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

Results: 20

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
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
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
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
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
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