Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 3

Results: 15

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 529, doi. 10.1093/hmg/ddx422

By:

Hartill, Verity L.;
van de Hoek, Glenn;
Patel, Mitali P.;
Little, Rosi;
Watson, Christopher M.;
Berry, Ian R.;
Shoemark, Ameli;
Abdelmottaleb, Din;
Parkes, Emm;
Bacchelli, Chiar;
Szymanska, Katarzyn;
Knoers, Nine V.;
Scambler, Peter J.;
Ueffing, Marius;
Boldt, Karste;
Yates, Rober;
Winyard, Paul J.;
Adler, Bery;
Moya, Eduard;
Hattingh, Louis

Publication type:

Article

Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 505, doi. 10.1093/hmg/ddx420

By:

Langouët, Maéva;
Glatt-Deeley, Heather R.;
Chung, Michael S.;
Dupont-Thibert, Clémence M.;
Mathieux, Elodie;
Banda, Erin C.;
Stoddard, Christopher E.;
Crandall, Leann;
Lalande, Marc

Publication type:

Article

Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 486, doi. 10.1093/hmg/ddx418

By:

Lei Sheng;
Bo Wan;
Pengchao Feng;
Junjie Sun;
Rigo, Frank;
Bennett, C. Frank;
Akerman, Martin;
Krainer, Adrian R.;
Yimin Hua

Publication type:

Article

Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 430, doi. 10.1093/hmg/ddx411

By:

Winge, Sofia B.;
Dalgaard, Marlene D.;
Jensen, Jacob M.;
Graem, Niels;
Schierup, Mikkel H.;
Juul, Anders;
Rajpert-De Meyts, Ewa;
Almstrup, Kristian

Publication type:

Article

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 3, p. 576, doi. 10.1093/hmg/ddx425
Publication type:: Article

Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 559, doi. 10.1093/hmg/ddx416

By:

Fan Liu;
Yan Chen;
Gu Zhu;
Hysi, Pirro G.;
Sijie Wu;
Adhikari, Kaustubh;
Breslin, Krystal;
Pośpiech, Ewelina;
Hamer, Merel A.;
Fuduan Peng;
Muralidharan, Charanya;
Acuna-Alonzo, Victor;
Canizales-Quinteros, Samuel;
Bedoya, Gabriel;
Gallo, Carla;
Poletti, Giovanni;
Rothhammer, Francisco;
Bortolini, Maria Catira;
Gonzalez-Jose, Rolando;
Changqing Zeng

Publication type:

Article

Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 546, doi. 10.1093/hmg/ddx413

By:

Tönjes, Anke;
Scholz, Markus;
Krüger, Jacqueline;
Krause, Kerstin;
Schleinitz, Dorit;
Kirsten, Holger;
Gebhardt, Claudia;
Marzi, Carola;
Grallert, Harald;
Ladenvall, Claes;
Heyne, Henrike;
Laurila, Esa;
Kriebel, Jennifer;
Meisinger, Christa;
Rathmann, Wolfgang;
Gieger, Christian;
Groop, Leif;
Prokopenko, Inga;
Isomaa, Bo;
Beutner, Frank

Publication type:

Article

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 516, doi. 10.1093/hmg/ddx421

By:

Mariko Takahara;
Yohei Katoh;
Kentaro Nakamura;
Tomoaki Hirano;
Maho Sugawa;
Yuta Tsurumi;
Kazuhisa Nakayama

Publication type:

Article

De novo mutations implicate novel genes in systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 421, doi. 10.1093/hmg/ddx407

By:

Pullabhatla, Venu;
Roberts, Amy L.;
Lewis, Myles J.;
Mauro, Daniele;
Morris, David L.;
Odhams, Christopher A.;
Tombleson, Philip;
Liljedahl, Ulrika;
Vyse, Simon;
Simpson, Michael A.;
Sauer, Sascha;
de Rinaldis, Emanuele;
Syvänen, Ann-Christine;
Vyse, Timothy J.

Publication type:

Article

TorsinA dysfunction causes persistent neuronal nuclear pore defects.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 407, doi. 10.1093/hmg/ddx405

By:

Pappas, Samuel S.;
Chun-Chi Liang;
Sumin Kim;
Rivera, CheyAnne O.;
Dauer, William T.

Publication type:

Article

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 499, doi. 10.1093/hmg/ddx419

By:

Punzi, Giuseppe;
Porcelli, Vito;
Ruggiu, Matteo;
Hossain, Md F.;
Menga, Alessio;
Scarcia, Pasquale;
Castegna, Alessandra;
Gorgoglione, Ruggiero;
Pierri, Ciro L.;
Laera, Luna;
Lasorsa, Francesco M.;
Paradies, Eleonora;
Pisano, Isabella;
Marobbio, Carlo M. T.;
Lamantea, Eleonora;
Ghezzi, Daniele;
Tiranti, Valeria;
Giannattasio, Sergio;
Donati, Maria A.;
Guerrini, Renzo

Publication type:

Article

Interplay between FMRP and lncRNA TUG1 regulates axonal development through mediating SnoN-Ccd1 pathway.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 475, doi. 10.1093/hmg/ddx417

By:

Ye Guo;
Xu Chen;
Ruxiao Xing;
Min Wang;
Xiaojuan Zhu;
Weixiang Guo

Publication type:

Article

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUS<sup>WT</sup> transgenic mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 463, doi. 10.1093/hmg/ddx415

By:

So, Eva;
Mitchell, Jacqueline C.;
Memmi, Caroline;
Chennell, George;
Vizcay-Barrena, Gema;
Allison, Leanne;
Shaw, Christopher E.;
Vance, Caroline

Publication type:

Article

Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 451, doi. 10.1093/hmg/ddx414

By:

McCourt, Jackie L.;
Talsness, Dana M.;
Lindsay, Angus;
Arpke, Robert W.;
Chatterton, Paul D.;
Nelson, D'anna M.;
Chamberlain, Christopher M.;
Olthoff, John T.;
Belanto, Joseph J.;
McCourt, Preston M.;
Kyba, Michael;
Lowe, Dawn A.;
Ervasti, James M.

Publication type:

Article

Loss of offspring Peg3 reduces neonatal ultrasonic vocalizations and increases maternal anxiety in wild-type mothers.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 3, p. 440, doi. 10.1093/hmg/ddx412

By:

McNamara, G. I.;
Creeth, H. D. J.;
Harrison, D. J.;
Tansey, K. E.;
Andrews, R. M.;
Isles, A. R.;
John, R. M.

Publication type:

Article