Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 1

Results: 14

Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 122, doi. 10.1093/hmg/ddab226

By:

Watanabe, Naoki;
Nakano, Masaki;
Mitsuishi, Yachiyo;
Hara, Norikazu;
Mano, Tatsuo;
Iwata, Atsushi;
Murayama, Shigeo;
Suzuki, Toshiharu;
Ikeuchi, Takeshi;
Nishimura, Masaki

Publication type:

Article

CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 41, doi. 10.1093/hmg/ddab218

By:

Mérien, Antoine;
Tahraoui-Bories, Julie;
Cailleret, Michel;
Dupont, Jean-Baptiste;
Leteur, Céline;
Polentes, Jérôme;
Carteron, Alexandre;
Polvèche, Hélène;
Concordet, Jean-Paul;
Pinset, Christian;
Jarrige, Margot;
Furling, Denis;
Martinat, Cécile

Publication type:

Article

In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 18, doi. 10.1093/hmg/ddab211

By:

Goering, Jeremy P;
Wenger, Luke W;
Stetsiv, Marta;
Moedritzer, Michael;
Hall, Everett G;
Isai, Dona Greta;
Jack, Brittany M;
Umar, Zaid;
Rickabaugh, Madison K;
Czirok, Andras;
Saadi, Irfan

Publication type:

Article

conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 111, doi. 10.1093/hmg/ddab225

By:

Bueno-Arribas, Miranda;
Blanca, Irene;
Cruz-Cuevas, Celia;
Escalante, Ricardo;
Navas, María-Angeles;
Vincent, Olivier

Publication type:

Article

Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 156, doi. 10.1093/hmg/ddab325

By:

Salazar-Silva, R;
Dantas, Vitor Lima Goes;
Alves, Leandro Ucela;
Batissoco, Ana Carla;
Oiticica, Jeanne;
Lawrence, Elizabeth A;
Kawafi, Abdelwahab;
Yang, Yushi;
Nicastro, Fernanda Stávale;
Novaes, Beatriz Caiuby;
Hammond, Chrissy;
Kague, Erika;
Mingroni-Netto, R C

Publication type:

Article

Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 133, doi. 10.1093/hmg/ddab228

By:

Narayanan, Ramesh K;
Brewer, Megan H;
Perez-Siles, Gonzalo;
Ellis, Melina;
Ly, Carolyn;
Burgess, Andrew;
Neumann, Brent;
Nicholson, Garth A;
Vucic, Steve;
Kennerson, Marina L

Publication type:

Article

Abnormal migration behavior linked to Rac1 signaling contributes to primordial germ cell exhaustion in Fanconi anemia pathway-deficient Fancg−/− embryos.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 97, doi. 10.1093/hmg/ddab222

By:

Jarysta, Amandine;
Riou, Lydia;
Firlej, Virginie;
Lapoujade, Clémentine;
Kortulewski, Thierry;
Barroca, Vilma;
Gille, Anne-Sophie;
Dumont, Florent;
Jacques, Sébastien;
Letourneur, Franck;
Rosselli, Filippo;
Allemand, Isabelle;
Fouchet, Pierre

Publication type:

Article

ANNORE: genetic fine-mapping with functional annotation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 32, doi. 10.1093/hmg/ddab210

By:

Fisher, Virginia;
Sebastiani, Paola;
Cupples, L Adrienne;
Liu, Ching-Ti

Publication type:

Article

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224

By:

Sakamoto, Masamune;
Sasaki, Kazunori;
Sugie, Atsushi;
Nitta, Yohei;
Kimura, Tetsuaki;
Gürsoy, Semra;
Cinleti, Tayfun;
Iai, Mizue;
Sengoku, Toru;
Ogata, Kazuhiro;
Suzuki, Atsushi;
Okamoto, Nobuhiko;
Iwama, Kazuhiro;
Tsuchida, Naomi;
Uchiyama, Yuri;
Koshimizu, Eriko;
Fujita, Atsushi;
Hamanaka, Kohei;
Miyatake, Satoko;
Mizuguchi, Takeshi

Publication type:

Article

O-GlcNAc transferase Ogt regulates embryonic neuronal development through modulating Wnt/β-catenin signaling.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 57, doi. 10.1093/hmg/ddab223

By:

Shen, Hui;
Zhao, Xingsen;
Chen, Junchen;
Qu, Wenzheng;
Huang, Xiaoli;
Wang, Mengxuan;
Shao, Zhiyong;
Shu, Qiang;
Li, Xuekun

Publication type:

Article

False positive findings during genome-wide association studies with imputation: influence of allele frequency and imputation accuracy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 146, doi. 10.1093/hmg/ddab203

By:

Zhang, Zhihui;
Xiao, Xiangjun;
Zhou, Wen;
Zhu, Dakai;
Amos, Christopher I

Publication type:

Article

SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 82, doi. 10.1093/hmg/ddab220

By:

Zhao, Xin;
Feng, Zhihua;
Risher, Nicole;
Mollin, Anna;
Sheedy, Josephine;
Ling, Karen K Y;
Narasimhan, Jana;
Dakka, Amal;
Baird, John D;
Ratni, Hasane;
Lutz, Catherine;
Chen, Karen S;
Naryshkin, Nikolai A;
Ko, Chien-Ping;
Welch, Ellen;
Metzger, Friedrich;
Weetall, Marla

Publication type:

Article

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 10, doi. 10.1093/hmg/ddab196

By:

Bell, Lorenz M;
Holm, Annegret;
Matysiak, Uta;
Driever, Wolfgang;
Rößler, Jochen;
Schanze, Denny;
Wieland, Ilse;
Niemeyer, Charlotte M;
Zenker, Martin;
Kapp, Friedrich G

Publication type:

Article

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 1, doi. 10.1093/hmg/ddab026

By:

Antonarakis, Stylianos E;
Holoubek, Aleš;
Rapti, Melivoia;
Rademaker, Jesse;
Meylan, Jenny;
Iwaszkiewicz, Justyna;
Zoete, Vincent;
Wilson, Callum;
Taylor, Juliet;
Ansar, Muhammad;
Borel, Christelle;
Menzel, Olivier;
Kuželová, Kateřina;
Santoni, Federico A

Publication type:

Article