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

Results: 18

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
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
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
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
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
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
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 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
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
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
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
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
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
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
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
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
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