Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 5

Results: 17

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 1031, doi. 10.1093/hmg/ddv626
By:
- Wilson, Ian J.;
- Carling, Phillipa J.;
- Alston, Charlotte L.;
- Floros, Vasileios I.;
- Pyle, Angela;
- Hudson, Gavin;
- Sallevelt, Suzanne C. E. H.;
- Lamperti, Costanza;
- Carelli, Valerio;
- Bindoff, Laurence A.;
- Samuels, David C.;
- Wonnapinij, Passorn;
- Zeviani, Massimo;
- Taylor, Robert W.;
- Smeets, Hubert J. M.;
- Horvath, Rita;
- Chinnery, Patrick F.
Publication type:
Article
Genomic determinants of somatic copy number alterations across human cancers.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 1019, doi. 10.1093/hmg/ddv623
By:
- Yanping Zhang;
- Hongen Xu;
- Frishman, Dmitrij
Publication type:
Article
Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 1008, doi. 10.1093/hmg/ddv622
By:
- Stacey, Simon N.;
- Kehr, Birte;
- Gudmundsson, Julius;
- FlorianZink;
- Jonasdottir, Aslaug;
- Gudjonsson, Sigurjon A.;
- Sigurdsson, Asgeir;
- Halldorsson, Bjarni V.;
- Agnarsson, Bjarni A.;
- Benediktsdottir, Kristrun R.;
- Aben, Katja K. H.;
- Vermeulen, Sita H.;
- Cremers, Ruben G.;
- Panadero, Angeles;
- Helfand, Brian T.;
- Cooper, Phillip R.;
- Donovan, Jenny L.;
- Hamdy, Freddie C.;
- Jinga, Viorel;
- Ichiro Okamoto
Publication type:
Article
Exome arrays capture polygenic rare variant contributions to schizophrenia.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 1001, doi. 10.1093/hmg/ddv620
By:
- Richards, A. L.;
- Leonenko, G.;
- Walters, J. T.;
- Kavanagh, D. H.;
- Rees, E. G.;
- Evans, A.;
- Chambert, K. D.;
- Moran, J. L.;
- Goldstein, J.;
- Neale, B. M.;
- McCarroll, S. A.;
- Pocklington, A. J.;
- Holmans, P. A.;
- Owen, M. J.;
- O'Donovan, M. C.
Publication type:
Article
Assessing similarity to primary tissue and cortical layer identity in induced pluripotent stem cell-derived cortical neurons through single-cell transcriptomics.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 989, doi. 10.1093/hmg/ddv637
By:
- Handel, Adam E.;
- Chintawar, Satyan;
- Lalic, Tatjana;
- Whiteley, Emma;
- Vowles, Jane;
- Giustacchini, Alice;
- Argoud, Karene;
- Sopp, Paul;
- Nakanishi, Mahito;
- Bowden, Rory;
- Cowley, Sally;
- Newey, Sarah;
- Akerman, Colin;
- Ponting, Chris P.;
- Cader, M. Zameel
Publication type:
Article
Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 976, doi. 10.1093/hmg/ddv630
By:
- Peters, Sarah L.;
- Déry, Marc-André;
- LeBlanc, Andrea C.
Publication type:
Article
Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 964, doi. 10.1093/hmg/ddv629
By:
- Zhihua Feng;
- Ling, Karen K. Y.;
- Xin Zhao;
- Chunyi Zhou;
- Karp, Gary;
- Welch, Ellen M.;
- Naryshkin, Nikolai;
- Ratni, Hasane;
- Chen, Karen S.;
- Metzger, Friedrich;
- Paushkin, Sergey;
- Weetall, Marla;
- Chien-Ping Ko
Publication type:
Article
LRRK2 BAC transgenic rats develop progressive, L-DOPA-responsive motor impairment, and deficits in dopamine circuit function.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 951, doi. 10.1093/hmg/ddv628
By:
- Sloan, Max;
- Alegre-Abarrategui, Javier;
- Potgieter, Dawid;
- Kaufmann, Anna-Kristin;
- Exley, Richard;
- Deltheil, Thierry;
- Threlfell, Sarah;
- Connor-Robson, Natalie;
- Brimblecombe, Katherine;
- Wallings, Rebecca;
- Cioroch, Milena;
- Bannerman, David M.;
- Bolam, J. Paul;
- Magill, Peter J.;
- Cragg, Stephanie J.;
- Dodson, Paul D.;
- Wade-Martins, Richard
Publication type:
Article
Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 936, doi. 10.1093/hmg/ddv627
By:
- Songqing Li;
- Peipei Zhang;
- Freibaum, Brian D.;
- Nam Chul Kim;
- Kolaitis, Regina-Maria;
- Molliex, Amandine;
- Kanagaraj, Anderson P.;
- Yabe, Ichiro;
- Tanino, Mishie;
- Tanaka, Shinya;
- Sasaki, Hidenao;
- Ross, Eric D.;
- Taylor, J. Paul;
- Hong Joo Kim
Publication type:
Article
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 927, doi. 10.1093/hmg/ddv625
By:
- Laskowski, Roman A.;
- Tyagi, Nidhi;
- Johnson, Diana;
- Joss, Shelagh;
- Kinning, Esther;
- McWilliam, Catherine;
- Splitt, Miranda;
- Thornton, Janet M.;
- Firth, Helen V.;
- Study, DDD;
- Wright, Caroline F.
Publication type:
Article
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 916, doi. 10.1093/hmg/ddv624
By:
- Meunier, Isabelle;
- Lenaers, Guy;
- Bocquet, Béatrice;
- Baudoin, Corinne;
- Piro-Megy, Camille;
- Cubizolle, Aurélie;
- Quilès, Mélanie;
- Jean-Charles, Albert;
- Cohen, Salomon Yves;
- Merle, Harold;
- Gaudric, Alain;
- Labesse, Gilles;
- Manes, Gaël;
- Péquignot, Marie;
- Cazevieille, Chantal;
- Dhaenens, Claire-Marie;
- Fichard, Agnès;
- Ronkina, Natalia;
- Arthur, Simon J.;
- Gaestel, Matthias
Publication type:
Article
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 903, doi. 10.1093/hmg/ddv619
By:
- Perli, Elena;
- Fiorillo, Annarita;
- Giordano, Carla;
- Pisano, Annalinda;
- Montanari, Arianna;
- Grazioli, Paola;
- Campese, Antonio F.;
- Di Micco, Patrizio;
- Tuppen, Helen A.;
- Genovese, Ilaria;
- Poser, Elena;
- Preziuso, Carmela;
- Taylor, Robert W.;
- Morea, Veronica;
- Colotti, Gianni;
- d'Amati, Giulia
Publication type:
Article
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
By:
- Wei Ba;
- Yan Yan;
- Reijnders, Margot R. F.;
- Schuurs-Hoeijmakers, Janneke H. M.;
- Feenstra, Ilse;
- Bongers, Ernie M. H. F.;
- Bosch, Daniëlle G. M.;
- De Leeuw, Nicole;
- Pfundt, Rolph;
- Gilissen, Christian;
- De Vries, Petra F.;
- Veltman, Joris A.;
- Hoischen, Alexander;
- Mefford, Heather C.;
- Eichler, Evan E.;
- Vissers, Lisenka E. L. M.;
- Kasri, Nael Nadif;
- De Vries, Bert B. A.
Publication type:
Article
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 878, doi. 10.1093/hmg/ddv617
By:
- Escoffier, Jessica;
- Hoi Chang Lee;
- Yassine, Sandra;
- Zouari, Raoudha;
- Martinez, Guillaume;
- Karaouzène, Thomas;
- Coutton, Charles;
- Kherraf, Zine-eddine;
- Halouani, Lazhar;
- Triki, Chema;
- Nef, Serge;
- Thierry-Mieg, Nicolas;
- Savinov, Sergey N.;
- Fissore, Rafael;
- Ray, Pierre F.;
- Arnoult, Christophe
Publication type:
Article
Analysis of the ACTN3 heterozygous genotype suggests that a-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 866, doi. 10.1093/hmg/ddv613
By:
- Hogarth, Marshall W.;
- Garton, Fleur C.;
- Houweling, Peter J.;
- Tukiainen, Taru;
- Lek, Monkol;
- Macarthur, Daniel G.;
- Seto, Jane T.;
- Quinlan, Kate G. R.;
- Nan Yang;
- Head, Stewart I.;
- North, Kathryn N.
Publication type:
Article
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 853, doi. 10.1093/hmg/ddv611
By:
- Bode, Heiko;
- Bourquin, Florence;
- Suriyanarayanan, Saranya;
- Yu Wei;
- Alecu, Irina;
- Othman, Alaa;
- Von Eckardstein, Arnold;
- Hornemann, Thorsten
Publication type:
Article
Early-onset sleep defects in Drosophila models of Huntington's disease reflect alterations of PKA/CREB signaling.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 837, doi. 10.1093/hmg/ddv482
By:
- Gonzales, Erin D.;
- Tanenhaus, Anne K.;
- Jiabin Zhang;
- Chaffee, Ryan P.;
- Yin, Jerry C. P.
Publication type:
Article