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https://www.readbyqxmd.com/read/28334989/impaired-fetal-muscle-development-and-jak-stat-activation-mark-disease-onset-and-progression-in-a-mouse-model-for-merosin-deficient-congenital-muscular-dystrophy
#1
Andreia M Nunes, Ryan D Wuebbles, Apurva Sarathy, Tatiana M Fontelonga, Marianne Deries, Dean J Burkin, Sólveig Thorsteinsdóttir
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness is evident from birth. Here we use the dyW mouse model for human MDC1A to trace the onset of the disease during development in utero. We find that myotomal and primary myogenesis proceed normally in homozygous dyW-/-embryos. Fetal dyW-/-muscles display the same number of myofibers as wildtype muscles, but by E18.5 dyW-/-muscles are significantly smaller and muscle size is not recovered post-natally...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334750/ctc1-mediated-c-strand-fill-in-is-an-essential-step-in-telomere-length-maintenance
#2
Xuyang Feng, Shih-Jui Hsu, Christopher Kasbek, Mary Chaiken, Carolyn M Price
To prevent progressive telomere shortening as a result of conventional DNA replication, new telomeric DNA must be added onto the chromosome end. The de novo DNA synthesis involves elongation of the G-rich strand of the telomere by telomerase. In human cells, the CST complex (CTC1-STN1-TEN1) also functions in telomere replication. CST first aids in duplication of the telomeric dsDNA. Then after telomerase has extended the G-rich strand, CST facilitates fill-in synthesis of the complementary C-strand. Here, we analyze telomere structure after disruption of human CTC1 and demonstrate that functional CST is essential for telomere length maintenance due to its role in mediating C-strand fill-in...
February 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334461/profile-of-children-diagnosed-with-a-fetal-alcohol-spectrum-disorder-a-retrospective-chart-review
#3
Natasha Reid, Doug Shelton, Judith Warner, Frances O'Callaghan, Sharon Dawe
INTRODUCTION AND AIMS: Fetal alcohol spectrum disorder (FASD) is a significant public health concern, and growing recognition in Australia led to the establishment of a specialist service for young children. The aim of the current study was to report on the diagnostic profile of a group of children who attended the service, to document the extent to which there were comorbid diagnoses and to provide information on the neurocognitive functioning of the children. DESIGN AND METHODS: This study was a retrospective chart review conducted by the diagnostic service...
March 23, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28334043/cc-223-blocks-mtorc1-c2-activation-and-inhibits-human-hepatocellular-carcinoma-cells-in-vitro-and-in-vivo
#4
Zichen Xie, Jiqin Wang, Mei Liu, Deshan Chen, Chao Qiu, Keyu Sun
Hepatocellular carcinoma (HCC) is a leading cause of cancer-related human mortalities. Over-activation of mammalian target of rapamycin (mTOR) is important for HCC tumorigenesis and progression. The current study assessed the potential anti-HCC activity by a novel mTOR kinase inhibitor, CC-223. We demonstrate that CC-223, at nM concentrations, induced profound cytotoxic and anti-proliferative activities against established HCC cell lines (HepG2, KYN-2 and Huh-7) and primary human HCC cells. Meanwhile, CC-223 activated caspase-3/-9 and apoptosis in the above HCC cells...
2017: PloS One
https://www.readbyqxmd.com/read/28332618/the-chemokine-receptor-cxcr4-promotes-granuloma-formation-by-sustaining-a-mycobacteria-induced-angiogenesis-programme
#5
Vincenzo Torraca, Claudia Tulotta, B Ewa Snaar-Jagalska, Annemarie H Meijer
CXC chemokine receptor 4 plays a critical role in chemotaxis and leukocyte differentiation. Furthermore, there is increasing evidence that links this receptor to angiogenesis. Using the well-established zebrafish-Mycobacterium marinum model for tuberculosis, angiogenesis was recently found to be important for the development of cellular aggregates called granulomas that contain the mycobacteria and are the hallmark of tuberculosis disease. Here, we found that initiation of the granuloma-associated proangiogenic programme requires CXCR4 signalling...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28332357/rare-frequency-of-mutations-in-pituitary-transcription-factor-genes-in-combined-pituitary-hormone-or-isolated-growth-hormone-deficiencies-in-korea
#6
Jin Ho Choi, Chang Woo Jung, Eungu Kang, Yoon Myung Kim, Sun Hee Heo, Beom Hee Lee, Gu Hwan Kim, Han Wook Yoo
PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD)...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28332306/impact-of-iatrogenic-iron-overload-on-the-course-of-hepatitis-c-in-dialysis-population-a-plea-for-caution
#7
Guy Rostoker, Nosratola D Vaziri
About 2.5% of the world population, corresponding to about 177 million individuals, are infected by hepatitis C virus (HCV), a small, single-stranded RNA virus. The prevalence of HCV infection among dialysis patients in Japan, Europe, and North America during the 2012 to 2015 period was found to be 8.7% in the DOPPS study. Nosocomial HCV spread in hemodialysis facilities still occurs. Increased hepatic tissue iron has been shown to play a deleterious role in the course of hepatitis C, favor development of fibrosis and cirrhosis and possibly increase the risk of liver cancer in the general population...
March 23, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28331865/growth-hormone-utilization-review-in-a-pediatric-primary-care-setting
#8
Fatemeh Sayarifard, Fereshteh Bakhshi Imcheh, Shirinsadat Badri, Toktam Faghihi, Mostafa Qorbani, Mania Radfar
OBJECTIVE: One of the main problems facing public health providers and administrators in many countries is ensuring the rational use of high-cost drugs. In this regard, on-going process of medication use evaluation can be considered as a useful tool. In this study, we evaluated certain usage aspects of a highly-cost medication, that is, recombinant growth hormone (GH). METHODS: This cross-sectional study conducted from August 2012 to August 2014. Children receiving GH ± gonadotropin releasing hormone (GnRH) analogs were included in the study...
January 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28331097/loss-of-the-human-cytomegalovirus-us16-protein-abrogates-virus-entry-into-endothelial-and-epithelial-cells-by-reducing-the-virion-content-of-the-pentamer
#9
Anna Luganini, Noemi Cavaletto, Stefania Raimondo, Stefano Geuna, Giorgio Gribaudo
The Human Cytomegalovirus (HCMV) US12 gene family encodes a group of predicted seven-transmembrane proteins whose functions have yet to be established. While inactivation of individual US12 members in laboratory strains of HCMV does not affect viral replication in fibroblasts, disruption of the US16 gene in the low-passage TR strain prevents viral growth in endothelial and epithelial cells. In these cells, the US16-null viruses fail to express IE, E, and L viral proteins due to a defect which occurs prior to IE gene expression...
March 22, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28330997/igfbp3-modulates-lung-tumorigenesis-and-cell-growth-through-igf1-signaling
#10
Yong A Wang, Yunguang Sun, Joshua D Palmer, Charalambos Solomides, Li-Ching Huang, Yu Shyr, Adam P Dicker, Bo Lu
Insulin-like growth factor binding protein 3 (IGFBP3) modulates cell growth through IGF-dependent and -independent mechanisms. Reports suggest that the serum levels of IGFBP3 are associated with various cancers and that IGFBP3 expression is significantly decreased in cisplatin (CDDP)-resistant lung cancer cells. Based on these findings, we investigated whether Igfbp3 deficiency accelerates mouse lung tumorigenesis and if expression of IGFBP3 enhances CDDP response by focusing on the IGF1 signaling cascade. To this end, an Igfbp3-null mouse model was generated in combination with KrasG12D to compare the tumor burden...
March 22, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28330939/chlamydia-preserves-the-mitochondrial-network-necessary-for-replication-via-microrna-dependent-inhibition-of-fission
#11
Suvagata Roy Chowdhury, Anastasija Reimer, Malvika Sharan, Vera Kozjak-Pavlovic, Ana Eulalio, Bhupesh K Prusty, Martin Fraunholz, Karthika Karunakaran, Thomas Rudel
Obligate intracellular bacteria such as Chlamydia trachomatis depend on metabolites of the host cell and thus protect their sole replication niche by interfering with the host cells' stress response. Here, we investigated the involvement of host microRNAs (miRNAs) in maintaining the viability of C. trachomatis-infected primary human cells. We identified miR-30c-5p as a prominently up-regulated miRNA required for the stable down-regulation of p53, a major suppressor of metabolite supply in C. trachomatis-infected cells...
March 22, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28330789/schiff-bases-of-putrescine-with-methylglyoxal-protect-from-cellular-damage-caused-by-accumulation-of-methylglyoxal-and-reactive-oxygen-species-in-dictyostelium-discoideum
#12
Seong-Jun Park, Min-Kyu Kwak, Sa-Ouk Kang
Polyamines protect protein glycation in cells against the advanced glycation end product precursor methylglyoxal, which is inevitably produced during glycolysis, and the enzymes that detoxify this α-ketoaldehyde have been widely studied. Nonetheless, nonenzymatic methylglyoxal-scavenging molecules have not been sufficiently studied either in vitro or in vivo. Here, we hypothesized reciprocal regulation between polyamines and methylglyoxal modeled in Dictyostelium grown in a high-glucose medium. We based our hypothesis on the reaction between putrescine and methylglyoxal in putrescine-deficient (odc(-)) or putrescine-overexpressing (odc(oe)) cells...
March 18, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28330562/zinc-biofortification-improves-phytochemicals-and-amino-acidic-profile-in-brassica-oleracea-cv-bronco
#13
Yurena Barrameda-Medina, Begoña Blasco, Marco Lentini, Sergio Esposito, Nieves Baenas, Diego A Moreno, Juan M Ruiz
Zn deficiency is currently listed as a major risk factor for human health. Recently, a complimentary solution to mineral malnutrition termed 'biofortification' has been proposed. The aim of this study was to investigate the possible effects of a Zn-biofortification program on Zn levels, amino acidic profile and the phytochemicals content in an edible leafy vegetable, such as Brassica oleracea cv. Bronco. Our results indicate that supplementation of 80-100μM Zn is optimal for maintaining the normal growth of plants and to promote the major Zn concentration in the edible part of B...
May 2017: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/28329690/tissue-myeloid-progenitors-differentiate-into-pericytes-through-tgf-%C3%AE-signaling-in-developing-skin-vasculature
#14
Tomoko Yamazaki, Ani Nalbandian, Yutaka Uchida, Wenling Li, Thomas D Arnold, Yoshiaki Kubota, Seiji Yamamoto, Masatsugu Ema, Yoh-Suke Mukouyama
Mural cells (pericytes and vascular smooth muscle cells) are essential for the regulation of vascular networks and maintenance of vascular integrity, but their origins are diverse in different tissues and not known in the organs that arise from the ectoderm, such as skin. Here, we show that tissue-localized myeloid progenitors contribute to pericyte development in embryonic skin vasculature. A series of in vivo fate-mapping experiments indicates that tissue myeloid progenitors differentiate into pericytes...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#15
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326739/a-case-of-pituitary-stalk-interruption-syndrome-with-intermittent-seizures-as-the-first-presentation
#16
(no author information available yet)
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99...
December 22, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28326294/the-eukaryote-like-serine-threonine-kinase-stk-regulates-the-growth-and-metabolism-of-zoonotic-streptococcus-suis
#17
Chunyan Zhang, Wen Sun, Meifang Tan, Mengmeng Dong, Wanquan Liu, Ting Gao, Lu Li, Zhuofei Xu, Rui Zhou
Like eukaryotes, bacteria express one or more serine/threonine kinases (STKs) that initiate diverse signaling networks. The STK from Streptococcus suis is encoded by a single-copy stk gene, which is crucial in stress response and virulence. To further understand the regulatory mechanism of STK in S. suis, a stk deletion strain (Δstk) and its complementary strain (CΔstk) were constructed to systematically decode STK characteristics by applying whole transcriptome RNA sequencing (RNA-Seq) and phosphoproteomic analysis...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28326087/arabidopsis-nac-transcription-factor-jungbrunnen1-exerts-conserved-control-over-gibberellin-and-brassinosteroid-metabolism-and-signaling-genes-in-tomato
#18
Sara Shahnejat-Bushehri, Annapurna D Allu, Nikolay Mehterov, Venkatesh P Thirumalaikumar, Saleh Alseekh, Alisdair R Fernie, Bernd Mueller-Roeber, Salma Balazadeh
The Arabidopsis thaliana NAC transcription factor JUNGBRUNNEN1 (AtJUB1) regulates growth by directly repressing GA3ox1 and DWF4, two key genes involved in gibberellin (GA) and brassinosteroid (BR) biosynthesis, respectively, leading to GA and BR deficiency phenotypes. AtJUB1 also reduces the expression of PIF4, a bHLH transcription factor that positively controls cell elongation, while it stimulates the expression of DELLA genes, which are important repressors of growth. Here, we extend our previous findings by demonstrating that AtJUB1 induces similar GA and BR deficiency phenotypes and changes in gene expression when overexpressed in tomato (Solanum lycopersicum)...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28325825/very-long-term-sequelae-of-craniopharyngioma
#19
Mark Wijnen, Marry M van den Heuvel-Eibrink, Joseph A M J L Janssen, Coriene E Catsman-Berrevoets, Erna M C Michiels, Marie-Lise C van Veelen-Vincent, Alof H G Dallenga, Jan H van den Berge, Carolien M van Rij, A J Van der Lely, Sebastian J C M M Neggers
OBJECTIVE: Studies investigating long-term health conditions in patients with craniopharyngioma are limited by short follow-up durations and do generally not compare long-term health effects according to initial craniopharyngioma treatment approach. In addition, studies comparing long-term health conditions between patients with childhood- and adult-onset craniopharyngioma report conflicting results. The objective of this study was to analyse a full spectrum of long-term health effects in patients with craniopharyngioma according to initial treatment approach and age group at craniopharyngioma presentation...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28324115/regenerative-responses-and-axon-pathfinding-of-retinal-ganglion-cells-in-chronically-injured-mice
#20
Benjamin J Yungher, Márcio Ribeiro, Kevin K Park
Purpose: Enhanced regeneration of retinal ganglion cell (RGC) axons can be achieved by modification of numerous neuronal-intrinsic factors. However, axon growth initiation and the pathfinding behavior of these axons after traumatic injury remain poorly understood outside of acute injury paradigms, despite the clinical relevance of more chronic settings. We therefore examined RGC axon regeneration following therapeutic delivery that is postponed until 2 months after optic nerve crush injury...
March 1, 2017: Investigative Ophthalmology & Visual Science
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