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Xianbo Liu, Xiangjin Wei, Zhonghua Sheng, Guiai Jiao, Shaoqing Tang, Ju Luo, Peisong Hu
Polycomb group (PcG) proteins have been shown to affect growth and development in plants. To further elucidate their role in these processes in rice, we isolated and characterized a rice mutant which exhibits dwarfism, reduced seed setting rate, defective floral organ, and small grains. Map-based cloning revealed that abnormal phenotypes were attributed to a mutation of the Fertilization Independent Endosperm 2 (OsFIE2) protein, which belongs to the PcG protein family. So we named the mutant as osfie2-1. Histological analysis revealed that the number of longitudinal cells in the internodes decreased in osfie2-1, and that lateral cell layer of the internodes was markedly thinner than wild-type...
2016: PloS One
Bin Cai, Xiangxiong Kong, Chao Zhong, Suli Sun, Xiao Feng Zhou, Yin Hua Jin, Youning Wang, Xia Li, Zhendong Zhu, Jing Bo Jin
SIZ1 is a small ubiquitin-related modifier (SUMO) E3 ligase that mediates post-translational SUMO modification of target proteins and thereby regulates developmental processes and hormonal and environmental stress responses in Arabidopsis. However, the role of SUMO E3 ligases in crop plants is largely unknown. Here, we identified and characterized two Glycine max (soybean) SUMO E3 ligases, GmSIZ1a and GmSIZ1b. Expression of GmSIZ1a and GmSIZ1b was induced in response to salicylic acid (SA), heat, and dehydration treatment, but not in response to cold, ABA, and NaCl treatment...
October 20, 2016: Journal of Integrative Plant Biology
Wei Li, Lorenzo Katin-Grazzini, Sanalkumar Krishnan, Chandra Thammina, Rania El-Tanbouly, Huseyin Yer, Emily Merewitz, Karl Guillard, John Inguagiato, Richard J McAvoy, Zongrang Liu, Yi Li
When subjected to shade, plants undergo rapid shoot elongation, which often makes them more prone to disease and mechanical damage. Shade-tolerant plants can be difficult to breed; however, they offer a substantial benefit over other varieties in low-light areas. Although perennial ryegrass (Lolium perenne L.) is a popular species of turf grasses because of their good appearance and fast establishment, the plant normally does not perform well under shade conditions. It has been reported that, in turfgrass, induced dwarfism can enhance shade tolerance...
2016: Frontiers in Plant Science
Nete Kodahl, Renate Müller, Henrik Lütken
Plant transformation with the wild type Ri plasmid T-DNA of Agrobacterium rhizogenes is a promising method for breeding of compact plants and has been the subject of numerous studies. However, knowledge concerning the isolated functions of single genes and ORFs from the plasmid is limited. The rolB and ORF13 oncogenes of A. rhizogenes show considerable promise in plant breeding, but have not been comprehensively studied. Detailed information regarding the morphological impact of specific genes of the Ri plasmid will allow for optimized targeted breeding of plants transformed with the wild type Ri plasmid T-DNA...
November 2016: Plant Science: An International Journal of Experimental Plant Biology
Li Zhang, Shudai Lin, Lilong An, Jinge Ma, Fengfang Qiu, Rumin Jia, Qinghua Nie, Dexiang Zhang, Qingbin Luo, Ting Li, Zhang Wang, Xiquan Zhang
Growth hormone receptor (GHR) played key roles in human and animal growth. Both human laron type dwarfism and sex linked dwarf chicken were caused by the mutation of GHR gene. In this study, we identified an endogenously expressed long non-coding natural antisense transcript, GHR-AS, which overlapped with the GHR mRNA (GHR-S) in a tail to tail manner. Spatial and temporal expression analyses indicated that GHR-AS were highly expressed in chicken liver and displayed ascending with the development of chicken from E10 to 3 w of age...
October 4, 2016: Oncotarget
R Elsoueidi, C Gresham, L Michael, D Chaney, H Mourad
WHAT IS KNOWN AND OBJECTIVE: CASE DESCRIPTION: A 74-year-old female with achondroplastic dwarfism was diagnosed with ER-, BR- and HER2- breast cancer. No guideline currently exists to direct chemotherapy dosing in this population. She received neoadjuvant chemotherapy based on body surface area utilizing actual height and weight with dose-dense doxorubicin and cyclophosphamide followed by paclitaxel with the use of granulocyte colony-stimulating factor. Satisfactory clinical response and remission were achieved, and treatment proceeded without any significant toxicity or delays...
October 6, 2016: Journal of Clinical Pharmacy and Therapeutics
Alaa El-Din Hamid Sayed, Hiroshi Mitani
In the present work, the destructive effects of ultraviolet A (UVA; 366nm) irradiation on the developmental stages of Japanese medaka (Oryzias latipes) are revealed in terms of hatching success, mortality rate, and morphological malformations (yolk sac edema, body curvature, fin blistering, and dwarfism). Fertilized eggs in stage 4 were exposed to 15, 30, and 60min/day UVA for 3days in replicates. Fish were staged and aged following the stages established by Iwamatsu [1]. We observed and recorded the hatching time and deformed and dead embryos continuously...
September 19, 2016: Journal of Photochemistry and Photobiology. B, Biology
Osman Güvenç, Saime Sündüs Uygun, Derya Çimen, Eyüp Aslan, Ali Annagür
Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report...
September 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
J-S He, C-W Lian, H-W Zhou, X-F Lin, H-C Yang, X-L Ye, S-B Zhu
OBJECTIVE: Growth hormone deficiency (GHD) is the most common cause for childhood dwarfism. Currently, the significance of insulin-like growth factor-1 (IGF-1) in diagnosis of GHD is still debatable. Due to the possible correlation between leptin (LEP) and GHD pathogenesis, this study investigated the gene polymorphism of LEP and its receptor (LEPR) genes, along with serum IGF-1 and LEP levels in GHD patients. This study attempted to illustrate the correlation between gene polymorphism and GHD pathogenesis...
September 2016: European Review for Medical and Pharmacological Sciences
S Lee, W Tan, D K Chan, H Tan
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Virginia Tartaglio, Emilie A Rennie, Rebecca Cahoon, George Wang, Edward Baidoo, Jennifer C Mortimer, Edgar B Cahoon, Henrik V Scheller
Sphingolipids are a major component of plant plasma membranes and endomembranes, and mediate a diverse range of biological processes. Study of the highly glycosylated glycosyl inositol phosphorylceramide (GIPC) sphingolipids, has been slow due to challenges associated with GIPCs' extractability, and their functions in the plant remain poorly characterized. We recently discovered an Arabidopsis GIPC glucuronosyltransferase, INOSITOL PHOSPHORYLCERAMIDE GLUCURONOSYLTRANSFERASE 1 (IPUT1), which is the first enzyme in the GIPC glycosylation pathway...
September 19, 2016: Plant Journal: for Cell and Molecular Biology
Joseph T Hefner, Michael W Warren
Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans. Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia. The literature available for differential diagnosis of the disorder relies primarily on the postcranial skeleton. In this paper, a possible case of achondroplasia is presented. The cranium presents a unique suite of cranial and craniofacial dysmorphologies...
September 16, 2016: Journal of Forensic Sciences
Mario Teo, Jeremiah N Johnson, Teresa E Bell-Stephens, Michael P Marks, Huy M Do, Robert L Dodd, Michael B Bober, Gary K Steinberg
OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly...
September 9, 2016: Journal of Neurosurgery. Pediatrics
Anne Bruun Krøigård, Morten Frost, Martin Jakob Larsen, Lilian Bomme Ousager, Anja Lisbeth Frederiksen
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the RNU4ATAC gene resulting in impaired function of the minor spliceosome. Here, we present the first report on bone morphology, bone density and bone microstructure in two adult MOPD1 patients and applied radiographs, dual energy X-ray absorptiometry, high-resolution peripheral quantitative computed tomography and biochemical evaluation...
November 2016: Bone
Carolin Schille, Michaela Bayerlová, Annalen Bleckmann, Alexandra Schambony
The receptor tyrosine kinase Ror2 is a major Wnt receptor that activates β-catenin-independent signaling and plays a conserved role in the regulation of convergent extension movements and planar cell polarity in vertebrates. Mutations in the ROR2 gene cause recessive Robinow syndrome in humans, a short-limbed dwarfism associated with craniofacial malformations. Here, we show that Ror2 is required for local upregulation of gdf6 at the neural plate border in Xenopus embryos. Ror2 morphant embryos fail to upregulate neural plate border genes and show defects in the induction of neural crest cell fate...
September 1, 2016: Development
Nicholas J Farber, Justin Dubin, Jaspreet Parihar, Chris Han, Michael S Lasser
We describe the case of a 50-year-old male with achondroplastic dwarfism who presents with a renal mass in his left kidney concerning for renal cell carcinoma. The patient successfully underwent a robotic partial nephrectomy, which revealed a T1a renal cell carcinoma. The tumor was excised successfully without any intraoperative complications demonstrating that a robotic partial nephrectomy is technically both safe and effective in patients with achondroplastic dwarfism.
August 2016: Canadian Journal of Urology
Manuel Bauer, Fabien Cubizolles, Alexander Schmidt, Erich A Nigg
Centrioles are essential for the formation of centrosomes and cilia. While numerical and/or structural centrosomes aberrations are implicated in cancer, mutations in centriolar and centrosomal proteins are genetically linked to ciliopathies, microcephaly, and dwarfism. The evolutionarily conserved mechanisms underlying centrosome biogenesis are centered on a set of key proteins, including Plk4, Sas-6, and STIL, whose exact levels are critical to ensure accurate reproduction of centrioles during cell cycle progression...
October 4, 2016: EMBO Journal
Yankun Wang, Wenjing Chen, Pu Chu, Shubei Wan, Mao Yang, Mingming Wang, Rongzhan Guan
BACKGROUND: Key genes related to plant type traits have played very important roles in the "green revolution" by increasing lodging resistance and elevating the harvest indices of crop cultivars. Although there have been numerous achievements in the development of dwarfism and plant type in Brassica napus breeding, exploring new materials conferring oilseed rape with efficient plant types that provide higher yields is still of significance in breeding, as well as in elucidating the mechanisms underlying plant development...
2016: BMC Plant Biology
Katarzyna Gawron
The endoplasmic reticulum is primarily recognized as the site of synthesis and folding of secreted, membrane-bound, and some organelle-targeted proteins. An imbalance between the load of unfolded proteins and the processing capacity in endoplasmic reticulum leads to the accumulation of unfolded or misfolded proteins and endoplasmic reticulum stress, which is a hallmark of a number of storage diseases, including neurodegenerative diseases, a number of metabolic diseases, and cancer. Moreover, its contribution as a novel mechanistic paradigm in genetic skeletal diseases associated with abnormalities of the growth plates and dwarfism is considered...
August 15, 2016: Cell Stress & Chaperones
Xiaoyu Niu, Hao Chen, Jing Yang, Xianglong Yu, Jinfeng Ti, Aihua Wang, Youxiang Diao
The newly emerged disease, duck beak atrophy and dwarfism syndrome (BADS), is caused by novel goose parovirus (N-GPV). Although N-GPV infection has severe consequences, few methods for detecting this virus have been developed. Therefore, the availability of rapid and reliable molecular diagnostic methods would aid future studies of this novel virus. Clinical specimens from 138 suspected cases of N-GPV infection and 120 cloacal swabs from breeding ducks were used in this study. The targeted sequence of N-GPV cloned into the pMD18-T vector was used to generate the N-GPV DNA standard curve...
November 2016: Journal of Virological Methods
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