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

Results: 8

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

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

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

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

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