Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 22

Results: 14

Functional assessment of variants associated with Wolfram syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3815, doi. 10.1093/hmg/ddz212

By:

Riachi, Melissa;
Yilmaz, Sebahat;
Kurnaz, Erdal;
Aycan, Zehra;
Çetinkaya, Semra;
Tranebjærg, Lisbeth;
Rendtorff, Nanna Dahl;
Bitner-Glindzicz, Maria;
Bockenhauer, Detlef;
Hussain, Khalid

Publication type:

Article

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202

By:

Oláhová, Monika;
Berti, Camilla Ceccatelli;
Collier, Jack J;
Alston, Charlotte L;
Jameson, Elisabeth;
Jones, Simon A;
Edwards, Noel;
He, Langping;
Chinnery, Patrick F;
Horvath, Rita;
Goffrini, Paola;
Taylor, Robert W;
Sayer, John A

Publication type:

Article

Acute manganese treatment restores defective autophagic cargo loading in Huntington's disease cell lines.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3825, doi. 10.1093/hmg/ddz209

By:

Bryan, Miles R;
O'Brien, Michael T;
Nordham, Kristen D;
Rose, Daniel I R;
Foshage, Audra M;
Joshi, Piyush;
Nitin, Rachana;
Uhouse, Michael A;
Pardo, Alba Di;
Zhang, Ziyan;
Maglione, Vittorio;
Aschner, Michael;
Bowman, Aaron B

Publication type:

Article

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237

By:

Pelet, Anna;
Skopova, Vaclava;
Steuerwald, Ulrike;
Baresova, Veronika;
Zarhrate, Mohammed;
Plaza, Jean-Marc;
Hnizda, Ales;
Krijt, Matyas;
Souckova, Olga;
Wibrand, Flemming;
Andorsdóttir, Guðrið;
Joensen, Fróði;
Sedlak, David;
Bleyer, Anthony J;
Kmoch, Stanislav;
Lyonnet, Stanislas;
Zikanova, Marie

Publication type:

Article

Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathways.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3842, doi. 10.1093/hmg/ddz221

By:

Lopez, S Jesse;
Laufer, Benjamin I;
Beitnere, Ulrika;
Berg, Elizabeth L;
Silverman, Jill L;
O'Geen, Henriette;
Segal, David J;
LaSalle, Janine M

Publication type:

Article

Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3853, doi. 10.1093/hmg/ddz219

By:

Abdellaoui, Abdel;
Sanchez-Roige, Sandra;
Sealock, Julia;
Treur, Jorien L;
Dennis, Jessica;
Fontanillas, Pierre;
Elson, Sarah;
Team, The 23andme Research;
Nivard, Michel G;
Ip, Hill Fung;
van der Zee, Matthijs;
Baselmans, Bart M L;
Hottenga, Jouke Jan;
Willemsen, Gonneke;
Mosing, Miriam;
Lu, Yi;
Pedersen, Nancy L;
Denys, Damiaan;
Amin, Najaf;
Duijn, Cornelia M van

Publication type:

Article

AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3742, doi. 10.1093/hmg/ddz188

By:

Villalón, E;
Kline, R A;
Smith, C E;
Lorson, Z C;
Osman, E Y;
O'Day, S;
Murray, L M;
Lorson, C L

Publication type:

Article

FUS-mediated dysregulation of Sema5a, an autism-related gene, in FUS mice with hippocampus-dependent cognitive deficits.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3777, doi. 10.1093/hmg/ddz217

By:

Ho, Wan Yun;
Chang, Jer-Cherng;
Tyan, Sheue-Houy;
Yen, Yi-Chun;
Lim, Kenneth;
Tan, Bernice Siu Yan;
Ong, Jolynn;
Tucker-Kellogg, Greg;
Wong, Peiyan;
Koo, Edward;
Ling, Shuo-Chien

Publication type:

Article

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194

By:

Pelorosso, Cristiana;
Watrin, Françoise;
Conti, Valerio;
Buhler, Emmanuelle;
Gelot, Antoinette;
Yang, Xiaoxu;
Mei, Davide;
McEvoy-Venneri, Jennifer;
Manent, Jean-Bernard;
Cetica, Valentina;
Ball, Laurel L;
Buccoliero, Anna Maria;
Vinck, Antonin;
Barba, Carmen;
Gleeson, Joseph G;
Guerrini, Renzo;
Represa, Alfonso

Publication type:

Article

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166

By:

Vervoort, Lisanne;
Demaerel, Wolfram;
Rengifo, Laura Y;
Odrzywolski, Adrian;
Vergaelen, Elfi;
Hestand, Matthew S;
Breckpot, Jeroen;
Devriendt, Koen;
Swillen, Ann;
McDonald-McGinn, Donna M;
Fiksinski, Ania M;
Zinkstok, Janneke R;
Morrow, Bernice E;
Heung, Tracy;
Vorstman, Jacob A S;
Bassett, Anne S;
Chow, Eva W C;
Shashi, Vandana;
Brain, International 22q11.2;
Consortium, Behavior

Publication type:

Article

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169

By:

Wood, Katherine A;
Rowlands, Charlie F;
Qureshi, Wasay Mohiuddin Shaikh;
Thomas, Huw B;
Buczek, Weronika A;
Briggs, Tracy A;
Hubbard, Simon J;
Hentges, Kathryn E;
Newman, William G;
O'Keefe, Raymond T

Publication type:

Article

Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3734, doi. 10.1093/hmg/ddz164

By:

Strøm, Thea Bismo;
Bjune, Katrine;
Costa, Luís Teixeira da;
Leren, Trond P

Publication type:

Article

Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3792, doi. 10.1093/hmg/ddz160

By:

Su, Xin;
Rak, Malgorzata;
Tetaud, Emmanuel;
Godard, François;
Sardin, Elodie;
Bouhier, Marine;
Gombeau, Kewin;
Caetano-Anollés, Derek;
Salin, Bénédicte;
Chen, Huimei;
Rago, Jean-Paul di;
Tribouillard-Tanvier, Déborah

Publication type:

Article

Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado–Joseph disease models.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 22, p. 3691, doi. 10.1093/hmg/ddz097

By:

Mendonça, Liliana S;
Nóbrega, Clévio;
Tavino, Silvia;
Brinkhaus, Maximilian;
Matos, Carlos;
Tomé, Sandra;
Moreira, Ricardo;
Henriques, Daniel;
Kaspar, Brian K;
Almeida, Luís Pereira de

Publication type:

Article