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Human Molecular Geneticsжурнал

Статьи, опубликованные в журнале

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  • 2019 LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome
  • Marakhonov Andrey V., Vasilyeva Tatyana A., Voskresenskaya Anna A., Sukhanova Natella V., Kadyshev Vitaly V., Kutsev Sergey I., Zinchenko Rena A.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 28, № 19, с. 3323-3326 DOI
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  • 2018 Benfotiamine treatment activates the Nrf2/ARE pathway and is neuroprotective in a transgenic mouse model of tauopathy
  • Tapias V., Jainuddin S., Ahuja M., Stack C., Elipenahli C., Vignisse J., Gerges M., Starkova N., Xu H., Starkov AA, Bettendorff L., Hushpulian DM, Smirnova NA, Gazaryan IG, Kaidery NA, Wakade S., Calingasan NY, Thomas B., GE Gibson, Dumont M., MF Beal
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 7, № 16, с. 2874-2892 DOI
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  • 2016 Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
  • Sobrier ML, Perez C., Leheup B., Bouceba T., Duquesnoy P., Chopin B., Sizova D., Penza A.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 25, № 3, с. 472-483
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  • 2015 Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains
  • Bai G., Cheung I., Shulha HP, Coelho JE, Li P., Dong X., Jakovcevski M., Wang Y., Grigorenko A., Jiang Y., Hoss A., Patel K., Zheng M., Rogaev E., Myers RH, Weng Z., Akbarian S., Chen JF
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 24, № 5, с. 1441-1456 DOI
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  • 2014 Genome-wide association study of selenium concentrations
  • Cornelis Marilyn C., Fornage Myriam, Foy Millennia, Xun Pengcheng, Gladyshev Vadim N., Morris Steve, Chasman Daniel I., Hu Frank B., Rimm Eric B., Kraft Peter, Jordan Joanne M., Mozaffarian Dariush, He Ka
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 24, № 5, с. 1469-1477 DOI
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  • 2013 Functional implications of splicing polymorphisms in the human genome
  • Kurmangaliyev Yerbol Z., Sutormin Roman A., Naumenko Sergey A., Bazykin Georgii A., Gelfand Mikhail S.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 22, № 17, с. 3449-3459 DOI
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  • 2012 A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart
  • Ibrahim M., Siedlecka U., Buyandelger B., Harada M., Rao C., Moshkov A., Bhargava A., Schneider M., Yacoub M.H., Gorelik J.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 22, № 2, с. 372-383 DOI
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  • 2012 A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23
  • Wu X., Scelo G., Purdue M.P., Rothman N., Johansson M., Ye Y., Wang Z., Zelenika D., Moore L.E., Wood C.G., Prokhortchouk E., Gaborieau V., Jacobs K.B., Chow W.H., Toro J.R., Zaridze D., Lin J., Lubinski J., Trubicka J., Szeszenia-dabrowska N., Lissowska J., Rudnai P., Fabianova E., Mates D., Jinga V., Bencko V., Slamova A., Holcatova I., Navratilova M., Janout V., Boffetta P., Colt J.S., Davis F.G., Schwartz K.L., Banks R.E., Selby P.J., Harnden P., Berg C.D., Hsing A.W., Grubb Robert L.R.L, Boeing H., Vineis P., Clavel-chapelon F., Palli D., Tumino R., Krogh V., Panico S., Duell E.J., Quirós J.R., Sanchez M., Navarro C., Ardanaz E., Dorronsoro M., Khaw K.T., Allen N.E., Bueno-de-mesquita H.B., Peeters P.H.M, Trichopoulos D., Linseisen J., Ljungberg B., Overvad K., Tjonneland A., Romieu I., Riboli E., Stevens V.L., Thun M.J., Diver W.R., Gapstur S.M., Pharoah P.D., Easton D.F., Albanes D., Virtamo J., Vatten L., Hveem K., Fletcher T., Koppova K., Cussenot O., Cancel-tassin G., Benhamou S., Hildebrandt M.A., Pu X., Foglio M., Lechner D., Hutchinson A., Yeager M., Fraumeni Jr J.F., Lathrop M., Skryabin K.G., McKay J.D., Gu J., Brennan P., Chanock S.J.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 21, № 2, с. 456-462 DOI
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  • 2012 The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma
  • Han SS, Yeager M., Moore LE, Wei MH, Pfeiffer R., Toure O., Purdue MP, Johansson M., Scelo G., Chung CC, Gaborieau V., Zaridze D., Schwartz K., Szeszenia-Dabrowska N., Davis F., Bencko V., Colt JS, Janout V., Matveev V., Foretova L., Mates D., Navratilova M., Boffetta P., Berg CD, Grubb RL3rd, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Albanes D., Weinstein SJ, Virtamo J., Burdett L., Brisuda A., McKay JD, Fraumeni JF Jr, Chatterjee N., Rosenberg PS, Rothman N., Brennan P., Chow WH, Tucker MA, Chanock SJ
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 21, № 5, с. 1190-1200
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  • 2011 Novel mechanism of Hsp70 chaperone-mediated prevention of polyglutamine aggregates in a cellular model of huntington disease
  • Guzhova Irina V., Lazarev Vladimir F., Kaznacheeva Anastasia V., Ippolitova Maria V., Muronetz Vladimir I., Kinev Alexander V., Margulis Boris A.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 20, № 20, с. 3953-3963
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  • 2008 A set of differentially expressed miRNAs, including miR-30a-5p, act as post-transcriptional inhibitors of BDNF in prefrontal cortex
  • Mellios N., Huang HS, Grigorenko A., Rogaev E., Akbarian S.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 17, № 19, с. 3030-3042
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  • 2007 Lymphotoxin-beta regulates periderm differentiation during embryonic skin development
  • Cui CY, Kunisada M., Esibizione D., Grivennikov SI, Piao Y., Nedospasov SA, Schlessinger D.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 16, № 21, с. 2583-2590 DOI
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  • 2006 Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs
  • Bernat John A., Crawford Gregory E., Ogurtsov Aleksey Y., Collins Francis S., Ginsburg David, Kondrashov Alexey S.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 15, № 13, с. 2098-2105
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  • 2005 Distribution of the strength of selection against amino acid replacements in human proteins
  • Yampolsky L.Y., Kondrashov F.A., Kondrashov A.S.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 14, № 21, с. 3191-3201
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  • 2003 Low conservation of alternative splicing patterns in the human and mouse genomes
  • Nurtdinov R.N., Artamonova I.I., Mironov A.A., Gelfand M.S.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 12, № 11, с. 1313-1320
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  • 2002 Classification of common conserved sequences in mammalian intergenic regions
  • Kondrashov A.S., Shabalina S.A.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 11, № 6, с. 669-674
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  • 2001 Prediction of deleterious human alleles
  • Sunyaev S., Ramensky V., Koch I., Lathe W., Kondrashov A.S., Bork P.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 10, № 6, с. 591-597
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  • 1996 Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant
  • Sherrington R., Froelich S., Sorbi S., Campion D., Chi H., Rogaeva EA, Levesque G., Rogaev EI, Lin C., Liang Y., Ikeda M., Mar L., Brice A., Agid Y., Percy ME, Clerget-Darpoux F., Piacentini S., Marcon G., Nacmias B., Amaducci L., Frebourg T., Lannfelt L., Rommens JM, St George-Hyslop PH
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 5, № 7, с. 985-988
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  • 1996 Linkage of polymorphic congenital cataract to the gamma-crystallin locus on human chromosome 2q33-35,
  • Rogaev E., Rogaeva E., Korovaitseva G., Farrer L., Petrin A., Keryanov S., Turaeva S., Chumakov I., St George-Hyslop P., Ginter E.l.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 5, с. 699-703
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  • 1995 Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
  • Takiyama Y., Igarashi S., Rogaeva EA, Endo K., Rogaev EI, Tanaka H., Sherrington R., Sanpei K., Liang Y., Saito M., et al.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 4, № 7, с. 1137-1146
• • 1992 Dinucleotide repeat polymorphisms at the SLPI, HBE1 and MYH7
  • Rogaev E.I., Keryanov S.A., Maliako Y.K.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 1, № 4
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  • 1992 Unusual variability of the complex dinucleotide repeat block in SPN locus
  • Rogaev E.I., Kerianov S.A.
  • в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 1, № 8, с. 657-657