Works matching IS 09646906 AND DT 2022 AND VI 31
Results: 337
Erratum to: Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4295, doi. 10.1093/hmg/ddy230
- By:
- Publication type:
- Article
genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4286, doi. 10.1093/hmg/ddac178
- By:
- Publication type:
- Article
Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4241, doi. 10.1093/hmg/ddac177
- By:
- Publication type:
- Article
Non-cell-autonomous activation of hedgehog signaling contributes to disease progression in a mouse model of renal cystic ciliopathy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4228, doi. 10.1093/hmg/ddac175
- By:
- Publication type:
- Article
ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4217, doi. 10.1093/hmg/ddac174
- By:
- Publication type:
- Article
Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4207, doi. 10.1093/hmg/ddac172
- By:
- Publication type:
- Article
novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4255, doi. 10.1093/hmg/ddac170
- By:
- Publication type:
- Article
Natural history of KBG syndrome in a large European cohort.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
- By:
- Publication type:
- Article
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4173, doi. 10.1093/hmg/ddac166
- By:
- Publication type:
- Article
Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4159, doi. 10.1093/hmg/ddac163
- By:
- Publication type:
- Article
Mendelian randomization study to assess the genetic liability of gastroesophageal reflux disease for cardiovascular diseases and risk factors.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4275, doi. 10.1093/hmg/ddac162
- By:
- Publication type:
- Article
Clock genes rescue nphp mutations in zebrafish.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4143, doi. 10.1093/hmg/ddac160
- By:
- Publication type:
- Article
lncRNA KTN1-AS1 co-regulates a variety of Myc-target genes and enhances proliferation of Burkitt lymphoma cells.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4193, doi. 10.1093/hmg/ddac159
- By:
- Publication type:
- Article
ACE2 and TMPRSS2 SARS-CoV-2 infectivity genes: deep mutational scanning and characterization of missense variants.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4183, doi. 10.1093/hmg/ddac157
- By:
- Publication type:
- Article
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4121, doi. 10.1093/hmg/ddac156
- By:
- Publication type:
- Article
Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4107, doi. 10.1093/hmg/ddac164
- By:
- Publication type:
- Article
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 3945, doi. 10.1093/hmg/ddac158
- By:
- Publication type:
- Article
Immunomodulatory functions of the circ_001678/miRNA-326/ZEB1 axis in non-small cell lung cancer via the regulation of PD-1/PD-L1 pathway.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4094, doi. 10.1093/hmg/ddac155
- By:
- Publication type:
- Article
impact of fatty acids biosynthesis on the risk of cardiovascular diseases in Europeans and East Asians: a Mendelian randomization study.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4034, doi. 10.1093/hmg/ddac153
- By:
- Publication type:
- Article
Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4055, doi. 10.1093/hmg/ddac151
- By:
- Publication type:
- Article
Comparative genomic analyses of multiple backcross mouse populations suggest SGCG as a novel potential obesity-modifier gene.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4019, doi. 10.1093/hmg/ddac150
- By:
- Publication type:
- Article
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4075, doi. 10.1093/hmg/ddac149
- By:
- Publication type:
- Article
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4006, doi. 10.1093/hmg/ddac148
- By:
- Publication type:
- Article
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4087, doi. 10.1093/hmg/ddac145
- By:
- Publication type:
- Article
risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 3975, doi. 10.1093/hmg/ddac141
- By:
- Publication type:
- Article
Embryo cryopreservation leads to sex-specific DNA methylation perturbations in both human and mouse placentas.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3855, doi. 10.1093/hmg/ddac138
- Publication type:
- Article
Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 3987, doi. 10.1093/hmg/ddac083
- By:
- Publication type:
- Article
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3897, doi. 10.1093/hmg/ddac146
- Publication type:
- Article
Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retina.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3914, doi. 10.1093/hmg/ddac143
- Publication type:
- Article
Mutant VPS35-D620N induces motor dysfunction and impairs DAT-mediated dopamine recycling pathway.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3886, doi. 10.1093/hmg/ddac142
- Publication type:
- Article
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 3967, doi. 10.1093/hmg/ddac093
- By:
- Publication type:
- Article
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3846, doi. 10.1093/hmg/ddac136
- Publication type:
- Article
Cerebellar contribution to threat probability in a SCA6 mouse model.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3807, doi. 10.1093/hmg/ddac135
- Publication type:
- Article
Novel genes and sex differences in COVID-19 severity.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3789, doi. 10.1093/hmg/ddac132
- Publication type:
- Article
critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3777, doi. 10.1093/hmg/ddac131
- Publication type:
- Article
Mesenchymal stem cell-derived extracellular vesicles alleviate cervical cancer by delivering microRNA-331-3p to reduce LIM zinc finger domain containing 2 methylation in tumor cells.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3829, doi. 10.1093/hmg/ddac130
- Publication type:
- Article
Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3769, doi. 10.1093/hmg/ddac129
- Publication type:
- Article
Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3873, doi. 10.1093/hmg/ddac117
- Publication type:
- Article
Identification of shared loci associated with both Crohn's disease and leprosy in East Asians.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 22, p. 3934, doi. 10.1093/hmg/ddac101
- Publication type:
- Article
Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3741, doi. 10.1093/hmg/ddac137
- By:
- Publication type:
- Article
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3715, doi. 10.1093/hmg/ddac121
- By:
- Publication type:
- Article
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3729, doi. 10.1093/hmg/ddac120
- By:
- Publication type:
- Article
Alpha-synuclein overexpression induces epigenomic dysregulation of glutamate signaling and locomotor pathways.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3694, doi. 10.1093/hmg/ddac104
- By:
- Publication type:
- Article
Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3683, doi. 10.1093/hmg/ddac103
- By:
- Publication type:
- Article
Exome risk score for predicting susceptibility to and severity of isolated thoracic aortic aneurysm.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3672, doi. 10.1093/hmg/ddac099
- By:
- Publication type:
- Article
Polynesian-specific copy number variant encompassing the MICA gene associates with gout.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3757, doi. 10.1093/hmg/ddac094
- By:
- Publication type:
- Article
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3652, doi. 10.1093/hmg/ddac080
- By:
- Publication type:
- Article
Genetic and phenotypic links between obesity and extracellular vesicles.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3643, doi. 10.1093/hmg/ddac069
- By:
- Publication type:
- Article
Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3629, doi. 10.1093/hmg/ddac059
- By:
- Publication type:
- Article
Functional genomic assays to annotate enhancer–promoter interactions genome wide.
- Published in:
- Human Molecular Genetics, 2022, v. 31, p. R97, doi. 10.1093/hmg/ddac204
- By:
- Publication type:
- Article