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- 2023
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Mark
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases : 2005-2022
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- Contribution to journal › Article
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Mark
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
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- Contribution to journal › Article
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Mark
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity
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- Contribution to journal › Article
- 2022
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Mark
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
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- Contribution to journal › Article
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Mark
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
(
- Contribution to journal › Article
- 2020
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Mark
Effect of rare coding variants in the CFI gene on Factor I expression levels
(
- Contribution to journal › Article
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Mark
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
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- Contribution to journal › Article
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Mark
Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease
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- Contribution to journal › Article
- 2019
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Mark
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
(
- Contribution to journal › Article
- 2018
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Mark
A genome-wide association study of IgM antibody against phosphorylcholine : Shared genetics and phenotypic relationship to chronic lymphocytic leukemia
(
- Contribution to journal › Article
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Mark
Consortium-based genome-wide meta-analysis for childhood dental caries traits
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- Contribution to journal › Article
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Mark
Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration
(
- Contribution to journal › Article
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Mark
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin
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- Contribution to journal › Article
- 2017
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Mark
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease
(
- Contribution to journal › Article
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Mark
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation
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- Contribution to journal › Article
- 2016
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Mark
Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers
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- Contribution to journal › Article
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Mark
Analysis with the exome array identifies multiple new independent variants in lipid loci
(
- Contribution to journal › Article
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Mark
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
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- Contribution to journal › Article
- 2015
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
(
- Contribution to journal › Article
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Mark
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
(
- Contribution to journal › Article
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Mark
Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.
(
- Contribution to journal › Article
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Mark
Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.
(
- Contribution to journal › Article
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Mark
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
(
- Contribution to journal › Article
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Mark
Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood.
(
- Contribution to journal › Article
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Mark
Gene×dietary pattern interactions in obesity: analysis of up to 68,317 adults of European ancestry.
(
- Contribution to journal › Article
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Mark
Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus
(
- Contribution to journal › Article
- 2014
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Mark
Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
(
- Contribution to journal › Article
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Mark
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
(
- Contribution to journal › Article
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Mark
Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1α
(
- Contribution to journal › Article
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Mark
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations
(
- Contribution to journal › Article
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Mark
Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
(
- Contribution to journal › Article
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Mark
TCF7L2 is a master regulator of insulin production and processing.
(
- Contribution to journal › Article
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Mark
FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.
(
- Contribution to journal › Article
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Mark
Integrative Genome and Transcriptome Analyses Reveal Two Distinct Types of Ring Chromosome in Soft Tissue Sarcomas.
(
- Contribution to journal › Article
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Mark
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies.
(
- Contribution to journal › Article
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Mark
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
(
- Contribution to journal › Article
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Mark
Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin
(
- Contribution to journal › Article
- 2013
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Mark
Deciphering the 8q24.21 association for glioma
(
- Contribution to journal › Article
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Mark
Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.
(
- Contribution to journal › Article
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Mark
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish
(
- Contribution to journal › Article
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Mark
Role of WT1-ZNF224 interaction in the expression of apoptosis-regulating genes
(
- Contribution to journal › Article
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Mark
Loci influencing blood pressure identified using a cardiovascular gene-centric array
(
- Contribution to journal › Article
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Mark
Hypothalamic expression of mutant huntingtin contributes to the development of depressive-like behavior in the BAC transgenic mouse model of Huntingtons disease
(
- Contribution to journal › Article
- 2012
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Mark
Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice
(
- Contribution to journal › Article
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Mark
Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system
(
- Contribution to journal › Article
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Mark
alpha-Synuclein expression and Nrf2 deficiency cooperate to aggravate protein aggregation, neuronal death and inflammation in early-stage Parkinson's disease
(
- Contribution to journal › Article
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Mark
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations
(
- Contribution to journal › Article
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Mark
Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.
(
- Contribution to journal › Article
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Mark
Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.
(
- Contribution to journal › Article
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Mark
Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytes
(
- Contribution to journal › Article
- 2011
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Mark
High-resolution mapping of a complex disease, a model for rheumatoid arthritis, using heterogeneous stock mice
(
- Contribution to journal › Article
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Mark
Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease
(
- Contribution to journal › Article
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Mark
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa
(
- Contribution to journal › Article
-
Mark
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
(
- Contribution to journal › Article
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Mark
Autophagy is increased in laminin {alpha}2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.
(
- Contribution to journal › Article
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Mark
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
(
- Contribution to journal › Article
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Mark
Proteasome Inhibition Improves the Muscle of Laminin {alpha}2 Chain Deficient Mice.
(
- Contribution to journal › Article
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Mark
Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration
(
- Contribution to journal › Article
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Mark
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma
(
- Contribution to journal › Article
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Mark
Phenotype mining in CNV carriers from a population cohort
(
- Contribution to journal › Article
- 2010
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Mark
The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias
(
- Contribution to journal › Article
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Mark
Integrative genomics identifies DSCR1 (RCAN1) as a novel NFAT-dependent mediator of phenotypic modulation in vascular smooth muscle cells
(
- Contribution to journal › Article
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Mark
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses
(
- Contribution to journal › Article
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Mark
A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons
(
- Contribution to journal › Article
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Mark
A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among
(
- Contribution to journal › Article
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Mark
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes
(
- Contribution to journal › Article
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Mark
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.
(
- Contribution to journal › Article
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Mark
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
(
- Contribution to journal › Article
- 2009
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Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects
(
- Contribution to journal › Article
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Mark
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver
(
- Contribution to journal › Article
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Mark
Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs
(
- Contribution to journal › Article
-
Mark
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype
(
- Contribution to journal › Article
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Mark
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
(
- Contribution to journal › Article
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Mark
Tissue-specific alternative splicing of TCF7L2
(
- Contribution to journal › Article
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Mark
Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.
(
- Contribution to journal › Article
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Mark
The DNA methylome of pediatric acute lymphoblastic leukemia.
(
- Contribution to journal › Article
- 2008
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Mark
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
(
- Contribution to journal › Article
-
Mark
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus
(
- Contribution to journal › Article
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Mark
Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males
(
- Contribution to journal › Article
-
Mark
Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure
(
- Contribution to journal › Article
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Mark
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis
(
- Contribution to journal › Article
- 2007
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Mark
Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3
(
- Contribution to journal › Article
-
Mark
COG8 deficiency causes new congenital disorder of glycosylation type IIh
(
- Contribution to journal › Article
-
Mark
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
(
- Contribution to journal › Article
- 2006
-
Mark
Cholinergic neuronal defect without cell loss in Huntington's disease.
(
- Contribution to journal › Article
-
Mark
Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease
(
- Contribution to journal › Article
-
Mark
MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene
(
- Contribution to journal › Article
-
Mark
Laminin {alpha}1 chain improves laminin {alpha}2 chain deficient peripheral neuropathy.
(
- Contribution to journal › Article
- 2005
-
Mark
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
(
- Contribution to journal › Article
-
Mark
The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient {beta}-cell mass and exocytosis.
(
- Contribution to journal › Article
-
Mark
Orexin loss in Huntington's disease.
(
- Contribution to journal › Article
-
Mark
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
(
- Contribution to journal › Article
-
Mark
Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22
(
- Contribution to journal › Article
- 2004
-
Mark
Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3.
(
- Contribution to journal › Article
-
Mark
Identification of a commonly amplified 4.3 Mb region with overexpression of the C8FW gene, encoding a phosphoprotein regulated by mitogenic pathways, but not of the MYC gene in MYC-containing double minutes in myeloid malignancies.
(
- Contribution to journal › Article
-
Mark
Laminin {alpha}1 chain reduces muscular dystrophy in laminin {alpha}2 chain deficient mice.
(
- Contribution to journal › Article
- 2003
-
Mark
A genome wide scan for early onset primary hypertension in Scandinavians.
(
- Contribution to journal › Article
-
Mark
High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes
(
- Contribution to journal › Article