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Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 9

Results: 8

1

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 802, doi. 10.1093/hmg/ddae013

By:

Aljammal, Rawaa;
Saravanan, Thamaraiselvi;
Guan, Tongju;
Rhodes, Scott;
Robichaux, Michael A;
Ramamurthy, Visvanathan

Publication type:

Article

2

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 739, doi. 10.1093/hmg/ddae003

By:

Greatbatch, Connor J;
Lu, Qinyi;
Hung, Sandy;
Barnett, Alexander J;
Wing, Kristof;
Liang, Helena;
Han, Xikun;
Zhou, Tiger;
Siggs, Owen M;
Mackey, David A;
Cook, Anthony L;
Senabouth, Anne;
Liu, Guei-Sheung;
Craig, Jamie E;
MacGregor, Stuart;
Powell, Joseph E;
Hewitt, Alex W

Publication type:

Article

3

Correction to: Enhanced tau pathology via RanBP9 and Hsp90/Hsc70 chaperone complexes.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 9, p. 835, doi. 10.1093/hmg/ddae026
Publication type:: Article

4

Correction to: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 9, p. 836, doi. 10.1093/hmg/ddae017
Publication type:: Article

5

Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 818, doi. 10.1093/hmg/ddae015

By:

Fernández-Varas, Beatriz;
Manguan-García, Cristina;
Rodriguez-Centeno, Javier;
Mendoza-Lupiáñez, Lucía;
Calatayud, Joaquin;
Perona, Rosario;
Martín-Martínez, Mercedes;
Gutierrez-Rodriguez, Marta;
Benítez-Buelga, Carlos;
Sastre, Leandro

Publication type:

Article

6

Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 787, doi. 10.1093/hmg/ddae011

By:

McCallum-Loudeac, Jeremy;
Moody, Edward;
Williams, Jack;
Johnstone, Georgia;
Sircombe, Kathleen J;
Clarkson, Andrew N;
Wilson, Megan J

Publication type:

Article

7

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 768, doi. 10.1093/hmg/ddae008

By:

Zanfardino, Paola;
Amati, Alessandro;
Doccini, Stefano;
Cox, Sharon N;
Tullo, Apollonia;
Longo, Giovanna;
D'Erchia, Annamaria;
Picardi, Ernesto;
Nesti, Claudia;
Santorelli, Filippo M;
Petruzzella, Vittoria

Publication type:

Article

8

SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 9, p. 752, doi. 10.1093/hmg/ddae005

By:

Huang, Nanxi;
Wang, Qiaochu;
Bernard, Robert B;
Chen, Chao-Yang;
Hu, Je-Ming;
Wang, Jehng-Kang;
Chan, Khee-Siang;
Johnson, Michael D;
Lin, Chen-Yong

Publication type:

Article