Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 2

Results: 16

A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 274, doi. 10.1093/hmg/ddz293

By:

Costa, Roberto;
Bellesso, Stefania;
Lualdi, Susanna;
Manzoli, Rosa;
Pistorio, Valeria;
Filocamo, Mirella;
Moro, Enrico

Publication type:

Article

Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 264, doi. 10.1093/hmg/ddz283

By:

Saeed, Ali;
Hoogerland, Joanne A;
Wessel, Hanna;
Heegsma, Janette;
Derks, Terry G J;
van der Veer, Eveline;
Mithieux, Gilles;
Rajas, Fabienne;
Oosterveer, Maaike H;
Faber, Klaas Nico

Publication type:

Article

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 286, doi. 10.1093/hmg/ddz290

By:

Yavarow, Zollie A;
Kang, Hye-Ri;
Waskowicz, Lauren R;
Bay, Boon-Huat;
Young, Sarah P;
Yen, Paul M;
Koeberl, Dwight D

Publication type:

Article

Differential gene expression and limited epigenetic dysregulation at the materno-fetal interface in preeclampsia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 335, doi. 10.1093/hmg/ddz287

By:

Leseva, Milena N;
Binder, Alexandra M;
Ponsonby, Anne-Louise;
Vuillermin, Peter;
Saffery, Richard;
Michels, Karin B;
Group, Barwon Infant Study Investigator

Publication type:

Article

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 305, doi. 10.1093/hmg/ddz284

By:

Schwenty-Lara, Janina;
Nehl, Denise;
Borchers, Annette

Publication type:

Article

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 320, doi. 10.1093/hmg/ddz310

By:

Behne, Robert;
Teinert, Julian;
Wimmer, Miriam;
D'Amore, Angelica;
Davies, Alexandra K;
Scarrott, Joseph M;
Eberhardt, Kathrin;
Brechmann, Barbara;
Chen, Ivy Pin-Fang;
Buttermore, Elizabeth D;
Barrett, Lee;
Dwyer, Sean;
Chen, Teresa;
Hirst, Jennifer;
Wiesener, Antje;
Segal, Devorah;
Martinuzzi, Andrea;
Duarte, Sofia T;
Bennett, James T;
Bourinaris, Thomas

Publication type:

Article

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 177, doi. 10.1093/hmg/ddz211

By:

Longo, Fabiana;
Benedetti, Sara;
Zambon, Alberto A;
Sora, Maria Grazia Natali;
Resta, Chiara Di;
Ritis, Daniele De;
Quattrini, Angelo;
Maltecca, Francesca;
Ferrari, Maurizio;
Previtali, Stefano Carlo

Publication type:

Article

Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 295, doi. 10.1093/hmg/ddz291

By:

Riedmayr, Lisa M;
Böhm, Sybille;
Biel, Martin;
Becirovic, Elvir

Publication type:

Article

The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 248, doi. 10.1093/hmg/ddz281

By:

Shohayeb, Belal;
Ho, Uda;
Yeap, Yvonne Y;
Parton, Robert G;
Millard, S Sean;
Xu, Zhiheng;
Piper, Michael;
Ng, Dominic C H

Publication type:

Article

Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 238, doi. 10.1093/hmg/ddz279

By:

Albizua, Igor;
Chopra, Pankaj;
Sherman, Stephanie L;
Gambello, Michael J;
Warren, Stephen T

Publication type:

Article

Deletions on mouse Yq lead to upregulation of multiple X- and Y-linked transcripts in spermatids.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 351, doi. 10.1093/hmg/ddz192

By:

Ellis, Peter J I;
Clemente, Emily J;
Ball, Penny;
Touré, Aminata;
Ferguson, Lydia;
Turner, James M A;
Loveland, Kate L;
Affara, Nabeel A;
Burgoyne, Paul S

Publication type:

Article

Ca<sup>2+</sup>-permeable TRPV1 pain receptor knockout rescues memory deficits and reduces amyloid-β and tau in a mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 228, doi. 10.1093/hmg/ddz276

By:

Kim, Juyong;
Lee, Siyoung;
Kim, Jaekyoon;
Ham, Sangwoo;
Park, Jung Han Yoon;
Han, Seungbong;
Jung, Yong-Keun;
Shim, Insop;
Han, Jung-Soo;
Lee, Ki Won;
Kim, Jiyoung

Publication type:

Article

Bim contributes to the progression of Huntington's disease-associated phenotypes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 216, doi. 10.1093/hmg/ddz275

By:

Roberts, Sheridan L;
Evans, Tracey;
Yang, Yi;
Fu, Yuhua;
Button, Robert W;
Sipthorpe, Rebecca J;
Cowan, Katrina;
Valionyte, Evelina;
Anichtchik, Oleg;
Li, Huiliang;
Lu, Boxun;
Luo, Shouqing

Publication type:

Article

Treatment with JQ1, a BET bromodomain inhibitor, is selectively detrimental to R6/2 Huntington's disease mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 202, doi. 10.1093/hmg/ddz264

By:

Kedaigle, Amanda J;
Reidling, Jack C;
Lim, Ryan G;
Adam, Miriam;
Wu, Jie;
Wassie, Brook;
Stocksdale, Jennifer T;
Casale, Malcolm S;
Fraenkel, Ernest;
Thompson, Leslie M

Publication type:

Article

Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 189, doi. 10.1093/hmg/ddz246

By:

Chai, Jin-Fang;
Raichur, Suryaprakash;
Khor, Ing Wei;
Torta, Federico;
Chew, Wee Siong;
Herr, Deron Raymond;
Ching, Jianhong;
Kovalik, Jean-Paul;
Khoo, Chin Meng;
Wenk, Markus R;
Tai, E Shyong;
Sim, Xueling

Publication type:

Article

Corrigendum to: Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 2, p. 352, doi. 10.1093/hmg/ddz224

By:

Sharma, Lokendra Kumar;
Tiwari, Meenakshi;
Rai, Neeraj Kumar;
Bai, Yidong

Publication type:

Article