Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 9

Results: 22

A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2029, doi. 10.1093/hmg/dds019

By:

Sarbajna, Shriparna;
Denniff, Matthew;
Jeffreys, Alec J.;
Neumann, Rita;
Soler Artigas, María;
Veselis, Amelia;
May, Celia A.

Publication type:

Article

Amelioration of Duchenne muscular dystrophy in mdx mice by elimination of matrix-associated fibrin-driven inflammation coupled to the αMβ2 leukocyte integrin receptor.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 1989, doi. 10.1093/hmg/dds012

By:

Vidal, Berta;
Ardite, Esther;
Suelves, Mònica;
Ruiz-Bonilla, Vanessa;
Janué, Anna;
Flick, Matthew J.;
Degen, Jay L.;
Serrano, Antonio L.;
Muñoz-Cánoves, Pura

Publication type:

Article

Disrupted in Schizophrenia 1 forms pathological aggresomes that disrupt its function in intracellular transport.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2017, doi. 10.1093/hmg/dds018

By:

Atkin, Talia A.;
Brandon, Nicholas J.;
Kittler, Josef T.

Publication type:

Article

Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2068, doi. 10.1093/hmg/dds024

By:

Qurashi, Abrar;
Liu, Huijie;
Ray, Laurie;
Nelson, David L.;
Duan, Ranhui;
Jin, Peng

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 9, p. NP-b, doi. 10.1093/hmg/dds121
Publication type:: Article

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2124, doi. 10.1093/hmg/dds028

By:

An, Peng;
Wu, Qian;
Wang, Hao;
Guan, Yu;
Mu, Mingdao;
Liao, Yijun;
Zhou, Daizhan;
Song, Pengkun;
Wang, Chunrong;
Meng, Liping;
Man, Qingqing;
Li, Lixiang;
Zhang, Jian;
Wang, Fudi

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 9, p. NP-a, doi. 10.1093/hmg/dds120
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 9, p. NP, doi. 10.1093/hmg/dds119
Publication type:: Article

LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 1931, doi. 10.1093/hmg/dds003

By:

Wang, Xinglong;
Yan, Michael H.;
Fujioka, Hisashi;
Liu, Jun;
Wilson-Delfosse, Amy;
Chen, Shu G.;
Perry, George;
Casadesus, Gemma;
Zhu, Xiongwei

Publication type:

Article

Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 1954, doi. 10.1093/hmg/dds005

By:

Uribe, Valeria;
Wong, Bibiana K.Y.;
Graham, Rona K.;
Cusack, Corey L.;
Skotte, Niels H.;
Pouladi, Mahmoud A.;
Xie, Yuanyun;
Feinberg, Konstantin;
Ou, Yimiao;
Ouyang, Yingbin;
Deng, Yu;
Franciosi, Sonia;
Bissada, Nagat;
Spreeuw, Amanda;
Zhang, Weining;
Ehrnhoefer, Dagmar E.;
Vaid, Kuljeet;
Miller, Freda D.;
Deshmukh, Mohanish;
Howland, David

Publication type:

Article

Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2132, doi. 10.1093/hmg/dds029

By:

Abnet, Christian C.;
Wang, Zhaoming;
Song, Xin;
Hu, Nan;
Zhou, Fu-You;
Freedman, Neal D.;
Li, Xue-Min;
Yu, Kai;
Shu, Xiao-Ou;
Yuan, Jian-Min;
Zheng, Wei;
Dawsey, Sanford M.;
Liao, Linda M.;
Lee, Maxwell P.;
Ding, Ti;
Qiao, You-Lin;
Gao, Yu-Tang;
Koh, Woon-Puay;
Xiang, Yong-Bing;
Tang, Ze-Zhong

Publication type:

Article

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2039, doi. 10.1093/hmg/dds022

By:

Purevjav, Enkhsaikhan;
Arimura, Takuro;
Augustin, Sibylle;
Huby, Anne-Cecile;
Takagi, Ken;
Nunoda, Shinichi;
Kearney, Debra L.;
Taylor, Michael D.;
Terasaki, Fumio;
Bos, Johan M.;
Ommen, Steve R.;
Shibata, Hiroki;
Takahashi, Megumi;
Itoh-Satoh, Manatsu;
McKenna, William J.;
Murphy, Ross T.;
Labeit, Siegfried;
Yamanaka, Yoichi;
Machida, Noboru;
Park, Jeong-Euy

Publication type:

Article

The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2111, doi. 10.1093/hmg/dds021

By:

Cusanovich, Darren A.;
Billstrand, Christine;
Zhou, Xiang;
Chavarria, Claudia;
De Leon, Sherryl;
Michelini, Katelyn;
Pai, Athma A.;
Ober, Carole;
Gilad, Yoav

Publication type:

Article

Genetic and epigenetic mechanisms collaborate to control SERPINA3 expression and its association with placental diseases.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 1968, doi. 10.1093/hmg/dds006

By:

Chelbi, Sonia T.;
Wilson, Melissa L.;
Veillard, Anne-Clémence;
Ingles, Sue A.;
Zhang, Jim;
Mondon, Françoise;
Gascoin-Lachambre, Géraldine;
Doridot, Ludivine;
Mignot, Thérèse-Marie;
Rebourcet, Régis;
Carbonne, Bruno;
Concordet, Jean-Paul;
Barbaux, Sandrine;
Vaiman, Daniel

Publication type:

Article

The DNA translocase activity of FANCM protects stalled replication forks.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2005, doi. 10.1093/hmg/dds013

By:

Blackford, Andrew N.;
Schwab, Rebekka A.;
Nieminuszczy, Jadwiga;
Deans, Andrew J.;
West, Stephen C.;
Niedzwiedz, Wojciech

Publication type:

Article

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 1979, doi. 10.1093/hmg/dds011

By:

Mórotz, Gábor M.;
De Vos, Kurt J.;
Vagnoni, Alessio;
Ackerley, Steven;
Shaw, Christopher E.;
Miller, Christopher C.J.

Publication type:

Article

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 1945, doi. 10.1093/hmg/dds004

By:

Zhang, Qihong;
Seo, Seongjin;
Bugge, Kevin;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Transcriptional analysis of pluripotency reveals the Hippo pathway as a barrier to reprogramming.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2054, doi. 10.1093/hmg/dds023

By:

Qin, Han;
Blaschke, Kathryn;
Wei, Grace;
Ohi, Yuki;
Blouin, Laure;
Qi, Zhongxia;
Yu, Jingwei;
Yeh, Ru-Fang;
Hebrok, Matthias;
Ramalho-Santos, Miguel

Publication type:

Article

IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2076, doi. 10.1093/hmg/dds025

By:

Ha Nguyen, Hai;
Takata, Ryo;
Akamatsu, Shusuke;
Shigemizu, Daichi;
Tsunoda, Tatsuhiko;
Furihata, Mutsuo;
Takahashi, Atsushi;
Kubo, Michiaki;
Kamatani, Naoyuki;
Ogawa, Osamu;
Fujioka, Tomoaki;
Nakamura, Yusuke;
Nakagawa, Hidewaki

Publication type:

Article

Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2102, doi. 10.1093/hmg/dds020

By:

Low, Siew-Kee;
Takahashi, Atsushi;
Cha, Pei-Chieng;
Zembutsu, Hitoshi;
Kamatani, Naoyuki;
Kubo, Michiaki;
Nakamura, Yusuke

Publication type:

Article

The effects of EBV transformation on gene expression levels and methylation profiles.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2142, doi. 10.1093/hmg/dds027

By:

Çalışkan, Minal;
Cusanovich, Darren A.;
Ober, Carole;
Gilad, Yoav

Publication type:

Article

Periconceptional maternal micronutrient supplementation is associated with widespread gender related changes in the epigenome: a study of a unique resource in the Gambia.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 9, p. 2086, doi. 10.1093/hmg/dds026

By:

Khulan, Batbayar;
Cooper, Wendy N.;
Skinner, Benjamin M.;
Bauer, Julien;
Owens, Stephen;
Prentice, Andrew M.;
Belteki, Gusztav;
Constancia, Miguel;
Dunger, David;
Affara, Nabeel A.

Publication type:

Article