Works in Human Molecular Genetics, 2025, Vol 34, Issue 15

Results: 10

Correction to: The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease Open Access.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 15, p. 1341, doi. 10.1093/hmg/ddaf112
Publication type:: Article

Expression of Concern: Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer's disease Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 15, p. 1343, doi. 10.1093/hmg/ddaf104
Publication type:: Article

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

Published in:: Human Molecular Genetics, 2025, v. 34, n. 15, p. 1337, doi. 10.1093/hmg/ddaf095
Publication type:: Article

Whole-exome sequencing identifies 5 novel genes associated with carpal tunnel syndrome.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 15, p. 1255, doi. 10.1093/hmg/ddaf076

By:

Wang, Zi-Yi;
He, Xiao-Yu;
Wu, Bang-Sheng;
Yang, Liu;
You, Jia;
Liu, Wei-Shi;
Feng, Jian-Feng;
Cheng, Wei;
Yu, Jin-Tai

Publication type:

Article

Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 15, p. 1328, doi. 10.1093/hmg/ddaf083

By:

Bi, Yan;
Sun, Jingjing;
Ren, Decheng;
Gong, Xiaohui;
Ji, Lei;
Lu, Pei;
Yuan, Fan;
Wang, Yanlin;
Li, Keyi;
Long, Lili;
He, Guang;
Ma, Li

Publication type:

Article

Correction to: TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes Free.

Published in:: Human Molecular Genetics, 2025, v. 34, n. 15, p. 1342, doi. 10.1093/hmg/ddaf094
Publication type:: Article

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 15, p. 1294, doi. 10.1093/hmg/ddaf081

By:

Lehtonen, Johanna;
Hakonen, Anna H;
Hassinen, Antti;
Lurås, Sanne Iversen;
Kaustio, Meri;
Glumoff, Virpi;
Hinrichsen, Francisca;
Li, Weiwei;
Sulonen, Anna-Maija;
Wickman, Sanna;
Almusa, Henrikki;
Polso, Minttu;
Palomäki, Maarit;
Kivirikko, Sirpa;
Avela, Kristiina;
Heiskanen, Kaarina;
Pietiäinen, Vilja;
Aittomäki, Kristiina;
Saarela, Janna

Publication type:

Article

The Nefl<sup>E397K</sup> mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 15, p. 1313, doi. 10.1093/hmg/ddaf080

By:

Pérez-López, Dennis O;
Shively, Audrey A;
Torres, F Javier Llorente;
Muchow, Roxanne;
Abu-Salah, Zaid;
Abu-Salah, Mohammed T;
Veltrop, Jackson T;
Garcia, Michael L;
Smith, Catherine L;
Cornelison, D D W;
Nichols, Nicole L;
Lorson, Monique A;
Lorson, Christian

Publication type:

Article

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants Open Access.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 15, p. 1286, doi. 10.1093/hmg/ddaf077

By:

Sikta, Neblina;
Gooley, Samuel;
Green, Timothy E;
Hoeper, Olivia;
Witkowski, Tom;
Bennett, Caitlin;
Francis, David;
Reid, Joshua;
Mao, Kevin;
Awad, Mohammed;
Roberts-Thomson, Samuel;
Bulluss, Kristian;
Clark, Jonathan;
Scheffer, Ingrid E;
Perucca, Piero;
Bennett, Mark F;
Bahlo, Melanie;
Berkovic, Samuel F;
Hildebrand, Michael S

Publication type:

Article

The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 15, p. 1265, doi. 10.1093/hmg/ddaf071

By:

Yang, Jingye;
Zhang, Jing;
Lu, Qingxiang;
Tian, Haiying;
Wang, Ke;
Liu, Zhi;
Xiong, Yu;
Li, Yadong;
Ma, Ning;
Tian, Hongxia;
Zhou, Zhongxue;
Zhou, Ding'an

Publication type:

Article