Human molecular genetics

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Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis. 2019
Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. 2024
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.. 32. 2023
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele. 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. 2023
Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.. 32. 2023
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.. 31. 2022
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.. 31. 2022
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2. 2021
First mitochondrial genome wide association study with metabolomics. 2021
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.. 30. 2021
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.. 29. 2020
Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.. 29. 2020
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar.. 28. 2019
Defining the genetic control of human blood plasma N-glycome using genome-wide association study.. 28. 2019
Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis.. 28. 2019
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.. 28. 2019
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.. 28. 2019
Dominant negative GPR161 rare variants are risk factors of human spina bifida.. 28. 2019
Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.. 27. 2018
Benfotiamine treatment activates the Nrf2/ARE pathway and is neuroprotective in a transgenic mouse model of tauopathy.. 27. 2018
Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.. 27. 2018
A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.. 27. 2018
Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation.. 27. 2018
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.. 27. 2018
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.. 26. 2017
Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.. 26. 2017
Sex specific activation of the ERα axis of the mitochondrial UPR (UPRmt) in the G93A-SOD1 mouse model of familial ALS.. 26. 2017
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.. 26. 2017
Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior.. 25. 2016
Functional characterization of a chr13q22.1 pancreatic cancer risk locus reveals long-range interaction and allele-specific effects on DIS3 expression.. 25. 2016
Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes.. 25. 2016
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.. 24. 2015
Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.. 24. 2015
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.. 24. 2015
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.. 24. 2015
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.. 24. 2014
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.. 23. 2014
Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses.. 23. 2014
The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.. 23. 2014
Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM.. 23. 2014
Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy.. 23. 2014
c-Abl phosphorylates α-synuclein and regulates its degradation: implication for α-synuclein clearance and contribution to the pathogenesis of Parkinson's disease.. 23. 2014
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.. 23. 2013
Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models.. 23. 2013
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.. 23. 2013
Epigenetics meets metabolomics: an epigenome-wide association study with blood serum metabolic traits.. 23. 2013
Cigarette smoking induces small airway epithelial epigenetic changes with corresponding modulation of gene expression.. 22. 2013
LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure.. 22. 2013
A role of mitochondrial complex II defects in genetic models of Huntington's disease expressing N-terminal fragments of mutant huntingtin.. 22. 2013
Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice.. 22. 2013
Individual common variants exert weak effects on the risk for autism spectrum disorders.. 21. 2012
Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.. 21. 2012
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.. 21. 2012
Genetic associations with lipoprotein subfractions provide information on their biological nature.. 21. 2011
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.. 20. 2011
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.. 20. 2011
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.. 20. 2011
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.. 20. 2011
Functional interactions between the LRP6 WNT co-receptor and folate supplementation.. 19. 2010
Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study.. 19. 2010
Refining the association of MHC with multiple sclerosis in African Americans.. 19. 2010
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.. 19. 2010
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.. 19. 2009
Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.. 19. 2009
Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities.. 18. 2009
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.. 18. 2009
Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.. 18. 2009
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.. 18. 2009
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.. 18. 2008
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.. 18. 2008
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.. 18. 2008
Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria.. 17. 2008
Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease.. 17. 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.. 17. 2008
The molecular basis of Pallister Hall associated polydactyly.. 16. 2007
Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice.. 15. 2006
Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids.. 15. 2006
A mouse model for Glut-1 haploinsufficiency.. 15. 2006
Identification of multiple nuclear export sequences in Fanconi anemia group A protein that contribute to CRM1-dependent nuclear export.. 14. 2005
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.. 14. 2005
Heterologous mitochondrial DNA recombination in human cells.. 13. 2004
Defective recombination in infertile men.. 13. 2004
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.. 13. 2004
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.. 13. 2004
Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres.. 12. 2003
Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site.. 12. 2003
Mutations of the GREAT gene cause cryptorchidism.. 11. 2002
High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain.. 11. 2002
Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration.. 10. 2001
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.. 10. 2001
Crooked tail (Cd) models human folate-responsive neural tube defects.. 8. 1999
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).. 8. 1999
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.. 7. 1998
A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.. 7. 1998
Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung.. 6. 1997
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.. 6. 1997
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.. 6. 1997
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.. 5. 1996
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.. 5. 1996
A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues.. 4. 1995
Genetics of human metabolism: an update. 2015
Where cancer genomics should go next: a clinician's perspective. 2014

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Human molecular genetics Journal

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