Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 10

Results: 10

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 894, doi. 10.1093/hmg/ddae027

By:

Kaci, Alba;
Solheim, Marie Holm;
Silgjerd, Trine;
Hjaltadottir, Jorunn;
Hornnes, Lorentze Hope;
Molnes, Janne;
Madsen, Andre;
Sjøholt, Gry;
Bellanné-Chantelot, Christine;
Caswell, Richard;
Sagen, Jørn V;
Njølstad, Pål R;
Aukrust, Ingvild;
Bjørkhaug, Lise

Publication type:

Article

Correction to: Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 10, p. 931, doi. 10.1093/hmg/ddae053
Publication type:: Article

Correction to: ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 10, p. 930, doi. 10.1093/hmg/ddae046
Publication type:: Article

Muscle eosinophilia is a hallmark of chronic disease in facioscapulohumeral muscular dystrophy.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 872, doi. 10.1093/hmg/ddae019

By:

Nunes, Andreia M;
Ramirez, Monique M;
Garcia-Collazo, Enrique;
Jones, Takako Iida;
Jones, Peter L

Publication type:

Article

Pathways controlling neurotoxicity and proteostasis in mitochondrial complex I deficiency.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 860, doi. 10.1093/hmg/ddae018

By:

Nithianandam, Vanitha;
Sarkar, Souvarish;
Feany, Mel B

Publication type:

Article

Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 884, doi. 10.1093/hmg/ddae021

By:

Zuo, Ji-Yang;
Chen, Huan-Xin;
Yang, Qin;
He, Guo-Wei

Publication type:

Article

The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 919, doi. 10.1093/hmg/ddae014

By:

Ojewunmi, Oyesola O;
Adeyemo, Titilope A;
Oyetunji, Ajoke I;
Inyang, Bassey;
Akinrindoye, Afolashade;
Mkumbe, Baraka S;
Gardner, Kate;
Rooks, Helen;
Brewin, John;
Patel, Hamel;
Lee, Sang Hyuck;
Chung, Raymond;
Rashkin, Sara;
Kang, Guolian;
Chianumba, Reuben;
Sangeda, Raphael;
Mwita, Liberata;
Isa, Hezekiah;
Agumadu, Uche-Nnebe;
Ekong, Rosemary

Publication type:

Article

Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 850, doi. 10.1093/hmg/ddae016

By:

Bouras, Ahmed;
Lefol, Cedrick;
Ruano, Eric;
Grand-Masson, Chloé;
Auclair-Perrossier, Jessie;
Wang, Qing

Publication type:

Article

AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 905, doi. 10.1093/hmg/ddae010

By:

Shi, Tao;
Chen, Ziyi;
Li, Jin;
Wang, Hongyang;
Wang, Qiuju

Publication type:

Article

Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 837, doi. 10.1093/hmg/ddad182

By:

He(何璇), Xuan Anita;
Berenson, Anna;
Bernard, Michelle;
Weber, Chris;
Cook, Laura E;
Visel, Axel;
Bass, Juan I Fuxman;
Fisher, Shannon

Publication type:

Article