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Muddassar Iqbal, Niaz Muhammad, Sheikh A Ali, Svetlana Kostjukovits, Outi Mäkitie, Sadaf Naz
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
Mehdi Pirouz, Peng Du, Marzia Munafò, Richard I Gregory
Mutations in the 3'-5' exonuclease DIS3L2 are associated with Perlman syndrome and hypersusceptibility to Wilms tumorigenesis. Previously, we found that Dis3l2 specifically recognizes and degrades uridylated pre-let-7 microRNA. However, the widespread relevance of Dis3l2-mediated decay of uridylated substrates remains unknown. Here, we applied an unbiased RNA immunoprecipitation strategy to identify Dis3l2 targets in mouse embryonic stem cells. The disease-associated long noncoding RNA (lncRNA) Rmrp, 7SL, as well as several other Pol III-transcribed noncoding RNAs (ncRNAs) were among the most highly enriched Dis3l2-bound RNAs...
August 16, 2016: Cell Reports
Siham Chafai Elalaoui, Fatima Zahra Laarabi, Maria Mansouri, Nidal Alaoui Mrani, Gen Nishimura, Abdelaziz Sefiani
Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly...
September 2016: American Journal of Medical Genetics. Part A
Simona Greco, Germana Zaccagnini, Alessandra Perfetti, Paola Fuschi, Rea Valaperta, Christine Voellenkle, Serenella Castelvecchio, Carlo Gaetano, Nicoletta Finato, Antonio Paolo Beltrami, Lorenzo Menicanti, Fabio Martelli
BACKGROUND: Long noncoding RNAs (lncRNAs) are non-protein coding transcripts regulating a variety of physiological and pathological functions. However, their implication in heart failure is still largely unknown. The aim of this study is to identify and characterize lncRNAs deregulated in patients affected by ischemic heart failure. METHODS: LncRNAs were profiled and validated in left ventricle biopsies of 18 patients affected by non end-stage dilated ischemic cardiomyopathy and 17 matched controls...
2016: Journal of Translational Medicine
Ji Heon Noh, Kyoung Mi Kim, Kotb Abdelmohsen, Je-Hyun Yoon, Amaresh C Panda, Rachel Munk, Jiyoung Kim, Jessica Curtis, Christopher A Moad, Christina M Wohler, Fred E Indig, Wilson de Paula, Dawood B Dudekula, Supriyo De, Yulan Piao, Xiaoling Yang, Jennifer L Martindale, Rafael de Cabo, Myriam Gorospe
Some mitochondrial long noncoding RNAs (lncRNAs) are encoded by nuclear DNA, but the mechanisms that mediate their transport to mitochondria are poorly characterized. Using affinity RNA pull-down followed by mass spectrometry analysis, we found two RNA-binding proteins (RBPs), HuR (human antigen R) and GRSF1 (G-rich RNA sequence-binding factor 1), that associated with the nuclear DNA-encoded lncRNA RMRP and mobilized it to mitochondria. In cultured human cells, HuR bound RMRP in the nucleus and mediated its CRM1 (chromosome region maintenance 1)-dependent export to the cytosol...
May 15, 2016: Genes & Development
Yongfu Shao, Meng Ye, Qier Li, Weiliang Sun, Guoliang Ye, Xinjun Zhang, Yunben Yang, Bingxiu Xiao, Junming Guo
Long noncoding RNAs (lncRNAs) play crucial roles in tumorigenesis. However, the mechanisms of most lncRNAs in cancers are largely unknown. Because the RNA component of mitochondrial RNA processing endoribonuclease (RMRP) is one of the dysregulated lncRNAs in gastric cancer, this study explored its molecular mechanisms in carcinogenesis. RMRP levels in 792 tissues, plasma and gastric juices from patients with various stages of gastric tumorigenesis were analyzed by quantitative reverse transcription-polymerase chain reaction...
May 12, 2016: Oncotarget
Wendy Huang, Dan R Littman
T-helper 17 (Th17) cells differentiate from naïve CD4(+) T cells in response to signals from commensal microbiota and produce cytokines critical for the integrity of mucosal barriers. These cells also disseminate throughout the body, and are key participants in numerous inflammatory processes. A key challenge is to elucidate the mechanisms that govern Th17 cell beneficial versus pathogenic functions, characterized by different cytokine profiles. Mucosal Th17 cells require the nuclear hormone receptor RORγt for their differentiation in draining lymph nodes...
2015: Cold Spring Harbor Symposia on Quantitative Biology
Dhanya Lakshmi Narayanan, Anju Shukla, Anju Rani Siddesh, Joshi Stephen, Priyanka Srivastava, Kausik Mandal, Shubha R Phadke
Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India showed novel mutations in RMRP gene. The authors report two unrelated cases with the more common g.70A > G mutation, stressing the need to screen for this mutation in Indian population having features of cartilage-hair hypoplasia...
September 2016: Indian Journal of Pediatrics
Wendy Huang, Benjamin Thomas, Ryan A Flynn, Samuel J Gavzy, Lin Wu, Sangwon V Kim, Jason A Hall, Emily R Miraldi, Charles P Ng, Frank Rigo, Sarah Meadows, Nina R Montoya, Natalia G Herrera, Ana I Domingos, Fraydoon Rastinejad, Richard M Myers, Frances V Fuller-Pace, Richard Bonneau, Howard Y Chang, Oreste Acuto, Dan R Littman
No abstract text is available yet for this article.
May 5, 2016: Nature
Wendy Huang, Benjamin Thomas, Ryan A Flynn, Samuel J Gavzy, Lin Wu, Sangwon V Kim, Jason A Hall, Emily R Miraldi, Charles P Ng, Frank Rigo, Frank W Rigo, Sarah Meadows, Nina R Montoya, Natalia G Herrera, Ana I Domingos, Fraydoon Rastinejad, Richard M Myers, Frances V Fuller-Pace, Richard Bonneau, Howard Y Chang, Oreste Acuto, Dan R Littman
T helper 17 (TH17) lymphocytes protect mucosal barriers from infections, but also contribute to multiple chronic inflammatory diseases. Their differentiation is controlled by RORγt, a ligand-regulated nuclear receptor. Here we identify the RNA helicase DEAD-box protein 5 (DDX5) as a RORγt partner that coordinates transcription of selective TH17 genes, and is required for TH17-mediated inflammatory pathologies. Surprisingly, the ability of DDX5 to interact with RORγt and coactivate its targets depends on intrinsic RNA helicase activity and binding of a conserved nuclear long noncoding RNA (lncRNA), Rmrp, which is mutated in patients with cartilage-hair hypoplasia...
December 24, 2015: Nature
Jinjoo Park, Sunjoo Jeong
RMRP, the RNA component of mitochondrial RNA processing endoribonuclease, is a non-coding RNA (ncRNA) part of the RNase MRP complex functioning in mitochondrial and ribosomal RNA processing. Even though various mutations in the RMRP gene are linked to developmental defects and pathogenesis, its relevance to cancer etiology has not been well established. Here we examined the expression of RMRP and found a significant increase in colorectal and breast cancer patient tissues. So we tested whether the oncogenic signaling pathways, Wnt/β-catenin and Hippo/YAP pathways, are relevant to the enhanced expression of RMRP in cancer cells because of the predicted β-catenin/TCF and YAP/TBX5 elements in the upstream regions of the RMRP gene...
October 27, 2015: Oncotarget
Imane Cherkaoui Jaouad, Fatima Z Laarabi, Siham Chafai Elalaoui, Stanislas Lyonnet, Alexandra Henrion-Caude, Abdelaziz Sefiani
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by mutations in RMRP, which is transcribed as an RNA component of the mitochondrial RNA-processing ribonuclease. We report the clinical and molecular data of a Moroccan patient with CHH. Sequencing of RMRP identified 2 mutations in the patient: the known mutation g...
July 2015: Molecular Syndromology
Toshitsugu Fujita, Miyuki Yuno, Daisuke Okuzaki, Rieko Ohki, Hodaka Fujii
Accumulating evidence suggests that RNAs interacting with genomic regions play important roles in the regulation of genome functions, including X chromosome inactivation and gene expression. However, to our knowledge, no non-biased methods of identifying RNAs that interact with a specific genomic region have been reported. Here, we used enChIP-RNA-Seq, a combination of engineered DNA-binding molecule-mediated chromatin immunoprecipitation (enChIP) and RNA sequencing (RNA-Seq), to perform a non-biased search for RNAs interacting with telomeres...
2015: PloS One
Ulrike Dapunt, Thomas Giese, Susanne Maurer, Sabine Stegmaier, Birgit Prior, G Maria Hänsch, Matthias M Gaida
Bone infections of patients with joint replacement by endoprosthesis (so called "periprosthetic joint infection") pose a severe problem in the field of orthopedic surgery. The diagnosis is often difficult, and treatment is, in most cases, complicated and prolonged. Patients often require an implant exchange surgery, as the persistent infection and the accompanying inflammation lead to tissue damage with bone degradation and consequently, to a loosening of the implant. To gain insight into the local inflammatory process, expression of the proinflammatory cytokine MRP-14, a major content of neutrophils, and its link to subsequent bone degradation was evaluated...
October 2015: Journal of Leukocyte Biology
Patrick Riley, Dennis S Weiner, Bonnie Leighley, David Jonah, D Holmes Morton, Kevin A Strauss, Michael B Bober, Martin S Dicintio
PURPOSE: Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Immunodeficiency is of concern in most cases. Although patients exhibit orthopaedic problems, the orthopaedic literature on CHH patients is scant at best...
April 2015: Journal of Children's Orthopaedics
Winnie Ip, H Bobby Gaspar, Robert Kleta, Estelle Chanudet, Chiara Bacchelli, Alison Pitts, Zohreh Nademi, E Graham Davies, Mary A Slatter, Persis Amrolia, Kanchan Rao, Paul Veys, Andrew R Gennery, Waseem Qasim
PURPOSE: Mutations in RMRP primarily give rise to Cartilage Hair Hypoplasia (CHH), a highly diverse skeletal disorder which can be associated with severe immunodeficiency. Increased availability of RMRP mutation screening has uncovered a number of infants with significant immunodeficiency but only mild or absent skeletal features. We surveyed the clinical and immunological phenotype of children who have undergone allogeneic haematopoietic stem cell transplantation for this condition in the UK...
February 2015: Journal of Clinical Immunology
Monika Obara-Moszynska, Weronika Wielanowska, Aleksandra Rojek, Danuta Wolnik-Brzozowska, Marek Niedziela
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder characterized by short stature, hypoplastic hair and humoral immunity disorders. It is a mutation in the RMRP gene, located on chromosome 9p13.3, that leads to CHH. There is no special treatment for short stature in CHH. The efficacy and safety of recombinant human growth hormone (rhGH) therapy in CHH is still under discussion. The present study describes the case of a girl with CHH who was treated with rhGH. The rhGH treatment had a significant effect on the height gain: the height SD score was changed from -4...
December 2013: Pediatrics International: Official Journal of the Japan Pediatric Society
Liza J McCann, Jo McPartland, Dawn Barge, Lisa Strain, David Bourn, Eduardo Calonje, Julian Verbov, Andrew Riordan, George Kokai, Chris M Bacon, Michael Wright, Mario Abinun
We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT...
January 2014: Journal of Clinical Immunology
Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira, Paul Frenette, Jayanta Roy-Chowdhury, Charles E Rogler
Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they are a source of miRNAs. We show that the 268-nt non-coding RNA component of mitochondrial RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated RMRP-S1 and RMRP-S2, which function as miRNAs. Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. SHAPE chemical probing identified two alternative secondary structures altered by disease mutations...
January 15, 2014: Human Molecular Genetics
Marie Crahes, Pascale Saugier-Veber, Sophie Patrier, Moutaz Aziz, Nathalie Pirot, Marie Brasseur-Daudruy, Valérie Layet, Thierry Frébourg, Annie Laquerrière
Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies...
July 2013: European Journal of Medical Genetics
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