Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 23

Results: 18

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4572, doi. 10.1093/hmg/ddx339

By:

Chan, Wilson Cheuk Wing;
Kwok Yeung Tsang;
Yin Wo Cheng;
Ng, Vivian Chor Wing;
Chik, Halina;
Zhi Jia Tan;
Boot-Handford, Raymond;
Boyde, Alan;
Cheung, Kenneth Man Chee;
Cheah, Kathryn Song Eng;
Chan, Danny

Publication type:

Article

Discovery of susceptibility loci associated with tuberculosis in Han Chinese.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4752, doi. 10.1093/hmg/ddx365

By:

Hui Qi;
Yong-Biao Zhang;
Lin Sun;
Cheng Chen;
Biao Xu;
Fang Xu;
Jia-Wen Liu;
Jin-Cheng Liu;
Chen Chen;
Wei-Wei Jiao;
Chen Shen;
Jing Xiao;
Jie-Qiong Li;
Ya-Jie Guo;
Yong-Hong Wang;
Qin-Jing Li;
Qing-Qin Yin;
Ying-Jia Li;
Ting Wang;
Xing-Yun Wang

Publication type:

Article

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 23, p. 4764, doi. 10.1093/hmg/ddx376
Publication type:: Article

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4741, doi. 10.1093/hmg/ddx356

By:

Biswas, Pooja;
Duncan, Jacque L.;
Ali, Muhammad;
Hiroko Matsui;
Naeem, Muhammad Asif;
Raghavendra, Pongali B.;
Frazer, Kelly A.;
Arts, Heleen H.;
Riazuddin, Sheikh;
Akram, Javed;
Hejtmancik, J. Fielding;
Riazuddin, S. Amer;
Ayyagari, Radha

Publication type:

Article

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349

By:

Duplomb, Laurence;
Droin, Nathalie;
Bouchot, Olivier;
Thauvin-Robinet, Christel;
Bruel, Ange-Line;
Thevenon, Julien;
Callier, Patrick;
Meurice, Guillaume;
Pata-Merci, Noémie;
Loffroy, Romaric;
Vandroux, David;
Costa, Romain D. A.;
Carmignac, Virginie;
Solary, Eric;
Faivre, Laurence

Publication type:

Article

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4657, doi. 10.1093/hmg/ddx347

By:

Srivastava, Shalabh;
Ramsbottom, Simon A.;
Molinari, Elisa;
Alkanderi, Sumaya;
Filby, Andrew;
White, Kathryn;
Henry, Charline;
Saunier, Sophie;
Miles, Colin G.;
Sayer, John A.

Publication type:

Article

Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4728, doi. 10.1093/hmg/ddx355

By:

Katrancha, Sara M.;
Yi Wu;
Minsheng Zhu;
Eipper, Betty A.;
Koleske, Anthony J.;
Mains, Richard E.

Publication type:

Article

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4689, doi. 10.1093/hmg/ddx351

By:

Theil, Arjan F.;
Mandemaker, Imke K.;
van den Akker, Emile;
Swagemakers, Sigrid M. A.;
Raams, Anja;
Wüst, Tatjana;
Marteijn, Jurgen A.;
Giltay, Jacques C.;
Colombijn, Richard M.;
Moog, Ute;
Kotzaeridou, Urania;
Ghazvini, Mehrnaz;
von Lindern, Marieke;
Hoeijmakers, Jan H. J.;
Jaspers, Nicolaas G. J.;
van der Spek, Peter J.;
Vermeulen, Wim

Publication type:

Article

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4699, doi. 10.1093/hmg/ddx352

By:

Guarnieri, Fabrizia C.;
Pozzi, Davide;
Raimondi, Andrea;
Fesce, Riccardo;
Valente, Maria M.;
Delvecchio, Vincenza S.;
Van Esch, Hilde;
Matteoli, Michela;
Benfenati, Fabio;
D'Adamo, Patrizia;
Valtorta, Flavia

Publication type:

Article

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4715, doi. 10.1093/hmg/ddx354

By:

Shin-Ichi Inoue;
Shingo Takahara;
Takeo Yoshikawa;
Tetsuya Niihori;
Kazuhiko Yanai;
Yoichi Matsubara;
Yoko Aoki

Publication type:

Article

The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4617, doi. 10.1093/hmg/ddx344

By:

Baker, Zakery N.;
Jett, Kimberly;
Boulet, Aren;
Hossain, Amzad;
Cobine, Paul A.;
Byung-Eun Kim;
El Zawily, Amr M.;
Ling Lee;
Tibbits, Glen F.;
Petris, Michael J.;
Leary, Scot C.

Publication type:

Article

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4629, doi. 10.1093/hmg/ddx345

By:

Armstrong, Laura C.;
Westlake, Grant;
Snow, John P.;
Cawthon, Bryan;
Armour, Eric;
Bowman, Aaron B.;
Ess, Kevin C.

Publication type:

Article

Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4606, doi. 10.1093/hmg/ddx342

By:

Burnett, Lisa Cole;
Hubner, Gabriela;
LeDuc, Charles A.;
Morabito, Michael V.;
Carli, Jayne F. Martin;
Leibel, Rudolph L.

Publication type:

Article

Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4668, doi. 10.1093/hmg/ddx348

By:

Moller, Annekathrin;
Bauer, Claudia S.;
Cohen, Rebecca N.;
Webster, Christopher P.;
De Vos, Kurt J.

Publication type:

Article

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4588, doi. 10.1093/hmg/ddx341

By:

Siegmund, Stephanie E.;
Hua Yang;
Sharma, Rohit;
Javors, Martin;
Skinner, Owen;
Mootha, Vamsi;
Hirano, Michio;
Schon, Eric A.

Publication type:

Article

Pyroglutamate-amyloid-β peptide expression in Drosophila leads to caspase-dependent and endoplasmic reticulum stress-related progressive neurodegeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4642, doi. 10.1093/hmg/ddx346

By:

Leo Tsuda;
Yasuhiro Omata;
Yasutoyo Yamasaki;
Ryunosuke Minami;
Young-Mi Lim

Publication type:

Article

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4556, doi. 10.1093/hmg/ddx335

By:

Palencia-Campos, Adrian;
Ullah, Asmat;
Nevado, Julian;
Yıldırım, Ruken;
Unal, Edip;
Ciorraga, Maria;
Barruz, Pilar;
Chico, Lucia;
Piceci-Sparascio, Francesca;
Guida, Valentina;
De Luca, Alessandro;
Kayserili, Hülya;
Ullah, Irfan;
Burmeister, Margit;
Lapunzina, Pablo;
Ahmad, Wasim;
Morales, Aixa V.;
Ruiz-Perez, Victor L.

Publication type:

Article

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4541, doi. 10.1093/hmg/ddx333

By:

Raffa, Salvatore;
Scrofani, Cristina;
Valente, Sabatino;
Micaloni, Andrea;
Forte, Maurizio;
Bianchi, Franca;
Coluccia, Roberta;
Geurts, Aron M.;
Sciarretta, Sebastiano;
Volpe, Massimo;
Torrisi, Maria Rosaria;
Rubattu, Speranza

Publication type:

Article