.1, 11q12.1, 21q22.1 and 15q22.3 (combined P = 6.29 10(-5)-3.17 10(-8)). ...To investigate the functional relevance of the identified ROHs, we perf …
Among these, we detected genome-wide significant associations between BMD and 6 ROHs, including ROH1q31.3, 1p31.1, 3q26.1, 11q12.1 …
A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Ryabets-Lienhard A, Panjawatanan P, Vogt K, Ji J, Georgia S, Pitukcheewanont P. Ryabets-Lienhard A, et al. Calcif Tissue Int. 2023 Apr;112(4):518-523. doi: 10.1007/s00223-022-01053-0. Epub 2022 Dec 27. Calcif Tissue Int. 2023. PMID: 36575358
While 60-70% of the POH patients have paternally inherited, inactivating pathogenic variants in GNAS, the remaining 30-40% have no known etiology. FAM111B pathogenic variants, located on chromosome 11q12.1, cause POIKTMP (hereditary fibrosing poikiloderma with tendo …
While 60-70% of the POH patients have paternally inherited, inactivating pathogenic variants in GNAS, the remaining 30-40% have no known eti …
ETV6-LPXN fusion transcript generated by t(11;12)(q12.1;p13) in a patient with relapsing acute myeloid leukemia with NUP98-HOXA9.
Abe A, Yamamoto Y, Iba S, Kanie T, Okamoto A, Tokuda M, Inaguma Y, Yanada M, Morishima S, Mizuta S, Akatsuka Y, Okamoto M, Kameyama T, Mayeda A, Emi N. Abe A, et al. Genes Chromosomes Cancer. 2016 Mar;55(3):242-50. doi: 10.1002/gcc.22327. Epub 2015 Nov 6. Genes Chromosomes Cancer. 2016. PMID: 26542893
Using 3'-RACE PCR analysis, we found that ETV6 was fused to LPXN at 11q12.1, which encodes leupaxin. ETV6-LPXN, an in-frame fusion between exon 4 of ETV6 and exon 2 of LPXN, did not transform the interleukin-3-dependent 32D myeloid cell line to cytokine independence …
Using 3'-RACE PCR analysis, we found that ETV6 was fused to LPXN at 11q12.1, which encodes leupaxin. ETV6-LPXN, an in-frame fu …
Molecular characterization of acquired tolerance of tumor cells to picropodophyllin (PPP).
Hashemi J, Worrall C, Vasilcanu D, Fryknäs M, Sulaiman L, Karimi M, Weng WH, Lui WO, Rudduck C, Axelson M, Jernberg-Wiklund H, Girnita L, Larsson O, Larsson C. Hashemi J, et al. PLoS One. 2011 Mar 14;6(3):e14757. doi: 10.1371/journal.pone.0014757. PLoS One. 2011. PMID: 21423728 Free PMC article.
Abnormalities observed in both tolerant derivatives include amplification/gain of 5q11.2, gain of 11q12.1-q14.3 and gain of 13q33.3-qter. Using Nexus software analysis we combined the array-CGH data with data from gene expression profilings and identified genes that …
Abnormalities observed in both tolerant derivatives include amplification/gain of 5q11.2, gain of 11q12.1-q14.3 and gain of 13 …
19 results