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Browsing Tag

Gene Function

50 posts
GGenetics
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
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A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family

  • September 2, 2025
Cerván-Martín M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
GGenetics
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
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Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts

  • September 1, 2025
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…
GGenetics
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
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MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review

  • September 1, 2025
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
GGenetics
Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores
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Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores

  • August 27, 2025
Ethics declarations Patients and control participants in FinnGen provided informed consent for biobank research, based on the Finnish…
GGenetics
Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity
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Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity

  • August 22, 2025
BRG1 binding exhibits a linear response to its dosage In mES cells, Brg1 encodes the major catalytic subunit…
GGenetics
Tamoxifen induces PI3K activation in uterine cancer
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Tamoxifen induces PI3K activation in uterine cancer

  • August 22, 2025
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
GGenetics
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
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A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant

  • August 22, 2025
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
GGenetics
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
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KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease

  • August 20, 2025
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
HHealth
Tracing the evolution of single-cell 3D genomes in Kras-driven cancers
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Tracing the evolution of single-cell 3D genomes in Kras-driven cancers

  • August 19, 2025
Ethics Statement All animal studies were approved by the Institutional Animal Care and Use Committee of Yale University.…
GGenetics
Large-scale genome-wide analyses of stuttering
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Large-scale genome-wide analyses of stuttering

  • August 17, 2025
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…
GGenetics
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes
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LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes

  • August 12, 2025
Uffelmann, E. et al. Genome-wide association studies. Nat. Rev. Methods Prim. 1, 59 (2021). CAS  Google Scholar  Visscher,…
GGenetics
Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states
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Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states

  • August 11, 2025
Regev, A. et al. The human cell atlas. eLife 6, e27041 (2017). PubMed  PubMed Central  Google Scholar  Karlsson,…
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