Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 12

Results: 15

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2364, doi. 10.1093/hmg/ddx123
By:
- Bjornsson, Eythor;
- Helgason, Hannes;
- Halldorsson, Gisli;
- Helgadottir, Anna;
- Gylfason, Arnaldur;
- Kehr, Birte;
- Jonasdottir, Adalbjorg;
- Jonasdottir, Aslaug;
- Sigurdsson, Asgeir;
- Oddsson, Asmundur;
- Thorleifsson, Gudmar;
- Magnusson, Olafur Th.;
- Gretarsdottir, Solveig;
- Zink, Florian;
- Kristjansson, Ragnar P.;
- Asgeirsdottir, Margret;
- Swinkels, Dorine W.;
- Kiemeney, Lambertus A.;
- Eyjolfsson, Gudmundur I.;
- Sigurdardottir, Olof
Publication type:
Article
Discovery of novel heart rate-associated loci using the Exome Chip.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2346, doi. 10.1093/hmg/ddx113
By:
- van den Berg, Marten E.;
- Warren, Helen R.;
- Cabrera, Claudia P.;
- Verweij, Niek;
- Mifsud, Borbala;
- Haessler, Jeffrey;
- Bihlmeyer, Nathan A.;
- Yi-Ping Fu;
- Weiss, Stefan;
- Lin, Henry J.;
- Grarup, Niels;
- Ruifang Li-Gao;
- Pistis, Giorgio;
- Shah, Nabi;
- Brody, Jennifer A.;
- Müller-Nurasyid, Martina;
- Honghuang Lin;
- Hao Mei;
- Smith, Albert V.;
- Lyytikäinen, Leo-Pekka
Publication type:
Article
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2335, doi. 10.1093/hmg/ddx137
By:
- Shanshan Yu;
- Chang Li;
- Biswas, Lincoln;
- Xuebin Hu;
- Fei Liu;
- Reilly, James;
- Xiliang Liu;
- Ying Liu;
- Yuwen Huang;
- Zhaojing Lu;
- Shanshan Han;
- Lei Wang;
- Jing Yu Liu;
- Tao Jiang;
- Xinhua Shu;
- Wong, Fulton;
- Zhaohui Tang;
- Mugen Liu
Publication type:
Article
Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2321, doi. 10.1093/hmg/ddx125
By:
- Lanfranco Leo;
- Weissmann, Carina;
- Burns, Matthew;
- Minsu Kang;
- Yuyu Song;
- Liang Qiang;
- Brady, Scott T.;
- Baas, Peter W.;
- Morfini, Gerardo
Publication type:
Article
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2307, doi. 10.1093/hmg/ddx122
By:
- Kharfallah, Fares;
- Guyot, Marie Claude;
- El Hassan, Abdul Rahman;
- Allache, Redouane;
- Merello, Elisa;
- De Marco, Patrizia;
- Di Cristo, Graziella;
- Capra, Valeria;
- Kibar, Zoha
Publication type:
Article
Two pathways of rod photoreceptor cell death induced by elevated cGMP.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2299, doi. 10.1093/hmg/ddx121
By:
- Tian Wang;
- Tsang, Stephen H.;
- Chen, Jeannie
Publication type:
Article
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2290, doi. 10.1093/hmg/ddx119
By:
- Mazziotti, Raffaele;
- Lupori, Leonardo;
- Sagona, Giulia;
- Gennaro, Mariangela;
- Sala, Grazia Della;
- Putignano, Elena;
- Pizzorusso, Tommaso
Publication type:
Article
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2277, doi. 10.1093/hmg/ddx118
By:
- Canterini, Sonia;
- Dragotto, Jessica;
- Dardis, Andrea;
- Zampieri, Stefania;
- De Stefano, Maria Egle;
- Mangia, Franco;
- Erickson, Robert P.;
- Fiorenza, Maria Teresa
Publication type:
Article
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2258, doi. 10.1093/hmg/ddx116
By:
- Can Zhou;
- Chen Li;
- Bin Zhou;
- Huaqin Sun;
- Koullourou, Victoria;
- Holt, Ian;
- Puckelwartz, Megan J.;
- Warren, Derek T.;
- Hayward, Robert;
- Ziyuan Lin;
- Lin Zhang;
- Morris, Glenn E.;
- McNally, Elizabeth M.;
- Sue Shackleton;
- Li Rao;
- Shanahan, Catherine M.;
- Qiuping Zhang
Publication type:
Article
Reduced cytoplasmic MBNL1 is an early event in a brain-specific mouse model of myotonic dystrophy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2247, doi. 10.1093/hmg/ddx115
By:
- Pei-Ying Wang;
- Yu-Mei Lin;
- Lee-Hsin Wang;
- Ting-Yu Kuo;
- Sin-Jhong Cheng;
- Guey-Shin Wang
Publication type:
Article
Sodium butyrate rescues dopaminergic cells from alpha-synuclein-induced transcriptional deregulation and DNA damage.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2231, doi. 10.1093/hmg/ddx114
By:
- Paiva, Isabel;
- Pinho, Raquel;
- Pavlou, Maria Angeliki;
- Hennion, Magali;
- Wales, Pauline;
- Schütz, Anna-Lena;
- Rajput, Ashish;
- Szegő, Éva M.;
- Kerimoglu, Cemil;
- Gerhardt, Ellen;
- Rego, Ana Cristina;
- Fischer, André;
- Bonn, Stefan;
- Outeiro, Tiago F.
Publication type:
Article
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2218, doi. 10.1093/hmg/ddx111
By:
- Veleri, Shobi;
- Nellissery, Jacob;
- Mishra, Bibhudatta;
- Manjunath, Souparnika H.;
- Brooks, Matthew J.;
- Lijin Dong;
- Kunio Nagashima;
- Haohua Qian;
- Chun Gao;
- Sergeev, Yuri V.;
- Xiu-Feng Huang;
- Jia Qu;
- Fan Lu;
- Cideciyan, Artur V.;
- Tiansen Li;
- Zi-Bing Jin;
- Fariss, Robert N.;
- Ratnapriya, Rinki;
- Jacobson, Samuel G.;
- Swaroop, Anand
Publication type:
Article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110
By:
- Yaqun Zou;
- Donkervoort, Sandra;
- Salo, Antti M.;
- Foley, A. Reghan;
- Barnes, Aileen M.;
- Ying Hu;
- Makareeva, Elena;
- Leach, Meganne E.;
- Mohassel, Payam;
- Dastgir, Jahannaz;
- Deardorff, Matthew A.;
- Cohn, Ronald D.;
- DiNonno, Wendy O.;
- Malfait, Fransiska;
- Lek, Monkol;
- Leikin, Sergey;
- Marini, Joan C.;
- Myllyharju, Johanna;
- Bönnemann, Carsten G.
Publication type:
Article
Misregulation of calcium-handling proteins promotes hyperactivation of calcineurin-NFAT signaling in skeletal muscle of DM1 mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2192, doi. 10.1093/hmg/ddx109
By:
- Ravel-Chapuis, Aymeric;
- Bélanger, Guy;
- Côté, Jocelyn;
- Michel, Robin N.;
- Jasmin, Bernard J.
Publication type:
Article
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 12, p. 2177, doi. 10.1093/hmg/ddx078
By:
- Miller, Emily E.;
- Kobayashi, Gerson S.;
- Musso, Camila M.;
- Allen, Miranda;
- Ishiy, Felipe A. A.;
- de Caires Jr, Luiz Carlos;
- Goulart, Ernesto;
- Griesi-Oliveira, Karina;
- Zechi-Ceide, Roseli M.;
- Richieri-Costa, Antonio;
- Bertola, Debora R.;
- Passos-Bueno, Maria Rita;
- Silver, Debra L.
Publication type:
Article