Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 9

Results: 16

Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein, TorsinA/TOR1A.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1101, doi. 10.1002/humu.22602
By:
- Hettich, Jasmin;
- Ryan, Scott D.;
- Souza, Osmar Norberto;
- Saraiva Macedo Timmers, Luís Fernando;
- Tsai, Shelun;
- Atai, Nadia A.;
- Hora, Cintia C.;
- Zhang, Xuan;
- Kothary, Rashmi;
- Snapp, Erik;
- Ericsson, Maria;
- Grundmann, Kathrin;
- Breakefield, Xandra O.;
- Nery, Flávia C.
Publication type:
Article
GALT Protein Database: Querying Structural and Functional Features of GALT Enzyme.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1060, doi. 10.1002/humu.22613
By:
- d’Acierno, Antonio;
- Facchiano, Angelo;
- Marabotti, Anna
Publication type:
Article
Contents.
Published in:
2014
Publication type:
Other
Corneal Dystrophy-Causing SLC4 A11 Mutants: Suitability for Folding-Correction Therapy.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1082, doi. 10.1002/humu.22601
By:
- Loganathan, Sampath K.;
- Casey, Joseph R.
Publication type:
Article
Mutations in Exon 1 Highlight the Role of MED12 in Uterine Leiomyomas.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1136, doi. 10.1002/humu.22612
By:
- Kämpjärvi, Kati;
- Park, Min Ju;
- Mehine, Miika;
- Kim, Nam Hee;
- Clark, Alison D.;
- Bützow, Ralf;
- Böhling, Tom;
- Böhm, Jan;
- Mecklin, Jukka‐Pekka;
- Järvinen, Heikki;
- Tomlinson, Ian P.M.;
- Spuy, Zephne M.;
- Sjöberg, Jari;
- Boyer, Thomas G.;
- Vahteristo, Pia
Publication type:
Article
Assessing How Reduced Expression Levels of the Mismatch Repair Genes MLH1, MSH2, and MSH6 Affect Repair Efficiency.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1123, doi. 10.1002/humu.22605
By:
- Kansikas, Minttu;
- Kasela, Mariann;
- Kantelinen, Jukka;
- Nyström, Minna
Publication type:
Article
RNA Sequencing of Creatine Transporter ( SLC6 A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1128, doi. 10.1002/humu.22609
By:
- Nota, Benjamin;
- Ndika, Joseph D. T.;
- Kamp, Jiddeke M.;
- Kanhai, Warsha A.;
- Dooren, Silvy J. M.;
- Wiel, Mark A.;
- Pals, Gerard;
- Salomons, Gajja S.
Publication type:
Article
A Rising Titan: TTN Review and Mutation Update.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1046, doi. 10.1002/humu.22611
By:
- Chauveau, Claire;
- Rowell, John;
- Ferreiro, Ana
Publication type:
Article
Spectrum of the Mutations in Bernard- Soulier Syndrome.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1033, doi. 10.1002/humu.22607
By:
- Savoia, Anna;
- Kunishima, Shinji;
- De Rocco, Daniela;
- Zieger, Barbara;
- Rand, Margaret L.;
- Pujol‐Moix, Nuria;
- Caliskan, Umran;
- Tokgoz, Huseyin;
- Pecci, Alessandro;
- Noris, Patrizia;
- Srivastava, Alok;
- Ward, Christopher;
- Morel‐Kopp, Marie‐Christine;
- Alessi, Marie‐Christine;
- Bellucci, Sylvia;
- Beurrier, Philippe;
- Maistre, Emmanuel;
- Favier, Rémi;
- Hézard, Nathalie;
- Hurtaud‐Roux, Marie‐Françoise
Publication type:
Article
Unraveling Cellular Phenotypes of Novel TorsinA/TOR1 A Mutations.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1114, doi. 10.1002/humu.22604
By:
- Vulinovic, Franca;
- Lohmann, Katja;
- Rakovic, Aleksandar;
- Capetian, Philipp;
- Alvarez‐Fischer, Daniel;
- Schmidt, Alexander;
- Weißbach, Anne;
- Erogullari, Alev;
- Kaiser, Frank J.;
- Wiegers, Karin;
- Ferbert, Andreas;
- Rolfs, Arndt;
- Klein, Christine;
- Seibler, Philip
Publication type:
Article
Addressing Variant Pathogenicity: The TorsinA ( TOR1A) Gene as a Model.
Published in:
2014
By:
- Harata, N. Charles
Publication type:
Other
HSF4 Mutation p. Arg116 His Found in Age-Related Cataracts and in Normal Populations Produces Childhood Lamellar Cataract in Transgenic Mice.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1068, doi. 10.1002/humu.22610
By:
- Jing, Zhe;
- Gangalum, Rajendra K.;
- Bhat, Ankur M.;
- Nagaoka, Yoshiko;
- Jiang, Meisheng;
- Bhat, Suraj P.
Publication type:
Article
Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall- Smith Syndrome.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1092, doi. 10.1002/humu.22603
By:
- Schanze, Denny;
- Neubauer, Dorothée;
- Cormier‐Daire, Valerie;
- Delrue, Marie‐Ange;
- Dieux‐Coeslier, Anne;
- Hasegawa, Tomonobu;
- Holmberg, Eva E.;
- Koenig, Rainer;
- Krueger, Gabriele;
- Schanze, Ina;
- Seemanova, Eva;
- Shaw, Adam C.;
- Vogt, Julie;
- Volleth, Marianne;
- Reis, André;
- Meinecke, Peter;
- Hennekam, Raoul C.M.;
- Zenker, Martin
Publication type:
Article
Destruction of DDIT3/ CHOP Protein by Wild-Type SPOP but Not Prostate Cancer-Associated Mutants.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1142, doi. 10.1002/humu.22614
By:
- Zhang, Pingzhao;
- Gao, Kun;
- Tang, Yan;
- Jin, Xiaofeng;
- An, Jian;
- Yu, Hongxiu;
- Wang, Huan;
- Zhang, Yuanyuan;
- Wang, Dejie;
- Huang, Haojie;
- Yu, Long;
- Wang, Chenji
Publication type:
Article
Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. E2403, doi. 10.1002/humu.22619
By:
- Rowczenio, Dorota M.;
- Noor, Islam;
- Gillmore, Julian D.;
- Lachmann, Helen J.;
- Whelan, Carol;
- Hawkins, Philip N.;
- Obici, Laura;
- Westermark, Per;
- Grateau, Gilles;
- Wechalekar, Ashutosh D.
Publication type:
Article
Ancient and Recent Adaptive Evolution in the Antiviral TRIM22 Gene: Identification of a Single-Nucleotide Polymorphism That Impacts TRIM22 Function.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1072, doi. 10.1002/humu.22595
By:
- Kelly, Jenna N.;
- Woods, Matthew W.;
- Xhiku, Sintia;
- Barr, Stephen D.
Publication type:
Article