Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 2

Results: 28

Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 408, doi. 10.1093/hmg/ddt433

By:

Middlebrooks, Candace D.;
Mukhopadhyay, Nandita;
Tinker, Stuart W.;
Allen, Emily Graves;
Bean, Lora J. H.;
Begum, Ferdouse;
Chowdhury, Reshmi;
Cheung, Vivian;
Doheny, Kimberly;
Adams, Marcia;
Feingold, Eleanor;
Sherman, Stephanie L.

Publication type:

Article

CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 434, doi. 10.1093/hmg/ddt435

By:

Micucci, Joseph A.;
Layman, Wanda S.;
Hurd, Elizabeth A.;
Sperry, Ethan D.;
Frank, Sophia F.;
Durham, Mark A.;
Swiderski, Donald L.;
Skidmore, Jennifer M.;
Scacheri, Peter C.;
Raphael, Yehoash;
Martin, Donna M.

Publication type:

Article

Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 514, doi. 10.1093/hmg/ddt452

By:

Wert, Katherine J.;
Sancho-Pelluz, Javier;
Tsang, Stephen H.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt648
Publication type:: Article

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 283, doi. 10.1093/hmg/ddt418

By:

Murray, Lydia S.;
Lu, Yinhui;
Taggart, Aislynn;
Van Regemorter, Nicole;
Vilain, Catheline;
Abramowicz, Marc;
Kadler, Karl E.;
Van Agtmael, Tom

Publication type:

Article

Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 342, doi. 10.1093/hmg/ddt425

By:

Nizzardo, Monica;
Simone, Chiara;
Rizzo, Federica;
Ruggieri, Margherita;
Salani, Sabrina;
Riboldi, Giulietta;
Faravelli, Irene;
Zanetta, Chiara;
Bresolin, Nereo;
Comi, Giacomo P.;
Corti, Stefania

Publication type:

Article

Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 546, doi. 10.1093/hmg/ddt431

By:

Fan, Qiao;
Wojciechowski, Robert;
Kamran Ikram, M.;
Cheng, Ching-Yu;
Chen, Peng;
Zhou, Xin;
Pan, Chen-Wei;
Khor, Chiea-Chuen;
Tai, E-Shyong;
Aung, Tin;
Wong, Tien-Yin;
Teo, Yik-Ying;
Saw, Seang-Mei

Publication type:

Article

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 418, doi. 10.1093/hmg/ddt434

By:

Boccuto, Luigi;
Aoki, Kazuhiro;
Flanagan-Steet, Heather;
Chen, Chin-Fu;
Fan, Xiang;
Bartel, Frank;
Petukh, Marharyta;
Pittman, Ayla;
Saul, Robert;
Chaubey, Alka;
Alexov, Emil;
Tiemeyer, Michael;
Steet, Richard;
Schwartz, Charles E.

Publication type:

Article

Tumor-derived exosomes are enriched in ΔNp73, which promotes oncogenic potential in acceptor cells and correlates with patient survival.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 467, doi. 10.1093/hmg/ddt437

By:

Soldevilla, Beatriz;
Rodríguez, Marta;
San Millán, Coral;
García, Vanesa;
Fernández-Periañez, Rodrigo;
Gil-Calderón, Beatriz;
Martín, Paloma;
García-Grande, Aránzazu;
Silva, Javier;
Bonilla, Félix;
Domínguez, Gemma

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt649
Publication type:: Article

Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 383, doi. 10.1093/hmg/ddt428

By:

Van Ry, Pam M.;
Minogue, Priscilla;
Hodges, Bradley L.;
Burkin, Dean J.

Publication type:

Article

Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 303, doi. 10.1093/hmg/ddt421

By:

Lang, Min;
Wither, Robert G.;
Colic, Sinisa;
Wu, Chiping;
Monnier, Philippe P.;
Bardakjian, Berj L.;
Zhang, Liang;
Eubanks, James H.

Publication type:

Article

Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 293, doi. 10.1093/hmg/ddt419

By:

Kim, Yun Kyoung;
Mandal, Mahua;
Yadava, Ramesh S.;
Paillard, Luc;
Mahadevan, Mani S.

Publication type:

Article

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 491, doi. 10.1093/hmg/ddt439

By:

Audo, Isabelle;
Bujakowska, Kinga;
Orhan, Elise;
El Shamieh, Said;
Sennlaub, Florian;
Guillonneau, Xavier;
Antonio, Aline;
Michiels, Christelle;
Lancelot, Marie-Elise;
Letexier, Melanie;
Saraiva, Jean-Paul;
Nguyen, Hoan;
Luu, Tien D.;
Léveillard, Thierry;
Poch, Olivier;
Dollfus, Hélène;
Paques, Michel;
Goureau, Olivier;
Mohand-Saïd, Saddek;
Bhattacharya, Shomi S.

Publication type:

Article

LIS1 controls mitosis and mitotic spindle organization via the LIS1–NDEL1–dynein complex.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 449, doi. 10.1093/hmg/ddt436

By:

Moon, Hyang Mi;
Youn, Yong Ha;
Pemble, Hayley;
Yingling, Jessica;
Wittmann, Torsten;
Wynshaw-Boris, Anthony

Publication type:

Article

Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 555, doi. 10.1093/hmg/ddt432

By:

Bloom, A. Joseph;
Baker, Timothy B.;
Chen, Li-Shiun;
Breslau, Naomi;
Hatsukami, Dorothy;
Bierut, Laura J.;
Goate, Alison

Publication type:

Article

Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 524, doi. 10.1093/hmg/ddt424

By:

Zhang, Jing;
Zhang, Yan;
Yang, Jing;
Zhang, Lu;
Sun, Liangdan;
Pan, Hai-Feng;
Hirankarn, Nattiya;
Ying, Dingge;
Zeng, Shuai;
Lee, Tsz Leung;
Lau, Chak Sing;
Chan, Tak Mao;
Leung, Alexander Moon Ho;
Mok, Chi Chiu;
Wong, Sik Nin;
Lee, Ka Wing;
Ho, Marco Hok Kung;
Lee, Pamela Pui Wah;
Chung, Brian Hon-Yin;
Chong, Chun Yin

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt650
Publication type:: Article

HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 319, doi. 10.1093/hmg/ddt422

By:

Yu, Chi-Yi;
Theusch, Elizabeth;
Lo, Kathleen;
Mangravite, Lara M.;
Naidoo, Devesh;
Kutilova, Mariya;
Medina, Marisa W.

Publication type:

Article

Wt1 functions in ovarian follicle development by regulating granulosa cell differentiation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 333, doi. 10.1093/hmg/ddt423

By:

Gao, Fei;
Zhang, Jun;
Wang, Xiaona;
Yang, Junling;
Chen, Dahua;
Huff, Vicki;
Liu, Yi-xun

Publication type:

Article

Epigenetics meets metabolomics: an epigenome-wide association study with blood serum metabolic traits.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 534, doi. 10.1093/hmg/ddt430

By:

Petersen, Ann-Kristin;
Zeilinger, Sonja;
Kastenmüller, Gabi;
Römisch-Margl, Werner;
Brugger, Markus;
Peters, Annette;
Meisinger, Christine;
Strauch, Konstantin;
Hengstenberg, Christian;
Pagel, Philipp;
Huber, Fritz;
Mohney, Robert P.;
Grallert, Harald;
Illig, Thomas;
Adamski, Jerzy;
Waldenberger, Melanie;
Gieger, Christian;
Suhre, Karsten

Publication type:

Article

A novel estrogen receptor-microRNA 190a-PAR-1-pathway regulates breast cancer progression, a finding initially suggested by genome-wide analysis of loci associated with lymph-node metastasis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 355, doi. 10.1093/hmg/ddt426

By:

Chu, Hou-Wei;
Cheng, Chun-Wen;
Chou, Wen-Cheng;
Hu, Ling-Yueh;
Wang, Hsiao-Wei;
Hsiung, Chia-Ni;
Hsu, Huan-Ming;
Wu, Pei-Ei;
Hou, Ming-Feng;
Shen, Chen-Yang;
Yu, Jyh-Cherng

Publication type:

Article

BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 502, doi. 10.1093/hmg/ddt444

By:

Yang, Wulin;
Thein, Shermaine;
Wang, Xiaorui;
Bi, Xuezhi;
Ericksen, Russell E.;
Xu, Feng;
Han, Weiping

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 2, p. NP, doi. 10.1093/hmg/ddt651
Publication type:: Article

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429

By:

Lim, Young H.;
Ovejero, Diana;
Sugarman, Jeffrey S.;
DeKlotz, Cynthia M.C.;
Maruri, Ann;
Eichenfield, Lawrence F.;
Kelley, Patrick K.;
Jüppner, Harald;
Gottschalk, Michael;
Tifft, Cynthia J.;
Gafni, Rachel I.;
Boyce, Alison M.;
Cowen, Edward W.;
Bhattacharyya, Nisan;
Guthrie, Lori C.;
Gahl, William A.;
Golas, Gretchen;
Loring, Erin C.;
Overton, John D.;
Mane, Shrikant M.

Publication type:

Article

Extensive transcriptional complexity during hypoxia-regulated expression of the myoglobin gene in cancer.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 479, doi. 10.1093/hmg/ddt438

By:

Bicker, Anne;
Dietrich, Dimo;
Gleixner, Eva;
Kristiansen, Glen;
Gorr, Thomas A.;
Hankeln, Thomas

Publication type:

Article

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage–hair hypoplasia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 368, doi. 10.1093/hmg/ddt427

By:

Rogler, Leslie E.;
Kosmyna, Brian;
Moskowitz, David;
Bebawee, Remon;
Rahimzadeh, Joseph;
Kutchko, Katrina;
Laederach, Alain;
Notarangelo, Luigi D.;
Giliani, Silvia;
Bouhassira, Eric;
Frenette, Paul;
Roy-Chowdhury, Jayanta;
Rogler, Charles E.

Publication type:

Article

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 2, p. 562

By:

Holmans, Peter;
Moskvina, Valentina;
Jones, Lesley;
Sharma, Manu;
Vedernikov, Alexey;
Buchel, Finja;
Saad, Mohamad;
Bras, Jose M.;
Bettella, Francesco;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Mittag, Florian;
Gibbs, J. Raphael;
Schulte, Claudia;
Durr, Alexandra;
Guerreiro, Rita;
Hernandez, Dena;
Brice, Alexis;
Stefánsson, Hreinn;
Majamaa, Kari

Publication type:

Article