Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 13

Results: 20

A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2577, doi. 10.1093/hmg/ddx151

By:

Munz, Matthias;
Willenborg, Christina;
Richter, Gesa M.;
Jockel-Schneider, Yvonne;
Graetz, Christian;
Staufenbiel, Ingmar;
Wellmann, Jürgen;
Berger, Klaus;
Krone, Bastian;
Hoffmann, Per;
van der Velde, Nathalie;
Uitterlinden, André G.;
de Groot, Lisette C. P. G. M.;
Sawalha, Amr H.;
Direskeneli, Haner;
Saruhan-Direskeneli, Güher;
Guzeldemir-Akcakanat, Esra;
Keceli, Gencay;
Laudes, Matthias;
Noack, Barbara

Publication type:

Article

A new MHC-linked susceptibility locus for primary Sjögren's syndrome: MICA.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2565, doi. 10.1093/hmg/ddx135

By:

Carapito, Raphael;
Gottenberg, Jacques-Eric;
Kotova, Irina;
Untrau, Meiggie;
Michel, Sandra;
Naegely, Lydie;
Aouadi, Ismail;
Kwemou, Marius;
Paul, Nicodème;
Pichot, Angélique;
Locke, James;
Bowman, Simon J.;
Griffiths, Bridget;
Sivils, Kathy L.;
Sibilia, Jean;
Inoko, Hidetoshi;
Micelli-Richard, Corinne;
Nocturne, Gaétane;
Ota, Masao;
Wan-Fai Ng

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 13, p. 2590, doi. 10.1093/hmg/ddx220
Publication type:: Article

ERRATUM.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 13, p. 2589, doi. 10.1093/hmg/ddx156
Publication type:: Article

GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2551, doi. 10.1093/hmg/ddx071

By:

Nongmaithem, Suraj S.;
Joglekar, Charudatta V.;
Krishnaveni, Ghattu V.;
Sahariah, Sirazul A.;
Ahmad, Meraj;
Ramachandran, Swetha;
Gandhi, Meera;
Chopra, Harsha;
Pandit, Anand;
Potdar, Ramesh D.;
Fall, Caroline H.D.;
Yajnik, Chittaranjan S.;
Chandak, Giriraj R.

Publication type:

Article

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2541, doi. 10.1093/hmg/ddx152

By:

Chatzispyrou, Iliana A.;
Alders, Marielle;
Guerrero-Castillo, Sergio;
Perez, Ruben Zapata;
Haagmans, Martin A.;
Mouchiroud, Laurent;
Koster, Janet;
Ofman, Rob;
Baas, Frank;
Waterham, Hans R.;
Spelbrink, Johannes N.;
Auwerx, Johan;
Mannens, Marcel M.;
Houtkooper, Riekelt H.;
Plomp, Astrid S.

Publication type:

Article

Androgen receptor agonists increase lean mass, improve cardiopulmonary functions and extend survival in preclinical models of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2526, doi. 10.1093/hmg/ddx150

By:

Ponnusamy, Suriyan;
Sullivan, Ryan D.;
Dahui You;
Zafar, Nadeem;
Chuan He Yang;
Thiyagarajan, Thirumagal;
Johnson, Daniel L.;
Barrett, Maron L.;
Koehler, Nikki J.;
Star, Mayra;
Stephenson, Erin J.;
Bridges, Dave;
Cormier, Stephania A.;
Pfeffer, Lawrence M.;
Narayanan, Ramesh

Publication type:

Article

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2515, doi. 10.1093/hmg/ddx146

By:

Siibak, Triinu;
Clemente, Paula;
Bratic, Ana;
Bruhn, Helene;
Kauppila, Timo E. S.;
Macao, Bertil;
Schober, Florian A.;
Lesko, Nicole;
Wibom, Rolf;
Naess, Karin;
Nennesmo, Inger;
Wedell, Anna;
Peter, Bradley;
Freyer, Christoph;
Falkenberg, Maria;
Wredenberg, Anna

Publication type:

Article

A frequent oligogenic involvement in congenital hypothyroidism.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2507, doi. 10.1093/hmg/ddx145

By:

de Filippis, Tiziana;
Gelmini, Giulia;
Paraboschi, Elvezia;
Vigone, Maria Cristina;
Di Frenna, Marianna;
Marelli, Federica;
Bonomi, Marco;
Cassio, Alessandra;
Larizza, Daniela;
Moro, Mirella;
Radetti, Giorgio;
Salerno, Mariacarolina;
Ardissino, Diego;
Weber, Giovanna;
Gentilini, Davide;
Guizzardi, Fabiana;
Duga, Stefano;
Persani, Luca

Publication type:

Article

Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2493, doi. 10.1093/hmg/ddx144

By:

García-Bartolomé, Alberto;
Peñas, Ana;
Marín-Buera, Lorena;
Lobo-Jarne, Teresa;
Pérez-Pérez, Rafael;
Morán, María;
Arenas, Joaquín;
Martín, Miguel A.;
Ugalde, Cristina

Publication type:

Article

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2480, doi. 10.1093/hmg/ddx143

By:

Schwarz, Nele;
Lane, Amelia;
Jovanovic, Katarina;
Parfitt, David A.;
Aguila, Monica;
Thompson, Clare L.;
da Cruz, Lyndon;
Coffey, Peter J.;
Chapple, J. Paul;
Hardcastle, Alison J.;
Cheetham, Michael E.

Publication type:

Article

Evidence of nuclei-encoded spliceosome mediating splicing of mitochondrial RNA.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2472, doi. 10.1093/hmg/ddx142

By:

Herai, Roberto H.;
Negraes, Priscilla D.;
Muotri, Alysson R.

Publication type:

Article

BDNF overexpression prevents cognitive deficit elicited by adolescent cannabis exposure and host susceptibility interaction.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2462, doi. 10.1093/hmg/ddx139

By:

Segal-Gavish, Hadar;
Gazit, Neta;
Barhum, Yael;
Ben-Zur, Tali;
Taler, Michal;
Hornfeld, Shay Henry;
Gil-Ad, Irit;
Weizman, Abraham;
Slutsky, Inna;
Niwa, Minae;
Kamiya, Atsushi;
Sawa, Akira;
Offen, Daniel;
Barzilay, Ran

Publication type:

Article

Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2436, doi. 10.1093/hmg/ddx134

By:

Sirisi, Sònia;
Elorza-Vidal, Xabier;
Arnedo, Tanit;
Armand-Ugón, Mercedes;
Callejo, Gerard;
Capdevila-Nortes, Xavier;
López-Hernández, Tania;
Schulte, Uwe;
Barrallo-Gimeno, Alejandro;
Nunes, Virginia;
Gasull, Xavier;
Estévez, Raúl

Publication type:

Article

Clinical significance of miRNA host gene promoter methylation in prostate cancer.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2451, doi. 10.1093/hmg/ddx138

By:

Daniunaite, Kristina;
Dubikaityte, Monika;
Gibas, Povilas;
Bakavicius, Arnas;
Lazutka, Juozas Rimantas;
Ulys, Albertas;
Jankevicius, Feliksas;
Jarmalaite, Sonata

Publication type:

Article

Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2426, doi. 10.1093/hmg/ddx133

By:

Helassa, Nordine;
Antonyuk, Svetlana V.;
Lu-Yun Lian;
Haynes, Lee P.;
Burgoyne, Robert D.

Publication type:

Article

SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2412, doi. 10.1093/hmg/ddx132

By:

Zanon, Alessandra;
Kalvakuri, Sreehari;
Rakovic, Aleksandar;
Foco, Luisa;
Guida, Marianna;
Schwienbacher, Christine;
Serafin, Alice;
Rudolph, Franziska;
Trilck, Michaela;
Grünewald, Anne;
Stanslowsky, Nancy;
Wegner, Florian;
Giorgio, Valentina;
Lavdas, Alexandros A.;
Bodmer, Rolf;
Pramstaller, Peter P.;
Klein, Christine;
Hicks, Andrew A.;
Pichler, Irene;
Seibler, Philip

Publication type:

Article

Fat mass and obesity-associated (FTO) protein regulates adult neurogenesis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2398, doi. 10.1093/hmg/ddx128

By:

Liping Li;
Liqun Zang;
Feiran Zhang;
Junchen Chen;
Hui Shen;
Liqi Shu;
Feng Liang;
Chunyue Feng;
Deng Chen;
Huikang Tao;
Tianlei Xu;
Ziyi Li;
Yunhee Kang;
Hao Wu;
Lichun Tang;
Pumin Zhang;
Peng Jin;
Qiang Shu;
Xuekun Li

Publication type:

Article

Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2386, doi. 10.1093/hmg/ddx127

By:

Chuanqing Wu;
Jia Li;
Peterson, Andrew;
Kaixiong Tao;
Wang, Baolin

Publication type:

Article

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2377, doi. 10.1093/hmg/ddx124

By:

Jeong-Ki Kim;
Caine, Charlotte;
Awano, Tomoyuki;
Herbst, Ruth;
Monani, Umrao R.

Publication type:

Article