Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 8

Results: 9

Correction to: Expression variation of long noncoding RNAs in dopaminergic cells-derived from stem cells and their MPP<sup>+</sup> induced PD models.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 8, p. 749, doi. 10.1093/hmg/ddaf034
Publication type:: Article

Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosis.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 739, doi. 10.1093/hmg/ddaf017

By:

Patel, Maulikkumar;
Pottier, Cyril;
Fan, Kang-Hsien;
Cetin, Arda;
Johnson, Matthew;
Ali, Muhammad;
Liu, Menghan;
Gorijala, Priyanka;
Budde, John;
Shi, Ruyu;
Cohen, Ann D;
Becker, James T;
Snitz, Beth E;
Aizenstein, Howard;
Lopez, Oscar L;
Morris, John C;
Kamboh, M Ilyas;
Cruchaga, Carlos

Publication type:

Article

A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 699, doi. 10.1093/hmg/ddaf015

By:

Ilboudo, Yann;
Brosseau, Nicolas;
Lo, Ken Sin;
Belhaj, Hicham;
Moutereau, Stéphane;
Marshall, Kwesi;
Reid, Marvin;
Kutlar, Abdullah;
Ashley-Koch, Allison E;
Telen, Marilyn J;
Joly, Philippe;
Galactéros, Frédéric;
Bartolucci, Pablo;
Lettre, Guillaume

Publication type:

Article

Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 726, doi. 10.1093/hmg/ddaf014

By:

Holtzhausen, Christian;
Heil, Lorena;
Klingel, Karin;
Fox, Henrik;
Gummert, Jan;
Gärtner, Anna;
Schmidt, Andreas;
Krüger, Marcus;
Kirfel, Gregor;
Ven, Peter F M van der;
Milting, Hendrik;
Clemen, Christoph S;
Schröder, Rolf;
Fürst, Dieter O;
Tiesmeier, Jens

Publication type:

Article

BMP4-GPX4 can improve the ferroptosis phenotype of retinal ganglion cells and enhance their differentiation ability after retinal stem cell transplantation in glaucoma with high intraocular pressure.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 673, doi. 10.1093/hmg/ddaf011

By:

Fang, Chuankai;
He, Di;
Qian, Yafen;
Shen, Xiaomei

Publication type:

Article

A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 668, doi. 10.1093/hmg/ddaf010

By:

Han, Wenqing;
Yang, Run;
Chen, Xin;
Chen, Ying;
Zhang, Tianyu;
Ma, Jing

Publication type:

Article

Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 651, doi. 10.1093/hmg/ddaf003

By:

Antonyan, Lilit;
Zhang, Xin;
Ni, Anjie;
Peng, Huashan;
Alsuwaidi, Shaima;
Fleming, Peter;
Zhang, Ying;
Semenak, Amelia;
Macintosh, Julia;
Wu, Hanrong;
Hettige, Nuwan C;
Jefri, Malvin;
Ernst, Carl

Publication type:

Article

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 684, doi. 10.1093/hmg/ddae199

By:

Chalkley, Mary-Bronwen L;
Guerin, Lindsey N;
Iyer, Tenhir;
Mallahan, Samantha;
Nelson, Sydney;
Sahin, Mustafa;
Hodges, Emily;
Ess, Kevin C;
Ihrie, Rebecca A

Publication type:

Article

Decomposing the genetic background of chronic back pain.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 8, p. 711, doi. 10.1093/hmg/ddae195

By:

Elgaeva, Elizaveta E;
Zorkoltseva, Irina V;
Nostaeva, Arina V;
Verzun, Dmitrii A;
Tiys, Evgeny S;
Timoshchuk, Anna N;
Kirichenko, Anatoliy V;
Svishcheva, Gulnara R;
Freidin, Maxim B;
Williams, Frances M K;
Suri, Pradeep;
Aulchenko, Yurii S;
Axenovich, Tatiana I;
Tsepilov, Yakov A

Publication type:

Article