Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 21

Results: 8

Correction to: Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3121, doi. 10.1093/hmg/ddad148
Publication type:
Article
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3090, doi. 10.1093/hmg/ddad132
By:
- Fassad, Mahmoud R;
- Rumman, Nisreen;
- Junger, Katrin;
- Patel, Mitali P;
- Thompson, James;
- Goggin, Patricia;
- Ueffing, Marius;
- Beyer, Tina;
- Boldt, Karsten;
- Lucas, Jane S;
- Mitchison, Hannah M
Publication type:
Article
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3063, doi. 10.1093/hmg/ddad130
By:
- Koop, Klaas;
- Yuan, Weimin;
- Tessadori, Federico;
- Rodriguez-Polanco, Wilmer R;
- Grubbs, Jeremy;
- Zhang, Bo;
- Osmond, Matt;
- Graham, Gail;
- Sawyer, Sarah;
- Conboy, Erin;
- Vetrini, Francesco;
- Treat, Kayla;
- Płoski, Rafal;
- Pienkowski, Victor Murcia;
- Kłosowska, Anna;
- Fieg, Elizabeth;
- Krier, Joel;
- Mallebranche, Coralie;
- Alban, Ziegler;
- Aldinger, Kimberly A
Publication type:
Article
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3078, doi. 10.1093/hmg/ddad129
By:
- Kaltak, Melita;
- Corradi, Zelia;
- Collin, Rob W J;
- Swildens, Jim;
- Cremers, Frans P M
Publication type:
Article
Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3053, doi. 10.1093/hmg/ddad128
By:
- Schmitt, Heather M;
- Hake, Kristyn M;
- Perkumas, Kristin M;
- Lê, Brandon M;
- Suarez, Maria F;
- Ieso, Michael L De;
- Rahman, Rashad S;
- Johnson, William M;
- Gomez-Caraballo, María;
- Ashley-Koch, Allison E;
- Hauser, Michael A;
- Stamer, W Daniel
Publication type:
Article
JMJD3 and SNAI2 synergistically protect against Parkinson's disease by mediating the YAP/HIF1α signaling pathway in a mouse model.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3040, doi. 10.1093/hmg/ddad115
By:
- Dong, Li;
- Gao, Lianbo
Publication type:
Article
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3029, doi. 10.1093/hmg/ddad058
By:
- Sarparanta, Jaakko;
- Jonson, Per Harald;
- Reimann, Jens;
- Vihola, Anna;
- Luque, Helena;
- Penttilä, Sini;
- Johari, Mridul;
- Savarese, Marco;
- Hackman, Peter;
- Kornblum, Cornelia;
- Udd, Bjarne
Publication type:
Article
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 21, p. 3105, doi. 10.1093/hmg/ddad123
By:
- Davis, Kasey N;
- Qu, Ping-Ping;
- Ma, Shining;
- Lin, Ling;
- Plastini, Melanie;
- Dahl, Niklas;
- Plazzi, Giuseppe;
- Pizza, Fabio;
- O'Hara, Ruth;
- Wong, Wing Hung;
- Hallmayer, Joachim;
- Mignot, Emmanuel;
- Zhang, Xianglong;
- Urban, Alexander E
Publication type:
Article