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

De novo 13q31.1-q32.1 interstitial deletion encompassing themiR-17-92cluster in a patient with Feingold syndrome-2

(2013) E. Tassano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DICER1 hotspot mutations in non-epithelial gonadal tumours

(2013) L Witkowski et al.   BRITISH JOURNAL OF CANCER

Circulating p53-Responsive MicroRNAs Are Predictive Indicators of Heart Failure After Acute Myocardial Infarction

(2013) Sen Matsumoto et al.   CIRCULATION RESEARCH

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

(2013) N. Wang et al.   GENETICS AND MOLECULAR RESEARCH

IRGM Variants and Susceptibility to Inflammatory Bowel Disease in the German Population

(2013) Jürgen Glas et al.   PLoS One

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

(2013) Zev Williams et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Saiqa Yasmeen et al.   PSYCHIATRIC GENETICS

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3

(2012) Wenbo Xu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Circulating MicroRNAs

(2012) Esther E. Creemers et al.   CIRCULATION RESEARCH

GermlineDICER1mutation and associated loss of heterozygosity in a pineoblastoma: Figure 1

(2012) Nelly Sabbaghian et al.   JOURNAL OF MEDICAL GENETICS

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

(2012) Yu Xiang et al.   MOLECULAR BIOLOGY REPORTS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012) Y. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract

(2011) Anne E. Hughes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) M. Mian et al.   ANNALS OF ONCOLOGY

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

(2011) M. S. Kumar et al.   BLOOD

miRNeye: a microRNA expression atlas of the mouse eye

(2011) Marianthi Karali et al.   BMC GENOMICS

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

(2011) Giulia Soldà et al.   HUMAN MOLECULAR GENETICS

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

(2011) I. Slade et al.   JOURNAL OF MEDICAL GENETICS

MicroRNA-9 Regulates Neurogenesis in Mouse Telencephalon by Targeting Multiple Transcription Factors

(2011) M. Shibata et al.   JOURNAL OF NEUROSCIENCE

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

(2011) Patrick Brest et al.   NATURE GENETICS

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

(2011) Loïc de Pontual et al.   NATURE GENETICS

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

(2011) Rikako Sanuki et al.   NATURE NEUROSCIENCE

Non-coding RNAs in human disease

(2011) Manel Esteller   NATURE REVIEWS GENETICS

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

(2011) Claude M Schofield et al.   Neural Development

Recurrent SomaticDICER1Mutations in Nonepithelial Ovarian Cancers

(2011) Alireza Heravi-Moussavi et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) K. Fenelon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Terry S. Elton et al.   RNA Biology

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

(2010) Zhensheng Liu et al.   CANCER

A Genetic Defect in Exportin-5 Traps Precursor MicroRNAs in the Nucleus of Cancer Cells

(2010) Sonia A. Melo et al.   CANCER CELL

The DLEU2/miR-15a/16-1 Cluster Controls B Cell Proliferation and Its Deletion Leads to Chronic Lymphocytic Leukemia

(2010) Ulf Klein et al.   CANCER CELL

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

(2010) Delphine Simon et al.   HUMAN MOLECULAR GENETICS

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

(2010) Natalie J. Prescott et al.   HUMAN MOLECULAR GENETICS

MicroRNA-183 Family Members Regulate Sensorineural Fates in the Inner Ear

(2010) H. Li et al.   JOURNAL OF NEUROSCIENCE

Posttranscriptional Regulation of MicroRNA Biogenesis in Animals

(2010) Haruhiko Siomi et al.   MOLECULAR CELL

MicroRNA Expression in Human Airway Smooth Muscle Cells

(2009) Andrew R. Kuhn et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

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

(2009) Shigeru Miyaki et al.   ARTHRITIS AND RHEUMATISM

Monoallelic but not biallelic loss of Dicer1 promotes tumorigenesis in vivo

(2009) I Lambertz et al.   CELL DEATH AND DIFFERENTIATION

Dicer1 functions as a haploinsufficient tumor suppressor

(2009) M. S. Kumar et al.   GENES & DEVELOPMENT

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

(2009) R Tabarés-Seisdedos et al.   MOLECULAR PSYCHIATRY

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

(2009) Ángeles Mencía et al.   NATURE GENETICS

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

(2009) Sonia A Melo et al.   NATURE GENETICS

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

(2009) Morag A Lewis et al.   NATURE GENETICS

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

(2009) Daniel T Starczynowski et al.   NATURE MEDICINE

DICER1 Mutations in Familial Pleuropulmonary Blastoma

(2009) D. A. Hill et al.   SCIENCE

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

(2008) L. Wang et al.   HAEMATOLOGICA

Genotype-phenotype correlations in MYCN-related Feingold syndrome

(2008) Carlo L.M. Marcelis et al.   HUMAN MUTATION

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

(2008) Zhibin Hu et al.   HUMAN MUTATION

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

(2008) Benjamin L. Ebert et al.   NATURE

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

(2008) Johan Skog et al.   NATURE CELL BIOLOGY

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

(2008) Sheila A Fisher et al.   NATURE GENETICS

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

(2008) Kimberly L Stark et al.   NATURE GENETICS

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

(2008) Steven A McCarroll et al.   NATURE GENETICS

Circulating microRNAs as stable blood-based markers for cancer detection

(2008) P. S. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MicroRNA target site polymorphisms and human disease

(2008) Praveen Sethupathy et al.   TRENDS IN GENETICS