Human Molecular Genetics - curre
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近期历史最近 100 条记录

2021-06-18 Erratum to: Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases Fowler A, Hebron M, Balaraman K, et al.
2021-06-18 Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19 Ma Y, Huang Y, Zhao S, et al.
2021-06-18 A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect Kohl S, Llavona P, Sauer A, et al.
2021-06-18 ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import Lin B, Phung T, Higgins N, et al.
2021-06-18 Ancient and modern mitogenomes from Central Argentina: new insights into population continuity, temporal depth and migration in South America García A, Nores R, Motti J, et al.
2021-06-18 The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade McMahon O, Hallam T, Patel S, et al.
2021-06-18 Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function Shadrina A, Zlobin A, Zaytseva O, et al.
2021-06-18 ADAM10 hyperactivation acts on piccolo to deplete synaptic vesicle stores in Huntington’s disease Cozzolino F, Vezzoli E, Cheroni C, et al.
2021-04-26 Evolutionary genomics in Africa Ramsay M, Schlebusch C, Davies K.
2021-04-26 Genetic diversity of the Sudanese: insights on origin and implications for health Ibrahim M.
2021-04-26 Human adaptation, demography and cattle domestication: an overview of the complexity of lactase persistence in Africa Campbell M, Ranciaro A.
2021-04-26 Kidney disease and APOL1 Yusuf A, Govender M, Brandenburg J, et al.
2021-04-26 Evolutionary forces in diabetes and hypertension pathogenesis in Africans Meeks K, Bentley A, Adeyemo A, et al.
2021-04-26 Structure and ancestry patterns of Ethiopians in genome-wide autosomal DNA Hellenthal G, Bird N, Morris S.
2021-04-26 Genetic evidence and historical theories of the Asian and African origins of the present Malagasy population Heiske M, Alva O, Pereda-Loth V, et al.
2021-04-26 Evolutionary history of sickle-cell mutation: implications for global genetic medicine Esoh K, Wonkam A.
2021-04-26 Sub-Saharan African information potential to unveil adaptations to infectious disease Pedro N, Pinto R, Cavadas B, et al.
2021-04-26 Inferring recombination patterns in African populations van Eeden G, Uren C, Möller M, et al.
2021-04-26 The deep population history in Africa Hollfelder N, Breton G, Sjödin P, et al.
2021-04-26 Evolutionary genetics of skin pigmentation in African populations Feng Y, McQuillan M, Tishkoff S.
2021-04-26 Bantu-speaker migration and admixture in southern Africa Choudhury A, Sengupta D, Ramsay M, et al.
2021-04-26 Anthropological genetics perspectives on the transatlantic slave trade Fortes-Lima C, Verdu P.
2021-04-26 The demography of the Canary Islands from a genetic perspective Fregel R, Ordóñez A, Serrano J.
2021-04-26 Population history of North Africa based on modern and ancient genomes Lucas-Sánchez M, Serradell J, Comas D.
2021-04-26 Mycobacterium tuberculosis complex and human coadaptation: a two-way street complicating host susceptibility to TB Uren C, Hoal E, Möller M.
2021-04-26 Demographic history and admixture dynamics in African Sahelian populations Černý V, Fortes-Lima C, Tříska P.
2021-04-26 The genomic prehistory of peoples speaking Khoisan languages Pakendorf B, Stoneking M.
2021-04-26 Insights from ancient DNA analysis of Egyptian human mummies: clues to disease and kinship Gad Y, Hassan N, Mousa D, et al.
2021-04-09 EDITORIAL: ‘An Improbable Fifteen Years as Executive Editor’ Wynshaw-Boris A.
2021-04-09 miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy Hinman J, Ngo K, Kim D, et al.
2021-04-09 Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome Hsu Y, Seo S, Sheffield V.
2021-04-09 Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk Lubbe S, Bustos B, Hu J, et al.
2021-04-09 Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence Mulder R, Neumann A, Cecil C, et al.
2021-04-09 Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions Bredrup C, Cristea I, Safieh L, et al.
2021-04-09 Novel variants and cellular studies on patients’ primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis Lattante S, Doronzio P, Conte A, et al.
2021-04-09 Glutathione S-transferase Pi (Gstp) proteins regulate neuritogenesis in the developing cerebral cortex Liu X, Blazejewski S, Bennison S, et al.
2021-04-09 Downregulation of long non-protein coding RNA MVIH impairs glioblastoma cell proliferation and invasion through an miR-302a-dependent mechanism Cardoso A, Morais C, Rebelo O, et al.
2021-04-09 A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies Bocca C, Le Paih V, Chao de la Barca J, et al.
2021-04-09 On the shoulders of giants Eng C.
2021-04-09 Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development Gunaseelan S, Wang Z, Tong V, et al.
2021-03-22 Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia Rodden L, Chutake Y, Gilliam K, et al.
2021-03-22 Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy Kaminski D, Yaghootfam C, Matthes F, et al.
2021-03-22 Merlin cooperates with neurofibromin and Spred1 to suppress the Ras–Erk pathway Cui Y, Ma L, Schacke S, et al.
2021-03-22 Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans Bagheri-Fam S, Combes A, Ling C, et al.
2021-03-22 Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios Sole-Navais P, Bacelis J, Helgeland Ø, et al.
2021-03-22 Urinary metabolite quantitative trait loci in children and their interaction with dietary factors Calvo-Serra B, Maitre L, Lau C, et al.
2021-03-22 A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish Koh A, Tao S, Jing Goh Y, et al.
2021-03-22 TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly Jacquemin V, Antoine M, Duerinckx S, et al.
2021-03-22 Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex Arsenault J, Hooper A, Gholizadeh S, et al.
2021-03-22 Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon Wonkam A, Manyisa N, Bope C, et al.
2020-03-13 Corrigendum to: Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis Farg M, Soo K, Warraich S, et al.
2020-03-13 Prediagnostic breast milk DNA methylation alterations in women who develop breast cancer Salas L, Lundgren S, Browne E, et al.
2020-03-13 Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT Chongtham A, Bornemann D, Barbaro B, et al.
2020-03-13 Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46−/− mice Yang L, Slone J, Li Z, et al.
2020-03-13 A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13 Dziurdzik S, Bean B, Davey M, et al.
2020-03-13 Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides Kuang L, Hashimoto K, Huang E, et al.
2020-03-13 Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Ansar M, Ranza E, Shetty M, et al.
2020-03-13 Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants Chapman G, Moreau J, I P E, et al.
2020-03-13 The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development Dash S, Brastrom L, Patel S, et al.
2020-03-13 G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice Arbez N, He X, Huang Y, et al.
2020-03-13 Environmental enrichment during the chronic phase after experimental stroke promotes functional recovery without synergistic effects of EphA4 targeted therapy de Boer A, Storm A, Gomez-Soler M, et al.
2020-03-13 Insights into the genetic basis of retinal detachment Boutin T, Charteris D, Chandra A, et al.
2020-03-13 Sigma-1 receptor is a key genetic modulator in amyotrophic lateral sclerosis Couly S, Khalil B, Viguier V, et al.
2020-03-13 A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation Marsman J, Gimenez G, Day R, et al.
2020-03-13 Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis Yang X, Bayat V, DiDonato N, et al.
2020-02-14 Muscle weakness and selective muscle atrophy in osteoprotegerin-deficient mice Hamoudi D, Bouredji Z, Marcadet L, et al.
2020-02-14 Synergistic toxicity between tau and amyloid drives neuronal dysfunction and neurodegeneration in transgenic C. elegans Benbow S, Strovas T, Darvas M, et al.
2020-02-14 Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder Chen C, Pal R, Yin J, et al.
2020-02-14 Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival Tiano F, Amati F, Cherubini F, et al.
2020-02-14 Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase Peter B, Farge G, Pardo-Hernandez C, et al.
2020-02-14 Integrating DNA sequencing and transcriptomic data for association analyses of low-frequency variants and lipid traits Yang T, Wu C, Wei P, et al.
2020-02-14 Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy Li H, Yuan S, Minegishi Y, et al.
2020-02-14 Mutant huntingtin interacts with the sterol regulatory element-binding proteins and impairs their nuclear import Di Pardo A, Monyror J, Morales L, et al.
2020-02-14 GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy Gao M, Liu L, Wang X, et al.
2020-02-14 Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function Flynn M, Whitton L, Donohoe G, et al.
2020-02-14 Rhodopsin signaling mediates light-induced photoreceptor cell death in rd10 mice through a transducin-independent mechanism Sundar J, Munezero D, Bryan-Haring C, et al.
2020-02-14 Enhanced amyloid-β generation by γ-secretase complex in DRM microdomains with reduced cholesterol levels Hata S, Hu A, Piao Y, et al.
2020-02-14 Refining genome-wide associated loci for serum uric acid in individuals with African ancestry Chen G, Shriner D, Doumatey A, et al.
2020-02-14 Progressive cardiac arrhythmias and ECG abnormalities in the Huntington’s disease BACHD mouse model Zhu Y, Shamblin I, Rodriguez E, et al.
2020-02-14 Corrigendum: Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms Lodato M, Walsh C.
2020-02-14 Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response Coles C, Gordon L, Hunt L, et al.
2020-01-13 Within family Mendelian randomization studies Davies N, Howe L, Brumpton B, et al.
2020-01-13 Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins Fernandopulle M, Wang G, Nixon-Abell J, et al.
2020-01-13 Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects Fahrner J, Bjornsson H.
2020-01-13 Genes, pathways and risk prediction in Alzheimer’s disease Hardy J, Escott-Price V.
2020-01-13 Progress in the genetic analysis of Parkinson’s disease Singleton A, Hardy J.
2020-01-13 Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms Lodato M, Walsh C.
2020-01-13 Validity of polygenic risk scores: are we measuring what we think we are? Janssens A.
2020-01-13 DNA damage and hormone-related cancer: a repair pathway view Pooley K, Dunning A.
2020-01-13 From enhanceropathies to the epigenetic manifold underlying human cognition Vitriolo A, Gabriele M, Testa G.
2020-01-13 Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated Cabrera C, Ng F, Nicholls H, et al.
2020-01-13 Rare and common variant discovery in complex disease: the IBD case study Venkataraman G, Rivas M.
2020-01-13 Towards clinical utility of polygenic risk scores Lambert S, Abraham G, Inouye M.
2020-01-13 Synapse diversity and synaptome architecture in human genetic disorders Grant S.
2020-01-13 Diverse and dynamic DNA modifications in brain and diseases Armstrong M, Jin Y, Allen E, et al.
2020-01-13 The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases Bellen H, Wangler M, Yamamoto S.

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