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

Results: 16

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

Contents.

Published in:: 2014
Publication type:: Other

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

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

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

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

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

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

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

Addressing Variant Pathogenicity: The TorsinA ( TOR1A) Gene as a Model.

Published in:

2014

By:

Harata, N. Charles

Publication type:

Other

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

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

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

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

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