(Q38170524)

30 August 2017

title

Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes (English)

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30 August 2017

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Yukio Kawahara

1

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30 August 2017

publication date

1 February 2014

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30 August 2017

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30 August 2017

volume

54

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30 August 2017

issue

1

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30 August 2017

page(s)

12-21

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Sequence variants in SLITRK1 are associated with Tourette's syndrome

30 August 2017

cites work

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An integrated encyclopedia of DNA elements in the human genome

21 January 2018

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A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease

21 January 2018

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Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia

21 January 2018

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A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia

21 January 2018

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Feingold syndrome: clinical review and genetic mapping

21 January 2018

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X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

21 January 2018

1 reference

Circulating microRNAs: novel biomarkers and extracellular communicators in cardiovascular disease?

21 January 2018

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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

21 January 2018

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Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome

21 January 2018

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Genomic aberrations and survival in chronic lymphocytic leukemia

21 January 2018

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Loss of heterozygosity at 13q14 and 13q21 in high grade, high stage prostate cancer

21 January 2018

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Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

21 January 2018

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

21 January 2018

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Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins

21 January 2018

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Non-coding RNAs in human disease

21 January 2018

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Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex

21 January 2018

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Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

21 January 2018

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Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies

21 January 2018

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IRGM variants and susceptibility to inflammatory bowel disease in the German population

21 January 2018

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Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

21 January 2018

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DICER1 mutations in familial pleuropulmonary blastoma

21 January 2018

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Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women

21 January 2018

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Mutation altering the miR-184 seed region causes familial keratoconus with cataract

21 January 2018

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A single-base substitution in the seed region of miR-184 causes EDICT syndrome

21 January 2018

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miRNeye: a microRNA expression atlas of the mouse eye.

21 January 2018

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TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

21 January 2018

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Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses

21 January 2018

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The DLEU2/miR-15a/16-1 cluster controls B cell proliferation and its deletion leads to chronic lymphocytic leukemia

21 January 2018

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Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

21 January 2018

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MicroRNA expression in human airway smooth muscle cells: role of miR-25 in regulation of airway smooth muscle phenotype

21 January 2018

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Dicer1 functions as a haploinsufficient tumor suppressor

21 January 2018

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Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome

21 January 2018

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Monoallelic but not biallelic loss of Dicer1 promotes tumorigenesis in vivo

21 January 2018

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Mutational analysis of MIR184 in sporadic keratoconus and myopia.

21 January 2018

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An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

21 January 2018

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MicroRNA-183 family members regulate sensorineural fates in the inner ear.

21 January 2018

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Microarray analysis shows that some microRNAs downregulate large numbers of target mRNAs

21 January 2018

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Genetic variants in selected pre-microRNA genes and the risk of squamous cell carcinoma of the head and neck

21 January 2018

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Genotype-phenotype correlations in MYCN-related Feingold syndrome

21 January 2018

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Circulating p53-responsive microRNAs are predictive indicators of heart failure after acute myocardial infarction

21 January 2018

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Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

21 January 2018

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A genetic defect in exportin-5 traps precursor microRNAs in the nucleus of cancer cells

21 January 2018

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RETRACTED: A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function

21 January 2018

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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

21 January 2018

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Clinical and molecular characterization of diffuse large B-cell lymphomas with 13q14.3 deletion.

21 January 2018

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Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia

21 January 2018

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Circulating microRNAs as stable blood-based markers for cancer detection

21 January 2018

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MicroRNA-140 is expressed in differentiated human articular chondrocytes and modulates interleukin-1 responses

21 January 2018

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Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

21 January 2018

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Abnormal microRNA-16 locus with synteny to human 13q14 linked to CLL in NZB mice

21 January 2018

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Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma

21 January 2018

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miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression

21 January 2018

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Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex

21 January 2018

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A brain-specific microRNA regulates dendritic spine development

21 January 2018

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MicroRNA target site polymorphisms and human disease

21 January 2018

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MicroRNA-9 regulates neurogenesis in mouse telencephalon by targeting multiple transcription factors

21 January 2018

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A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

21 January 2018

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Posttranscriptional regulation of microRNA biogenesis in animals

21 January 2018

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Glioblastoma microvesicles transport RNA and proteins that promote tumour growth and provide diagnostic biomarkers

21 January 2018

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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

21 January 2018

1 reference

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

21 January 2018

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Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype

21 January 2018

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Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

21 January 2018

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Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

21 January 2018

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Extensive post-transcriptional regulation of microRNAs and its implications for cancer

21 January 2018

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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

21 January 2018

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An A/G polymorphism rs3746444 in miR-499 is associated with increased cancer risk: a meta-analysis

21 January 2018

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DGCR8 is essential for microRNA biogenesis and silencing of embryonic stem cell self-renewal

21 January 2018

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Comprehensive profiling of circulating microRNA via small RNA sequencing of cDNA libraries reveals biomarker potential and limitations

21 January 2018

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DICER1 hotspot mutations in non-epithelial gonadal tumours

21 January 2018

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Association of the microRNA-499 variants with susceptibility to hepatocellular carcinoma in a Chinese population.

21 January 2018

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Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.

21 January 2018

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Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis

21 January 2018

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Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGA.12043

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30 August 2017

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